559268
Z7XD6PQF
1
apa
50
date
desc
year
1
1891
https://cias.uc.pt/wp-content/plugins/zotpress/
%7B%22status%22%3A%22success%22%2C%22updateneeded%22%3Afalse%2C%22instance%22%3Afalse%2C%22meta%22%3A%7B%22request_last%22%3A150%2C%22request_next%22%3A50%2C%22used_cache%22%3Atrue%7D%2C%22data%22%3A%5B%7B%22key%22%3A%22FDAUFFBB%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Oliveira%20et%20al.%22%2C%22parsedDate%22%3A%222024-05-06%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EOliveira%2C%20A.%20L.%2C%20Sousa%2C%20T.%2C%20%26amp%3B%20Alvarez%2C%20M.%20%282024%29.%20Longevidade%20saud%26%23xE1%3Bvel%20e%20equil%26%23xED%3Bbrios%20din%26%23xE2%3Bmicos%20do%20bem-estar%2C%20da%20dieta%20e%20da%20atividade%20f%26%23xED%3Bsica%3A%20Publica%26%23xE7%3B%26%23xE3%3Bo%20Antecipada.%20%3Ci%3ERevista%20Portuguesa%20de%20Investiga%26%23xE7%3B%26%23xE3%3Bo%20Comportamental%20e%20Social%3C%5C%2Fi%3E%2C%20%3Ci%3E10%3C%5C%2Fi%3E%281%29%2C%201%26%23x2013%3B20.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.31211%5C%2Frpics.2024.10.1.315%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.31211%5C%2Frpics.2024.10.1.315%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Longevidade%20saud%5Cu00e1vel%20e%20equil%5Cu00edbrios%20din%5Cu00e2micos%20do%20bem-estar%2C%20da%20dieta%20e%20da%20atividade%20f%5Cu00edsica%3A%20Publica%5Cu00e7%5Cu00e3o%20Antecipada%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Albertina%20Lima%22%2C%22lastName%22%3A%22Oliveira%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Tiago%22%2C%22lastName%22%3A%22Sousa%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Manuela%22%2C%22lastName%22%3A%22Alvarez%22%7D%5D%2C%22abstractNote%22%3A%22Background%3A%20Healthy%20longevity%20originates%20from%20the%20dynamic%20interaction%20between%20environmental%2C%20biological%2C%20and%20psychosocial%20factors%20such%20as%20health%20and%20subjective%20well-being.%20Objective%3A%20To%20analyze%20how%20subjective%20well-being%2C%20subjective%20health%2C%20physical%20activity%2C%20and%20the%20Mediterranean%20diet%20relate%20to%20aging%20biomarkers%20and%20the%20number%20of%20prescribed%20medications%20and%20how%20they%20vary%20according%20to%20groups%20differentiated%20by%20age%2C%20sex%2C%20and%20other%20sociodemographic%20variables.%20Method%3A%20A%20non-experimental%20cross-sectional%20methodology%20was%20used%20involving%20290%20non-institutionalized%20people%20aged%2061%20to%2098%20years%20living%20in%20the%20Coimbra%20Region.%20The%20biomarkers%20were%20collected%20from%20clinical%20analysis%20reports%2C%20and%20the%20remaining%20demographic%2C%20psychosocial%2C%20and%20lifestyle%20data%20were%20collected%20with%20questionnaires.%20Results%3A%20It%20was%20found%20that%20subjective%20well-being%20presents%20invariance%20as%20a%20function%20of%20chronological%20age%20and%20marital%20status%20but%20not%20gender.%20The%20perception%20of%20health%20emerged%20as%20a%20differentiating%20factor%20for%20life%20satisfaction%2C%20negative%20affect%2C%20depressive%20symptoms%2C%20and%20perception%20of%20social%20support%2C%20as%20well%20as%20the%20alkaline%20phosphatase%2C%20triglycerides%2C%20and%20HDL%20biomarkers%20and%20the%20number%20of%20medications.%20Physical%20activity%20differentiated%20depressive%20symptoms%2C%20the%20social%20network%2C%20the%20dietary%20pattern%2C%20alkaline%20phosphatase%2C%20and%20medications.%20Conclusions%3A%20The%20stability%20of%20subjective%20well-being%20throughout%20advanced%20adulthood%20is%20highlighted%2C%20and%20it%20is%20observed%20that%20most%20participants%20up%20to%2079%20years%20of%20age%20consider%20themselves%20in%20good%20health.%20Actions%20that%20promote%20positive%20affect%2C%20social%20networking%2C%20and%20the%20practice%20of%20moderate%20to%20intense%20physical%20activity%20are%20recommended%2C%20as%20they%20are%20associated%20with%20physical%20and%20subjective%20health%20and%20subjective%20well-being.%22%2C%22date%22%3A%222024-05-06%22%2C%22language%22%3A%22pt%22%2C%22DOI%22%3A%2210.31211%5C%2Frpics.2024.10.1.315%22%2C%22ISSN%22%3A%222183-4938%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Frpics.ismt.pt%5C%2Findex.php%5C%2FISMT%5C%2Farticle%5C%2Fview%5C%2F315%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222024-05-08T09%3A21%3A43Z%22%7D%7D%2C%7B%22key%22%3A%22VPK9XPAF%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Queiroz%20et%20al.%22%2C%22parsedDate%22%3A%222024-03-19%22%2C%22numChildren%22%3A2%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EQueiroz%2C%20G.%2C%20Monteiro%2C%20C.%2C%20Manco%2C%20L.%2C%20Relvas%2C%20L.%2C%20Trovoada%2C%20M.%20de%20J.%2C%20Leite%2C%20A.%2C%20%26amp%3B%20Bento%2C%20C.%20%282024%29.%20Sickle%20cell%20trait%20in%20S%26%23xE3%3Bo%20Tom%26%23xE9%3B%20e%20Pr%26%23xED%3Bncipe%3A%20a%20population-based%20prevalence%20study%20in%20women%20of%20reproductive%20age.%20%3Ci%3EBMC%20Public%20Health%3C%5C%2Fi%3E%2C%20%3Ci%3E24%3C%5C%2Fi%3E%281%29%2C%20850.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1186%5C%2Fs12889-024-17761-1%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1186%5C%2Fs12889-024-17761-1%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Sickle%20cell%20trait%20in%20S%5Cu00e3o%20Tom%5Cu00e9%20e%20Pr%5Cu00edncipe%3A%20a%20population-based%20prevalence%20study%20in%20women%20of%20reproductive%20age%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Guilherme%22%2C%22lastName%22%3A%22Queiroz%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Celdidy%22%2C%22lastName%22%3A%22Monteiro%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lic%5Cu00ednio%22%2C%22lastName%22%3A%22Manco%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lu%5Cu00eds%22%2C%22lastName%22%3A%22Relvas%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Maria%20de%20Jesus%22%2C%22lastName%22%3A%22Trovoada%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Andreia%22%2C%22lastName%22%3A%22Leite%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Celeste%22%2C%22lastName%22%3A%22Bento%22%7D%5D%2C%22abstractNote%22%3A%22Sickle%20Cell%20Disorder%20is%20Africa%5Cu2019s%20most%20prevalent%20genetic%20disease.%20Yet%2C%20it%20remains%20a%20neglected%20condition%2C%20with%20high%20mortality%20under-five%2C%20and%20a%20lack%20of%20population-based%20studies%20in%20the%20region.%20This%20is%20the%20first%20of%20its%20kind%20in%20S%5Cu00e3o%20Tom%5Cu00e9%20e%20Pr%5Cu00edncipe%2C%20aiming%20to%20estimate%20the%20prevalence%20of%20sickle%20cell%20trait%20and%20other%20haemoglobin%20variants%20in%20women%20of%20reproductive%20age%20and%20its%20associated%20factors.%22%2C%22date%22%3A%222024-03-19%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%2210.1186%5C%2Fs12889-024-17761-1%22%2C%22ISSN%22%3A%221471-2458%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1186%5C%2Fs12889-024-17761-1%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222024-03-25T10%3A08%3A02Z%22%7D%7D%2C%7B%22key%22%3A%22RWZJFYN6%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Dias%20and%20Manco%22%2C%22parsedDate%22%3A%222024-03-01%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EDias%2C%20H.%20C.%2C%20%26amp%3B%20Manco%2C%20L.%20%282024%29.%20Predicting%20age%20from%20blood%20by%20droplet%20digital%20PCR%20using%20a%20set%20of%20three%20DNA%20methylation%20markers.%20%3Ci%3EForensic%20Science%20International%3C%5C%2Fi%3E%2C%20%3Ci%3E356%3C%5C%2Fi%3E%2C%20111950.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1016%5C%2Fj.forsciint.2024.111950%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1016%5C%2Fj.forsciint.2024.111950%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Predicting%20age%20from%20blood%20by%20droplet%20digital%20PCR%20using%20a%20set%20of%20three%20DNA%20methylation%20markers%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Helena%20Correia%22%2C%22lastName%22%3A%22Dias%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lic%5Cu00ednio%22%2C%22lastName%22%3A%22Manco%22%7D%5D%2C%22abstractNote%22%3A%22Evaluation%20of%20DNA%20methylation%20%28DNAm%29%20patterns%20is%20a%20promising%20tool%20for%20age%20estimation.%20The%20duplex%20droplet%20digital%20PCR%20%28ddPCR%29%20method%20has%20been%20recently%20investigated%20for%20DNAm%20evaluation%2C%20revealing%20to%20be%20a%20potential%20methodology%20for%20DNAm%20evaluation%20and%20molecular%20age%20estimation.%20In%20this%20study%2C%20we%20evaluated%20DNAm%20levels%20of%20CpGs%20located%20at%20the%20three%20age-associated%20genes%20ELOVL2%2C%20FHL2%20and%20PDE4C%20using%20ddPCR%20to%20develop%20an%20age%20prediction%20model.%20Blood-derived%20DNA%20samples%20from%2058%20healthy%20individuals%20%2842%20women%20and%2016%20men%3B%20aged%201%5Cu201393%20years%20old%29%20were%20submitted%20to%20bisulfite%20conversion%20followed%20by%20ddPCR%20using%20dual-labeled%20probes%20targeting%20methylated%20and%20unmethylated%20DNA%20sequences.%20Simple%20linear%20regression%20statistics%20revealed%20a%20strong%20correlation%20between%20DNAm%20levels%20and%20chronological%20age%20for%20FHL2%20%28R%20%3D%200.948%3B%20P%5Cu00a0%3D%5Cu00a01.472%20%5Cu00d7%2010%5Cu221229%29%20and%20PDE4C%20%28R%20%3D%200.819%3B%20P%5Cu00a0%3D%5Cu00a03.917%20%5Cu00d7%2010%5Cu221215%29%2C%20addressing%20only%20one%20CpG%20for%20each%20gene.%20For%20the%20ELOVL2%20gene%2C%20evaluating%20five%20CpG%20sites%20in%20simultaneous%2C%20revealed%20a%20strong%20age%20correlation%20%28R%20%3D%200.887%3B%20P%5Cu00a0%3D%5Cu00a02.099%20%5Cu00d7%2010%5Cu221220%29%20in%20a%20simple%20linear%20regression%20statistics%20and%20very%20strong%20age%20correlation%20%28R%20%3D%200.926%3B%20P%5Cu00a0%3D%5Cu00a02.202%20%5Cu00d7%2010%5Cu221225%29%20when%20using%20quadratic%20regression%20statistics.%20The%20multivariable%20regression%20analysis%2C%20using%20methylation%20information%20captured%20on%20ELOVL2%20%28squared%29%2C%20FHL2%20and%20PDE4C%20genes%2C%20revealed%20a%20very%20strong%20age%20correlation%20%28R%20%3D%200.970%3B%20P%5Cu00a0%3D%5Cu00a05.356%20%5Cu00d710%5Cu221233%29%2C%20explaining%2093.7%20%25%20of%20age%20variance%2C%20displaying%20a%20mean%20absolute%20deviation%20%28MAD%29%20between%20chronological%20and%20predicted%20age%20of%204.657%20years%20%28RMSE%20%3D%206.044%29.%20We%20postulate%20that%20the%20ddPCR%20method%20should%20be%20further%20investigated%20for%20DNAm-based%20age%20prediction%2C%20because%20it%20is%20a%20relatively%20simple%20and%20an%20accurate%20method%20that%20can%20be%20routinely%20used%20in%20forensic%20laboratories%20for%20testing%20a%20few%20numbers%20of%20markers.%22%2C%22date%22%3A%222024-03-01%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%2210.1016%5C%2Fj.forsciint.2024.111950%22%2C%22ISSN%22%3A%220379-0738%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.sciencedirect.com%5C%2Fscience%5C%2Farticle%5C%2Fpii%5C%2FS0379073824000318%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222024-02-01T13%3A03%3A18Z%22%7D%7D%2C%7B%22key%22%3A%22TUB5YTE8%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Delamare%20et%20al.%22%2C%22parsedDate%22%3A%222023-11-01%22%2C%22numChildren%22%3A2%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EDelamare%2C%20M.%2C%20Le%20Roy%2C%20A.%2C%20Pacault%2C%20M.%2C%20Schmitt%2C%20L.%2C%20Garrec%2C%20C.%2C%20Maaziz%2C%20N.%2C%20Myllykoski%2C%20M.%2C%20Rimbert%2C%20A.%2C%20Karaghiannis%2C%20V.%2C%20Aral%2C%20B.%2C%20Catherwood%2C%20M.%2C%20Airaud%2C%20F.%2C%20Mansour-Hendili%2C%20L.%2C%20Hoogewijs%2C%20D.%2C%20Peroni%2C%20E.%2C%20Idriss%2C%20S.%2C%20Lesieur%2C%20V.%2C%20Caillaud%2C%20A.%2C%20Si-Tayeb%2C%20K.%2C%20%26%23x2026%3B%20ECYT-3%20consortium.%20%282023%29.%20Characterization%20of%20genetic%20variants%20in%20the%20EGLN1%5C%2FPHD2%20gene%20identified%20in%20a%20European%20collection%20of%20patients%20with%20erythrocytosis.%20%3Ci%3EHaematologica%3C%5C%2Fi%3E%2C%20%3Ci%3E108%3C%5C%2Fi%3E%2811%29%2C%203068%26%23x2013%3B3085.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.3324%5C%2Fhaematol.2023.282913%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.3324%5C%2Fhaematol.2023.282913%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Characterization%20of%20genetic%20variants%20in%20the%20EGLN1%5C%2FPHD2%20gene%20identified%20in%20a%20European%20collection%20of%20patients%20with%20erythrocytosis%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Marine%22%2C%22lastName%22%3A%22Delamare%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Amandine%22%2C%22lastName%22%3A%22Le%20Roy%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Mathilde%22%2C%22lastName%22%3A%22Pacault%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lo%5Cu00efc%22%2C%22lastName%22%3A%22Schmitt%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C%5Cu00e9line%22%2C%22lastName%22%3A%22Garrec%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Nada%22%2C%22lastName%22%3A%22Maaziz%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Matti%22%2C%22lastName%22%3A%22Myllykoski%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Antoine%22%2C%22lastName%22%3A%22Rimbert%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Val%5Cu00e9na%22%2C%22lastName%22%3A%22Karaghiannis%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Bernard%22%2C%22lastName%22%3A%22Aral%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Mark%22%2C%22lastName%22%3A%22Catherwood%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Fabrice%22%2C%22lastName%22%3A%22Airaud%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lamisse%22%2C%22lastName%22%3A%22Mansour-Hendili%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22David%22%2C%22lastName%22%3A%22Hoogewijs%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Edoardo%22%2C%22lastName%22%3A%22Peroni%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Salam%22%2C%22lastName%22%3A%22Idriss%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Valentine%22%2C%22lastName%22%3A%22Lesieur%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Amandine%22%2C%22lastName%22%3A%22Caillaud%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Karim%22%2C%22lastName%22%3A%22Si-Tayeb%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Caroline%22%2C%22lastName%22%3A%22Chariau%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Anne%22%2C%22lastName%22%3A%22Gaignerie%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Minke%22%2C%22lastName%22%3A%22Rab%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Torsten%22%2C%22lastName%22%3A%22Haferlach%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Manja%22%2C%22lastName%22%3A%22Meggendorfer%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22St%5Cu00e9phane%22%2C%22lastName%22%3A%22B%5Cu00e9zieau%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Andrea%22%2C%22lastName%22%3A%22Benetti%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Nicole%22%2C%22lastName%22%3A%22Casadevall%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Pierre%22%2C%22lastName%22%3A%22Hirsch%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Christian%22%2C%22lastName%22%3A%22Rose%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Mathieu%22%2C%22lastName%22%3A%22Wemeau%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Fr%5Cu00e9d%5Cu00e9ric%22%2C%22lastName%22%3A%22Galacteros%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Bruno%22%2C%22lastName%22%3A%22Cassinat%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Beatriz%22%2C%22lastName%22%3A%22Bellosillo%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Celeste%22%2C%22lastName%22%3A%22Bento%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Richard%22%2C%22lastName%22%3A%22Van%20Wijk%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Petro%20E.%22%2C%22lastName%22%3A%22Petrides%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Maria%20Luigia%22%2C%22lastName%22%3A%22Randi%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Mary%20Frances%22%2C%22lastName%22%3A%22McMullin%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Peppi%22%2C%22lastName%22%3A%22Koivunen%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Fran%5Cu00e7ois%22%2C%22lastName%22%3A%22Girodon%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Betty%22%2C%22lastName%22%3A%22Gardie%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22name%22%3A%22ECYT-3%20consortium%22%7D%5D%2C%22abstractNote%22%3A%22Hereditary%20erythrocytosis%20is%20a%20rare%20hematologic%20disorder%20characterized%20by%20an%20excess%20of%20red%20blood%20cell%20production.%20Here%20we%20describe%20a%20European%20collaborative%20study%20involving%20a%20collection%20of%202%2C160%20patients%20with%20erythrocytosis%20sequenced%20in%20ten%20different%20laboratories.%20We%20focused%20our%20study%20on%20the%20EGLN1%20gene%20and%20identified%2039%20germline%20missense%20variants%20including%20one%20gene%20deletion%20in%2047%20probands.%20EGLN1%20encodes%20the%20PHD2%20prolyl%204-hydroxylase%2C%20a%20major%20inhibitor%20of%20hypoxia-inducible%20factor.%20We%20performed%20a%20comprehensive%20study%20to%20evaluate%20the%20causal%20role%20of%20the%20identified%20PHD2%20variants%3A%20%28i%29%20in%20silico%20studies%20of%20localization%2C%20conservation%2C%20and%20deleterious%20effects%3B%20%28ii%29%20analysis%20of%20hematologic%20parameters%20of%20carriers%20identified%20in%20the%20UK%20Biobank%3B%20%28iii%29%20functional%20studies%20of%20the%20protein%20activity%20and%20stability%3B%20and%20%28iv%29%20a%20comprehensive%20study%20of%20PHD2%20splicing.%20Altogether%2C%20these%20studies%20allowed%20the%20classification%20of%2016%20pathogenic%20or%20likely%20pathogenic%20mutants%20in%20a%20total%20of%2048%20patients%20and%20relatives.%20The%20in%20silico%20studies%20extended%20to%20the%20variants%20described%20in%20the%20literature%20showed%20that%20a%20minority%20of%20PHD2%20variants%20can%20be%20classified%20as%20pathogenic%20%2836%5C%2F96%29%2C%20without%20any%20differences%20from%20the%20variants%20of%20unknown%20significance%20regarding%20the%20severity%20of%20the%20developed%20disease%20%28hematologic%20parameters%20and%20complications%29.%20Here%2C%20we%20demonstrated%20the%20great%20value%20of%20federating%20laboratories%20working%20on%20such%20rare%20disorders%20in%20order%20to%20implement%20the%20criteria%20required%20for%20genetic%20classification%2C%20a%20strategy%20that%20should%20be%20extended%20to%20all%20hereditary%20hematologic%20diseases.%22%2C%22date%22%3A%222023-11-01%22%2C%22language%22%3A%22eng%22%2C%22DOI%22%3A%2210.3324%5C%2Fhaematol.2023.282913%22%2C%22ISSN%22%3A%221592-8721%22%2C%22url%22%3A%22%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222023-12-11T10%3A21%3A14Z%22%7D%7D%2C%7B%22key%22%3A%224AF2C2CT%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Manco%20et%20al.%22%2C%22parsedDate%22%3A%222023-06-16%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EManco%2C%20L.%2C%20Albuquerque%2C%20D.%2C%20Rodrigues%2C%20D.%2C%20Machado-Rodrigues%2C%20A.%20M.%2C%20%26amp%3B%20Padez%2C%20C.%20%282023%29.%20Protective%20Association%20of%20APOC1%5C%2Frs4420638%20with%20Risk%20of%20Obesity%3A%20A%20case-control%20Study%20in%20Portuguese%20Children.%20%3Ci%3EBiochemical%20Genetics%3C%5C%2Fi%3E.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1007%5C%2Fs10528-023-10427-4%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1007%5C%2Fs10528-023-10427-4%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Protective%20Association%20of%20APOC1%5C%2Frs4420638%20with%20Risk%20of%20Obesity%3A%20A%20case-control%20Study%20in%20Portuguese%20Children%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lic%5Cu00ednio%22%2C%22lastName%22%3A%22Manco%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22David%22%2C%22lastName%22%3A%22Albuquerque%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Daniela%22%2C%22lastName%22%3A%22Rodrigues%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Aristides%20M.%22%2C%22lastName%22%3A%22Machado-Rodrigues%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Cristina%22%2C%22lastName%22%3A%22Padez%22%7D%5D%2C%22abstractNote%22%3A%22The%20association%20of%20the%20rs4420638%20polymorphism%2C%20near%20the%20APOC1%20gene%2C%20was%20examined%20with%20the%20risk%20of%20obesity%20among%20Portuguese%20children.%20A%20sample%20of%20446%20Portuguese%20individuals%20%28231%20boys%20and%20215%20girls%29%20of%20European%20descent%2C%20aged%203.2%20to%2013.7%20years%20old%20%28mean%20age%3A%207.98%20years%29%2C%20were%20selected%20to%20conduct%20a%20case-control%20study.%20Body%20mass%20index%20%28BMI%29%2C%20BMI%20Z-scores%2C%20and%20waist%20circumference%20were%20calculated.%20Genotyping%20was%20performed%20by%20real%20time%20PCR%20using%20a%20pre-designed%20TaqMan%20probe.%20Logistic%20regression%20and%20the%20nonparametric%20Mann-Whitney%20test%20were%20used%20to%20test%20the%20associations.%20The%20association%20results%20revealed%20a%20significant%20protective%20effect%20from%20the%20minor%20G-allele%20of%20SNP%20rs4420638%20against%20obesity%2C%20with%20an%20odds%20ratio%20%28OR%29%20of%200.619%20%2895%25%20CI%200.421-0.913%3B%20p%5Cu2009%3D%5Cu20090.0155%29%20in%20the%20additive%20model%2C%20and%20OR%20of%200.587%20%2895%25%20CI%200.383-0.9%3B%20p%5Cu2009%3D%5Cu20090.0145%29%20in%20the%20dominant%20model.%20Moreover%2C%20comparing%20genotype%20groups%20%28AA%20vs.%20AG%5Cu2009%2B%5Cu2009GG%29%2C%20significantly%20lower%20values%20%28p%5Cu2009%3C%5Cu20090.05%29%20for%20the%20anthropometric%20traits%20weight%2C%20height%2C%20BMI%2C%20BMI%20Z-score%20and%20waist%20circumference%2C%20were%20observed%20in%20the%20carriers%20of%20allele%20G.%20The%20present%20study%20provides%20further%20evidence%20for%20the%20APOE%5C%2FAPOC1%20candidate-region%20association%20with%20the%20risk%20of%20obesity.%20This%20was%20the%20first%20study%20to%20describe%20the%20protective%20association%20of%20the%20rs4420638%20minor%20G-allele%20against%20obesity%20in%20childhood%20exclusively.%22%2C%22date%22%3A%222023-06-16%22%2C%22language%22%3A%22eng%22%2C%22DOI%22%3A%2210.1007%5C%2Fs10528-023-10427-4%22%2C%22ISSN%22%3A%221573-4927%22%2C%22url%22%3A%22%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22JCHR2C33%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222023-06-22T12%3A24%3A16Z%22%7D%7D%2C%7B%22key%22%3A%22JP9JAPSI%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Videira-Silva%20et%20al.%22%2C%22parsedDate%22%3A%222023-04-03%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EVideira-Silva%2C%20A.%2C%20Manco%2C%20L.%2C%20Sardinha%2C%20L.%20B.%2C%20%26amp%3B%20Fonseca%2C%20H.%20%282023%29.%20Vigorous%20physical%20activity%3A%20A%20potential%20ally%20in%20adolescent%20obesity%20management.%20%3Ci%3EEuropean%20Journal%20of%20Sport%20Science%3C%5C%2Fi%3E%2C%20%3Ci%3E23%3C%5C%2Fi%3E%284%29%2C%20607%26%23x2013%3B616.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1080%5C%2F17461391.2022.2035437%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1080%5C%2F17461391.2022.2035437%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Vigorous%20physical%20activity%3A%20A%20potential%20ally%20in%20adolescent%20obesity%20management%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Antonio%22%2C%22lastName%22%3A%22Videira-Silva%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lic%5Cu00ednio%22%2C%22lastName%22%3A%22Manco%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Luis%20B.%22%2C%22lastName%22%3A%22Sardinha%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Helena%22%2C%22lastName%22%3A%22Fonseca%22%7D%5D%2C%22abstractNote%22%3A%22Individual%20variability%20may%20contribute%20to%20the%20modest%20and%20inconsistent%20results%20reported%20in%20obesity-management%20interventions.%20This%20study%20aimed%20to%20investigate%20the%20impact%20of%20non-modifiable%20as%20well%20as%20modifiable%20factors%20on%20body%20mass%20index%20%28BMI%29%20and%20body%20fat%20variance%20in%20adolescents%20with%20obesity%20followed%20in%20a%20clinical%20obesity-management%20programme%2C%20in%20order%20to%20better%20understand%20individual%20variability.%20Non-modifiable%20factors%20%28i.e.%20socio-economic%20status%2C%20pregnancy%20BMI%2C%20weight%20progression%20across%20pregnancy%2C%20BMI%20at%20time%20of%20delivery%2C%20way%20of%20delivery%2C%20birth%20weight%2C%20breastfeeding%20duration%2C%20age%20at%20overweight%20onset%2C%20overweight%20duration%2C%20and%20FTO%20rs9939609%20polymorphism%29%20and%20modifiable%20factors%20data%20%28i.e.%20self-determination%20level%2C%20self-efficacy%20and%20perception%20of%20importance%20to%20lose%20weight%2C%20energy%20intake%2C%20physical%20activity%2C%20and%20sedentary%20behaviours%29%20from%2063%20adolescents%20%2893.7%25%20Caucasian%2C%2055.6%25%20girls%29%2C%20with%20a%20median%20age%20of%2015.0%20%282.5%29%20years%2C%20and%20a%20median%20BMI%20z-score%20of%202.88%20%280.70%29%2C%20followed%20for%206%20months%20were%20analyzed.%20BMI%20z-score%20variance%20was%20predicted%20by%20vigorous%20physical%20activity%20%28VPA%29%20%28F%281%2C57%29%20%3D%204.55%2C%20p%20%3D%20.039%29%2C%20overweight%20duration%20%28F%281%2C59%29%20%3D%205.61%2C%20p%20%3D%20.022%29%2C%20way%20of%20delivery%20%28F%282%2C58%29%20%3D%206.55%2C%20p%20%3D%20.003%29%20and%20self-determination%20level%20%28F%281%2C59%29%20%3D%204.75%2C%20p%20%3D%20.034%29.%20VPA%20further%20predicted%20body%20fat%20mass%20%28%25%29%20%28F%281%2C57%29%20%3D%209.99%2C%20p%20%3D%20.003%29%20as%20well%20as%20trunk%20fat%20mass%20variance%20%28F%281%2C57%29%20%3D%208.94%2C%20p%20%3D%20.006%29.%20This%20study%20suggests%20that%20although%20both%20non-modifiable%20and%20modifiable%20factors%20influence%20BMI%20and%20body%20fat%20variance%20to%20some%20extent%2C%20in%20adolescents%20with%20obesity%2C%20VPA%20%28modifiable%20factor%29%20stands%20out%20as%20the%20factor%20with%20the%20best%20association%20with%20both%20outcomes.%20VPA%20may%20be%20a%20potential%20ally%20in%20the%20success%20of%20clinical%20obesity%20management%20in%20adolescents%2C%20and%20so%20should%20be%20emphasised%20in%20this%20population.HighlightsThere%20is%20a%20huge%20individual%20variability%20within%20studies%20in%20response%20to%20adolescent%20obesity-management%20interventions.Both%20non-modifiable%20and%20modifiable%20factors%20may%20influence%20body%20mass%20index%20%28BMI%29%20and%20body%20fat%20variance%2C%20influencing%20interventions%5Cu2019%20outcomes.The%20predictive%20value%20of%20both%20non-modifiable%20and%20modifiable%20factors%20largely%20overlaps%2C%20making%20lighter%20the%20burden%20of%20the%20former%20and%20highlighting%20the%20value%20of%20lifestyle%20changes.Among%20modifiable%20factors%2C%20vigorous%20physical%20activity%20standouts%20as%20the%20factor%20with%20the%20best%20%28negative%29%20association%20with%20BMI%20and%20body%20fat%20variance.%22%2C%22date%22%3A%222023-04-03%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%2210.1080%5C%2F17461391.2022.2035437%22%2C%22ISSN%22%3A%221746-1391%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1080%5C%2F17461391.2022.2035437%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222023-05-15T10%3A17%3A21Z%22%7D%7D%2C%7B%22key%22%3A%22ALAX6LIZ%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Manco%20et%20al.%22%2C%22parsedDate%22%3A%222023-04-01%22%2C%22numChildren%22%3A2%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EManco%2C%20L.%2C%20Pereira%2C%20J.%2C%20Fidalgo%2C%20T.%2C%20Cunha%2C%20M.%2C%20Pinto-Gouveia%2C%20J.%2C%20Padez%2C%20C.%2C%20%26amp%3B%20Palmeira%2C%20L.%20%282023%29.%20Next-generation%20sequencing%20of%2012%20obesity%20genes%20in%20a%20Portuguese%20cohort%20of%20patients%20with%20overweight%20and%20obesity.%20%3Ci%3EEuropean%20Journal%20of%20Medical%20Genetics%3C%5C%2Fi%3E%2C%20%3Ci%3E66%3C%5C%2Fi%3E%284%29%2C%20104728.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1016%5C%2Fj.ejmg.2023.104728%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1016%5C%2Fj.ejmg.2023.104728%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Next-generation%20sequencing%20of%2012%20obesity%20genes%20in%20a%20Portuguese%20cohort%20of%20patients%20with%20overweight%20and%20obesity%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lic%5Cu00ednio%22%2C%22lastName%22%3A%22Manco%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Janet%22%2C%22lastName%22%3A%22Pereira%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Teresa%22%2C%22lastName%22%3A%22Fidalgo%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Marina%22%2C%22lastName%22%3A%22Cunha%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jos%5Cu00e9%22%2C%22lastName%22%3A%22Pinto-Gouveia%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Cristina%22%2C%22lastName%22%3A%22Padez%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lara%22%2C%22lastName%22%3A%22Palmeira%22%7D%5D%2C%22abstractNote%22%3A%22We%20examined%2012%20monogenic%20obesity%20genes%20in%2072%20Portuguese%20individuals%20with%20overweight%20and%20obesity%20%28class%201%20and%20class%202%29%2C%20some%20of%20which%20with%20suspected%20genetic%20obesity%2C%20to%20identify%20known%20or%20unknown%20potential%20obesity%20variants.%20Genomic%20DNA%20was%20analyzed%20for%20variants%20in%20genes%20LEP%2C%20LEPR%2C%20MC4R%2C%20POMC%2C%20PCSK1%2C%20BDNF%2C%20NTRK2%2C%20SIM1%2C%20SH2B1%2C%20UCP3%2C%20GCG%20and%20ADCY3%20through%20next%20generation%20sequencing%20%28NGS%29.%20The%20impact%20of%20the%20rare%20variants%20was%20investigated%20in%20the%20ClinVar%20database%20and%20using%20in%20silico%20tools%20for%20prediction%20of%20pathogenicity.%20Four%20potential%20pathogenic%20missense%20variants%20were%20detected%20at%20the%20heterozygous%20state%20in%20five%20individuals%3A%20two%20in%20the%20ADCY3%20gene%2C%20NM_004036.5%3Ac.1153G%5Cu00a0%3E%5Cu00a0A%20%28p.Val385Ile%29%20%28rs756783003%29%20and%20NM_004036.5%3Ac.1222G%5Cu00a0%3E%5Cu00a0A%20%28p.Gly408Arg%29%20%28rs201606553%29%2C%20one%20in%20gene%20SH2B1%2C%20NM_001145795.1%3Ac.127C%5Cu00a0%3E%5Cu00a0A%20%28p.Arg43Ser%29%20%28rs547678855%29%2C%20and%20the%20fourth%20in%20gene%20POMC%20NM_000939.4%3Ac.706C%5Cu00a0%3E%5Cu00a0G%20%28p.Arg236Gly%29%20%28rs28932472%29%2C%20which%20was%20found%20in%20two%20individuals.%20Moreover%2C%20six%20rare%20variants%20near%20splicing%20sites%20were%20also%20identified%2C%20as%20well%20as%20eight%20rare%20synonymous%20variants.%20In%20summary%2C%20some%20potential%20pathogenic%20rare%20missense%20variants%20were%20identified%2C%20two%20of%20them%20in%20ADCY3%20gene%2C%20the%20most%20recently%20identified%20gene%20as%20having%20a%20role%20in%20monogenic%20obesity.%20Further%20analysis%20should%20be%20performed%20to%20confirm%20the%20clinical%20relevance%20of%20these%20variants.%22%2C%22date%22%3A%222023-04-01%22%2C%22language%22%3A%22en%22%2C%22DOI%22%3A%2210.1016%5C%2Fj.ejmg.2023.104728%22%2C%22ISSN%22%3A%221769-7212%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.sciencedirect.com%5C%2Fscience%5C%2Farticle%5C%2Fpii%5C%2FS1769721223000344%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222023-05-15T10%3A16%3A44Z%22%7D%7D%2C%7B%22key%22%3A%224DVCMEDE%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Manco%20et%20al.%22%2C%22parsedDate%22%3A%222023-02-01%22%2C%22numChildren%22%3A2%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EManco%2C%20L.%2C%20Bento%2C%20C.%2C%20Relvas%2C%20L.%2C%20Maia%2C%20T.%2C%20%26amp%3B%20Ribeiro%2C%20M.%20L.%20%282023%29.%20Molecular%20Heterogeneity%20of%20Glucose-6-Phosphate%20Dehydrogenase%20%28G6PD%29%20Deficiency%20in%20the%20Portuguese%20Population.%20%3Ci%3EActa%20Medica%20Portuguesa%3C%5C%2Fi%3E%2C%20%3Ci%3E36%3C%5C%2Fi%3E%282%29%2C%2081%26%23x2013%3B87.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.20344%5C%2Famp.17584%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.20344%5C%2Famp.17584%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Molecular%20Heterogeneity%20of%20Glucose-6-Phosphate%20Dehydrogenase%20%28G6PD%29%20Deficiency%20in%20the%20Portuguese%20Population%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lic%5Cu00ednio%22%2C%22lastName%22%3A%22Manco%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Celeste%22%2C%22lastName%22%3A%22Bento%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lu%5Cu00eds%22%2C%22lastName%22%3A%22Relvas%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Tabita%22%2C%22lastName%22%3A%22Maia%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Maria%20Let%5Cu00edcia%22%2C%22lastName%22%3A%22Ribeiro%22%7D%5D%2C%22abstractNote%22%3A%22INTRODUCTION%3A%20Glucose-6-phosphate%20dehydrogenase%20%28G6PD%29%20deficiency%20is%20the%20most%20common%20enzyme%20defect%20in%20the%20world%2C%20affecting%20more%20than%20500%20million%20people.%20In%20Portugal%2C%20the%20average%20frequency%20of%20G6PD%20deficiency%20in%20males%20was%20estimated%20at%20about%200.5%25%20and%20since%20the%20year%202000%20several%20G6PD-deficient%20alleles%20have%20been%20identified.%20The%20main%20goal%20of%20this%20study%20was%20to%20improve%20the%20knowledge%20on%20the%20molecular%20heterogeneity%20of%20G6PD%20deficiency%20in%20the%20Portuguese%20population.%5CnMATERIAL%20AND%20METHODS%3A%20A%20retrospective%20analysis%20of%20the%20mutational%20profile%20of%20138%20unrelated%20Portuguese%20individuals%20%28101%20males%3B%2037%20females%29%2C%20with%20no%20known%20sub-Saharan%20ancestry%2C%20who%20had%20been%20diagnosed%20with%20G6PD%20deficiency%20between%201994%20and%202020%20at%20the%20Molecular%20Hematology%20Unit%20of%20Centro%20Hospitalar%20e%20Universit%5Cu00e1rio%20de%20Coimbra.%20The%20molecular%20study%20was%20done%20by%20direct%20Sanger%20sequencing%20or%20PCR-RFLP%20analysis.%5CnRESULTS%3A%20Twenty-one%20different%20pathogenic%20mutations%20were%20found.%20Among%20them%2C%2020%20were%20missense%2C%20causing%20the%20amino%20acid%20change%2C%20and%20one%20was%20an%20in-frame%20deletion%20in%20exon%2010.%20The%20three%20most%20frequent%20mutations%20belong%20to%20the%20G6PD%20c.376A%3EG%20African%20background%20haplotype%2C%20namely%20the%20G6PD%20variants%3A%20A-%20%28c.202G%3EA%3B%20p.68Val%3EMet%29%20%2858.6%25%29%2C%20Betica%20%28c.968T%3EC%3B%20p.323Leu%3EPro%29%20%2812.1%25%29%20and%20Santamaria%20%28c.542A%3ET%3B%20p.181Asp%3EVal%29%20%284.3%25%29.%5CnCONCLUSION%3A%20There%20is%20a%20wide%20molecular%20heterogeneity%20of%20G6PD%20deficiency%20in%20the%20Portuguese%20population.%22%2C%22date%22%3A%222023-02-01%22%2C%22language%22%3A%22eng%22%2C%22DOI%22%3A%2210.20344%5C%2Famp.17584%22%2C%22ISSN%22%3A%221646-0758%22%2C%22url%22%3A%22%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222023-05-15T10%3A16%3A01Z%22%7D%7D%2C%7B%22key%22%3A%22AM6CIN57%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Karaghiannis%20et%20al.%22%2C%22parsedDate%22%3A%222023-01-26%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EKaraghiannis%2C%20V.%2C%20Maric%2C%20D.%2C%20Garrec%2C%20C.%2C%20Maaziz%2C%20N.%2C%20Buffet%2C%20A.%2C%20Schmitt%2C%20L.%2C%20Antunes%2C%20V.%2C%20Airaud%2C%20F.%2C%20Aral%2C%20B.%2C%20Roy%2C%20A.%20L.%2C%20Corbineau%2C%20S.%2C%20Mansour-Hendili%2C%20L.%2C%20Lesieur%2C%20V.%2C%20Rimbert%2C%20A.%2C%20Laporte%2C%20F.%2C%20Delamare%2C%20M.%2C%20Rab%2C%20M.%2C%20B%26%23xE9%3Bzieau%2C%20S.%2C%20Cassinat%2C%20B.%2C%20%26%23x2026%3B%20Gardie%2C%20B.%20%282023%29.%20Comprehensive%20in%20silico%20and%20functional%20studies%20for%20classification%20of%20EPAS1%5C%2FHIF2A%20genetic%20variants%20identified%20in%20patients%20with%20erythrocytosis.%20%3Ci%3EHaematologica%3C%5C%2Fi%3E%2C%20%3Ci%3E108%3C%5C%2Fi%3E%286%29%2C%201652%26%23x2013%3B1666.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.3324%5C%2Fhaematol.2022.281698%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.3324%5C%2Fhaematol.2022.281698%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Comprehensive%20in%20silico%20and%20functional%20studies%20for%20classification%20of%20EPAS1%5C%2FHIF2A%20genetic%20variants%20identified%20in%20patients%20with%20erythrocytosis%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Val%5Cu00e9na%22%2C%22lastName%22%3A%22Karaghiannis%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Darko%22%2C%22lastName%22%3A%22Maric%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C%5Cu00e9line%22%2C%22lastName%22%3A%22Garrec%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Nada%22%2C%22lastName%22%3A%22Maaziz%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Alexandre%22%2C%22lastName%22%3A%22Buffet%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lo%5Cu00efc%22%2C%22lastName%22%3A%22Schmitt%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Vincent%22%2C%22lastName%22%3A%22Antunes%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Fabrice%22%2C%22lastName%22%3A%22Airaud%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Bernard%22%2C%22lastName%22%3A%22Aral%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Amandine%20Le%22%2C%22lastName%22%3A%22Roy%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22S%5Cu00e9bastien%22%2C%22lastName%22%3A%22Corbineau%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lamisse%22%2C%22lastName%22%3A%22Mansour-Hendili%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Valentine%22%2C%22lastName%22%3A%22Lesieur%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Antoine%22%2C%22lastName%22%3A%22Rimbert%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Fabien%22%2C%22lastName%22%3A%22Laporte%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Marine%22%2C%22lastName%22%3A%22Delamare%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Minke%22%2C%22lastName%22%3A%22Rab%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22St%5Cu00e9phane%22%2C%22lastName%22%3A%22B%5Cu00e9zieau%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Bruno%22%2C%22lastName%22%3A%22Cassinat%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Fr%5Cu00e9d%5Cu00e9ric%22%2C%22lastName%22%3A%22Galacteros%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Anne-Paule%22%2C%22lastName%22%3A%22Gimenez-Roqueplo%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Nelly%22%2C%22lastName%22%3A%22Burnichon%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Holger%22%2C%22lastName%22%3A%22Cario%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Richard%20van%22%2C%22lastName%22%3A%22Wijk%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Celeste%22%2C%22lastName%22%3A%22Bento%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Fran%5Cu00e7ois%22%2C%22lastName%22%3A%22Girodon%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22David%22%2C%22lastName%22%3A%22Hoogewijs%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Betty%22%2C%22lastName%22%3A%22Gardie%22%7D%5D%2C%22abstractNote%22%3A%22Gain-of-function%20mutations%20in%20the%20EPAS1%5C%2FHIF2A%20gene%20have%20been%20identified%20in%20patients%20with%20hereditary%20erythrocytosis%20that%20can%20be%20associated%20with%20the%20development%20of%20paraganglioma%2C%20pheochromocytoma%20and%20somatostatinoma.%20In%20the%20present%20study%2C%20we%20describe%20a%20unique%20European%20collection%20of%2041%20patients%20and%2028%20relatives%20diagnosed%20with%20an%20erythrocytosis%20associated%20with%20a%20germline%20genetic%20variant%20in%20EPAS1.%20In%20addition%20we%20identified%20two%20infants%20with%20severe%20erythrocytosis%20associated%20with%20a%20mosaic%20mutation%20present%20in%20less%20than%202%25%20of%20the%20blood%2C%20one%20of%20whom%20later%20developed%20a%20paraganglioma.%20The%20aim%20of%20this%20study%20was%20to%20determine%20the%20causal%20role%20of%20these%20genetic%20variants%2C%20to%20establish%20pathogenicity%2C%20and%20to%20identify%20potential%20candidates%20eligible%20for%20the%20new%20hypoxia-inducible%20factor-2%20%5Cu03b1%20%28HIF-2%5Cu03b1%29%20inhibitor%20treatment.%20Pathogenicity%20was%20predicted%20with%20in%20silico%20tools%20and%20the%20impact%20of%2013%20HIF-2b%20variants%20has%20been%20studied%20by%20using%20canonical%20and%20real-time%20reporter%20luciferase%20assays.%20These%20functional%20assays%20consisted%20of%20a%20novel%20edited%20vector%20containing%20an%20expanded%20region%20of%20the%20erythropoietin%20promoter%20combined%20with%20distal%20regulatory%20elements%20which%20substantially%20enhanced%20the%20HIF-2%5Cu03b1-dependent%20induction.%20Altogether%2C%20our%20studies%20allowed%20the%20classification%20of%2011%20mutations%20as%20pathogenic%20in%2017%20patients%20and%2023%20relatives.%20We%20described%20four%20new%20mutations%20%28D525G%2C%20L526F%2C%20G527K%2C%20A530S%29%20close%20to%20the%20key%20proline%20P531%2C%20which%20broadens%20the%20spectrum%20of%20mutations%20involved%20in%20erythrocytosis.%20Notably%2C%20we%20identified%20patients%20with%20only%20erythrocytosis%20associated%20with%20germline%20mutations%20A530S%20and%20Y532C%20previously%20identified%20at%20somatic%20state%20in%20tumors%2C%20thereby%20raising%20the%20complexity%20of%20the%20genotype%5C%2Fphenotype%20correlations.%20Altogether%2C%20this%20study%20allows%20accurate%20clinical%20follow-up%20of%20patients%20and%20opens%20the%20possibility%20of%20benefiting%20from%20HIF-2%5Cu03b1%20inhibitor%20treatment%2C%20so%20far%20the%20only%20targeted%20treatment%20in%20hypoxia-related%20erythrocytosis%20disease.%22%2C%22date%22%3A%222023-01-26%22%2C%22language%22%3A%22en%22%2C%22DOI%22%3A%2210.3324%5C%2Fhaematol.2022.281698%22%2C%22ISSN%22%3A%221592-8721%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fhaematologica.org%5C%2Farticle%5C%2Fview%5C%2Fhaematol.2022.281698%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222023-06-22T10%3A56%3A13Z%22%7D%7D%2C%7B%22key%22%3A%22ZBCVISPT%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Manco%20et%20al.%22%2C%22parsedDate%22%3A%222023%22%2C%22numChildren%22%3A2%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EManco%2C%20L.%2C%20Albuquerque%2C%20D.%2C%20Aranda%2C%20B.%2C%20Rodrigues%2C%20D.%2C%20Machado-Rodrigues%2C%20A.%20M.%2C%20%26amp%3B%20Padez%2C%20C.%20%282023%29.%20Differential%20sex-association%20between%20PCSK1%20polymorphisms%20and%20obesity%20risk%20in%20Portuguese%20children.%20%3Ci%3EAmerican%20Journal%20of%20Human%20Biology%3C%5C%2Fi%3E%2C%20%3Ci%3En%5C%2Fa%3C%5C%2Fi%3E%28n%5C%2Fa%29%2C%20e24023.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1002%5C%2Fajhb.24023%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1002%5C%2Fajhb.24023%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Differential%20sex-association%20between%20PCSK1%20polymorphisms%20and%20obesity%20risk%20in%20Portuguese%20children%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lic%5Cu00ednio%22%2C%22lastName%22%3A%22Manco%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22David%22%2C%22lastName%22%3A%22Albuquerque%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Beatriz%22%2C%22lastName%22%3A%22Aranda%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Daniela%22%2C%22lastName%22%3A%22Rodrigues%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Aristides%20M.%22%2C%22lastName%22%3A%22Machado-Rodrigues%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Cristina%22%2C%22lastName%22%3A%22Padez%22%7D%5D%2C%22abstractNote%22%3A%22Objectives%20The%20proprotein%20convertase%20subtilisin%5C%2FKexin%20type%201%20gene%20%28PCSK1%29%20is%20implicated%20in%20hypothalamic%20appetite%20control.%20Several%20studies%20have%20addressed%20the%20relationship%20between%20PCSK1%20polymorphisms%20and%20obesity%2C%20although%20conflicting%20results%20were%20observed.%20We%20tested%20the%20potential%20association%20of%20four%20PCSK1%20variants%20with%20the%20risk%20of%20overweight%5C%2Fobesity%20and%20related%20variables%20in%20Portuguese%20children.%20Methods%20This%20is%20a%20case%5Cu2013control%20study%2C%20where%20four%20PCSK1%20variants%2C%20rs6230%20%28c.%5Cu2212101T%3EC%29%2C%20rs6232%20%28p.N221D%29%2C%20rs6235%20%28p.S690T%29%2C%20and%20rs3811942%20%28c.%2A265T%3EC%29%2C%20were%20analyzed%20in%20Portuguese%20children%20%28aged%205%5Cu201313%20years-old%29.%20Anthropometric%20measures%20were%20objectively%20collected%20and%20used%20to%20provide%20weight-for-age%2C%20height-for-age%2C%20and%20body%20mass%20index%20%28BMI%29%20for%20age.%20The%20indices%20generated%20were%20compared%20to%20standard%20reference%20values%20of%20WHO%20to%20obtain%20the%20corresponding%20Z-scores.%20Results%20Logistic%20regression%2C%20in%20the%20dominant%20model%2C%20revealed%20no%20significant%20associations%20between%20the%20four%20individual%20PCSK1%20variants%20and%20the%20risk%20of%20overweight%5C%2Fobesity%20in%20the%20total%20population.%20However%2C%20stratifying%20the%20sample%20by%20sex%2C%20a%20marginally%20significant%20association%20was%20found%20between%20the%20rs6235%20minor%20C-allele%20and%20increased%20overweight%5C%2Fobesity%20in%20boys%20%28n%20%3D%20345%29%20%28OR%201.55%20%5B1.01%5Cu20132.38%5D%20p%20%3D%20.044%29%2C%20but%20not%20in%20girls%20%28n%20%3D%20340%29%20%28OR%200.73%20%5B0.46%5Cu20131.14%5D%20p%20%3D%20.169%29.%20Consistently%2C%20boys%20with%20genotype%20GG%20presented%20lower%20BMI%20Z-score%20%280.62%29%20when%20compared%20to%20those%20with%20the%20genotypes%20GC%20%2B%20CC%20%281.04%29.%20Testing%20for%20different%20effects%20in%20males%20versus%20females%2C%20a%20significant%20interaction%20was%20found%20between%20the%20rs6235%20polymorphism%20and%20sex%20for%20BMI%20Z-score%20%28p%20%3D%20.025%29.%20Conclusions%20Results%20of%20this%20study%20suggest%20for%20a%20sex-differentiated%20association%20between%20PCSK1%20rs6235%20and%20overweight%5C%2F%20obesity%20in%20Portuguese%20children.%22%2C%22date%22%3A%222023%22%2C%22language%22%3A%22en%22%2C%22DOI%22%3A%2210.1002%5C%2Fajhb.24023%22%2C%22ISSN%22%3A%221520-6300%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fonlinelibrary.wiley.com%5C%2Fdoi%5C%2Fabs%5C%2F10.1002%5C%2Fajhb.24023%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222024-02-01T13%3A37%3A30Z%22%7D%7D%2C%7B%22key%22%3A%22SLMHXYYW%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Ma%5Cu00f1%5Cu00fa%20Pereira%20et%20al.%22%2C%22parsedDate%22%3A%222023%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EMa%26%23xF1%3B%26%23xFA%3B%20Pereira%2C%20M.%20D.%20M.%2C%20Colombatti%2C%20R.%2C%20Alvarez%2C%20F.%2C%20Bartolucci%2C%20P.%2C%20Bento%2C%20C.%2C%20Brunetta%2C%20A.%20L.%2C%20Cela%2C%20E.%2C%20Christou%2C%20S.%2C%20Collado%2C%20A.%2C%20de%20Montalembert%2C%20M.%2C%20Dedeken%2C%20L.%2C%20Fenaux%2C%20P.%2C%20Galacteros%2C%20F.%2C%20Glenth%26%23xF8%3Bj%2C%20A.%2C%20Guti%26%23xE9%3Brrez%20Valle%2C%20V.%2C%20Kattamis%2C%20A.%2C%20Kunz%2C%20J.%2C%20Lobitz%2C%20S.%2C%20McMahon%2C%20C.%2C%20%26%23x2026%3B%20Gulbis%2C%20B.%20%282023%29.%20Sickle%20cell%20disease%20landscape%20and%20challenges%20in%20the%20EU%3A%20the%20ERN-EuroBloodNet%20perspective.%20%3Ci%3EThe%20Lancet.%20Haematology%3C%5C%2Fi%3E%2C%20%3Ci%3E10%3C%5C%2Fi%3E%288%29%2C%20e687%26%23x2013%3Be694.%20Scopus.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1016%5C%2FS2352-3026%2823%2900182-5%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1016%5C%2FS2352-3026%2823%2900182-5%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Sickle%20cell%20disease%20landscape%20and%20challenges%20in%20the%20EU%3A%20the%20ERN-EuroBloodNet%20perspective%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.D.M.%22%2C%22lastName%22%3A%22Ma%5Cu00f1%5Cu00fa%20Pereira%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22R.%22%2C%22lastName%22%3A%22Colombatti%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22F.%22%2C%22lastName%22%3A%22Alvarez%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22P.%22%2C%22lastName%22%3A%22Bartolucci%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C.%22%2C%22lastName%22%3A%22Bento%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22A.L.%22%2C%22lastName%22%3A%22Brunetta%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22E.%22%2C%22lastName%22%3A%22Cela%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22S.%22%2C%22lastName%22%3A%22Christou%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22A.%22%2C%22lastName%22%3A%22Collado%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%22%2C%22lastName%22%3A%22de%20Montalembert%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22L.%22%2C%22lastName%22%3A%22Dedeken%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22P.%22%2C%22lastName%22%3A%22Fenaux%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22F.%22%2C%22lastName%22%3A%22Galacteros%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22A.%22%2C%22lastName%22%3A%22Glenth%5Cu00f8j%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22V.%22%2C%22lastName%22%3A%22Guti%5Cu00e9rrez%20Valle%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22A.%22%2C%22lastName%22%3A%22Kattamis%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22J.%22%2C%22lastName%22%3A%22Kunz%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22S.%22%2C%22lastName%22%3A%22Lobitz%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C.%22%2C%22lastName%22%3A%22McMahon%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%22%2C%22lastName%22%3A%22Pellegrini%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22S.%22%2C%22lastName%22%3A%22Reidel%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22G.%22%2C%22lastName%22%3A%22Russo%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%22%2C%22lastName%22%3A%22Santos%20Freire%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22E.%22%2C%22lastName%22%3A%22van%20Beers%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22P.%22%2C%22lastName%22%3A%22Kountouris%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22B.%22%2C%22lastName%22%3A%22Gulbis%22%7D%5D%2C%22abstractNote%22%3A%22Sickle%20cell%20disease%20is%20a%20hereditary%20multiorgan%20disease%20that%20is%20considered%20rare%20in%20the%20EU.%20In%202017%2C%20the%20Rare%20Diseases%20Plan%20was%20implemented%20within%20the%20EU%20and%2024%20European%20Reference%20Networks%20%28ERNs%29%20were%20created%2C%20including%20the%20ERN%20on%20Rare%20Haematological%20Diseases%20%28ERN-EuroBloodNet%29%2C%20dedicated%20to%20rare%20haematological%20diseases.%20This%20EU%20initiative%20has%20made%20it%20possible%20to%20accentuate%20existing%20collaborations%20and%20create%20new%20ones.%20The%20project%20also%20made%20it%20possible%20to%20list%20all%20the%20needs%20of%20people%20with%20rare%20haematological%20diseases%20not%20yet%20covered%20health-care%20providers%20in%20the%20EU%20to%20allow%20optimised%20care%20of%20individuals%20with%20rare%20pathologies%2C%20including%20sickle%20cell%20disease.%20This%20Viewpoint%20is%20the%20result%20of%20joint%20work%20within%2012%20EU%20member%20states%20%28ie%2C%20Belgium%2C%20Cyprus%2C%20Denmark%2C%20France%2C%20Germany%2C%20Greece%2C%20Ireland%2C%20Italy%2C%20Portugal%2C%20Spain%2C%20Sweden%2C%20and%20The%20Netherlands%29%2C%20all%20members%20of%20the%20ERN-EuroBloodNet.%20We%20describe%20the%20role%20of%20the%20ERN-EuroBloodNet%20to%20improve%20the%20overall%20approach%20to%20and%20the%20management%20of%20individuals%20with%20sickle%20cell%20disease%20in%20the%20EU%20through%20specific%20on%20the%20pooling%20of%20expertise%2C%20knowledge%2C%20and%20best%20practices%3B%20the%20development%20of%20training%20and%20education%20programmes%3B%20the%20strategy%20for%20systematic%20gathering%20and%20standardisation%20of%20clinical%20data%3B%20and%20its%20reuse%20in%20clinical%20research.%20Epidemiology%20and%20research%20strategies%20from%20ongoing%20implementation%20of%20the%20Rare%20Anaemia%20Disorders%20European%20Epidemiological%20Platform%20is%20depicted.%20Copyright%20%5Cu00a9%202023%20Elsevier%20Ltd.%20All%20rights%20reserved.%22%2C%22date%22%3A%222023%22%2C%22language%22%3A%22English%22%2C%22DOI%22%3A%2210.1016%5C%2FS2352-3026%2823%2900182-5%22%2C%22ISSN%22%3A%222352-3026%22%2C%22url%22%3A%22%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222023-10-12T10%3A58%3A38Z%22%7D%7D%2C%7B%22key%22%3A%22ULQ96DLV%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Kountouris%20et%20al.%22%2C%22parsedDate%22%3A%222022-08%22%2C%22numChildren%22%3A2%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EKountouris%2C%20P.%2C%20Stephanou%2C%20C.%2C%20Lederer%2C%20C.%20W.%2C%20Traeger-Synodinos%2C%20J.%2C%20Bento%2C%20C.%2C%20Harteveld%2C%20C.%20L.%2C%20Fylaktou%2C%20E.%2C%20Koopmann%2C%20T.%20T.%2C%20Halim-Fikri%2C%20H.%2C%20Michailidou%2C%20K.%2C%20Nfonsam%2C%20L.%20E.%2C%20Waye%2C%20J.%20S.%2C%20Zilfalil%2C%20B.%20A.%2C%20Kleanthous%2C%20M.%2C%20%26amp%3B%20ClinGen%20Hemoglobinopathy%20Variant%20Curation%20Expert%20Panel.%20%282022%29.%20Adapting%20the%20ACMG%5C%2FAMP%20variant%20classification%20framework%3A%20A%20perspective%20from%20the%20ClinGen%20Hemoglobinopathy%20Variant%20Curation%20Expert%20Panel.%20%3Ci%3EHuman%20Mutation%3C%5C%2Fi%3E%2C%20%3Ci%3E43%3C%5C%2Fi%3E%288%29%2C%201089%26%23x2013%3B1096.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1002%5C%2Fhumu.24280%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1002%5C%2Fhumu.24280%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Adapting%20the%20ACMG%5C%2FAMP%20variant%20classification%20framework%3A%20A%20perspective%20from%20the%20ClinGen%20Hemoglobinopathy%20Variant%20Curation%20Expert%20Panel%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Petros%22%2C%22lastName%22%3A%22Kountouris%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Coralea%22%2C%22lastName%22%3A%22Stephanou%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Carsten%20W.%22%2C%22lastName%22%3A%22Lederer%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Joanne%22%2C%22lastName%22%3A%22Traeger-Synodinos%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Celeste%22%2C%22lastName%22%3A%22Bento%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Cornelis%20L.%22%2C%22lastName%22%3A%22Harteveld%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Eirini%22%2C%22lastName%22%3A%22Fylaktou%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Tamara%20T.%22%2C%22lastName%22%3A%22Koopmann%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Hashim%22%2C%22lastName%22%3A%22Halim-Fikri%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Kyriaki%22%2C%22lastName%22%3A%22Michailidou%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Landry%20E.%22%2C%22lastName%22%3A%22Nfonsam%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22John%20S.%22%2C%22lastName%22%3A%22Waye%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Bin%20A.%22%2C%22lastName%22%3A%22Zilfalil%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Marina%22%2C%22lastName%22%3A%22Kleanthous%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22name%22%3A%22ClinGen%20Hemoglobinopathy%20Variant%20Curation%20Expert%20Panel%22%7D%5D%2C%22abstractNote%22%3A%22Accurate%20and%20consistent%20interpretation%20of%20sequence%20variants%20is%20integral%20to%20the%20delivery%20of%20safe%20and%20reliable%20diagnostic%20genetic%20services.%20To%20standardize%20the%20interpretation%20process%2C%20in%202015%2C%20the%20American%20College%20of%20Medical%20Genetics%20and%20Genomics%20%28ACMG%29%20and%20the%20Association%20for%20Molecular%20Pathology%20%28AMP%29%20published%20a%20joint%20guideline%20based%20on%20a%20set%20of%20shared%20standards%20for%20the%20classification%20of%20variants%20in%20Mendelian%20diseases.%20The%20generality%20of%20these%20standards%20and%20their%20subjective%20interpretation%20between%20laboratories%20has%20prompted%20efforts%20to%20reduce%20discordance%20of%20variant%20classifications%2C%20with%20a%20focus%20on%20the%20expert%20specification%20of%20the%20ACMG%5C%2FAMP%20guidelines%20for%20individual%20genes%20or%20diseases.%20Herein%2C%20we%20describe%20our%20experience%20as%20a%20ClinGen%20Variant%20Curation%20Expert%20Panel%20to%20adapt%20the%20ACMG%5C%2FAMP%20criteria%20for%20the%20classification%20of%20variants%20in%20three%20globin%20genes%20%28HBB%2C%20HBA2%2C%20and%20HBA1%29%20related%20to%20recessively%20inherited%20hemoglobinopathies%2C%20including%20five%20evidence%20categories%2C%20as%20use%20cases%20demonstrating%20the%20process%20of%20specification%20and%20the%20underlying%20rationale.%22%2C%22date%22%3A%222022-08%22%2C%22language%22%3A%22eng%22%2C%22DOI%22%3A%2210.1002%5C%2Fhumu.24280%22%2C%22ISSN%22%3A%221098-1004%22%2C%22url%22%3A%22%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222023-02-17T11%3A49%3A07Z%22%7D%7D%2C%7B%22key%22%3A%22JFRL98DQ%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Manco%20et%20al.%22%2C%22parsedDate%22%3A%222022-05-04%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EManco%2C%20L.%2C%20Santos%2C%20R.%2C%20Rocha%2C%20C.%2C%20Relvas%2C%20L.%2C%20Bento%2C%20C.%2C%20Maia%2C%20T.%2C%20Gomes%2C%20V.%2C%20Amorim%2C%20A.%2C%20%26amp%3B%20Prata%2C%20M.%20J.%20%282022%29.%20Hb%20F%20Levels%20in%20%26%23x3B2%3B-Thalassemia%20Carriers%20and%20Normal%20Individuals%3A%20Known%20and%20Unknown%20Quantitative%20Trait%20Loci%20in%20the%20%26%23x3B2%3B-Globin%20Gene%20Cluster.%20%3Ci%3EHemoglobin%3C%5C%2Fi%3E%2C%20%3Ci%3E46%3C%5C%2Fi%3E%283%29%2C%20168%26%23x2013%3B175.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1080%5C%2F03630269.2022.2070498%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1080%5C%2F03630269.2022.2070498%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Hb%20F%20Levels%20in%20%5Cu03b2-Thalassemia%20Carriers%20and%20Normal%20Individuals%3A%20Known%20and%20Unknown%20Quantitative%20Trait%20Loci%20in%20the%20%5Cu03b2-Globin%20Gene%20Cluster%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lic%5Cu00ednio%22%2C%22lastName%22%3A%22Manco%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Raquel%22%2C%22lastName%22%3A%22Santos%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Catarina%22%2C%22lastName%22%3A%22Rocha%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lu%5Cu00eds%22%2C%22lastName%22%3A%22Relvas%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Celeste%22%2C%22lastName%22%3A%22Bento%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Tabita%22%2C%22lastName%22%3A%22Maia%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Ver%5Cu00f3nica%22%2C%22lastName%22%3A%22Gomes%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Ant%5Cu00f3nio%22%2C%22lastName%22%3A%22Amorim%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Maria%20J.%22%2C%22lastName%22%3A%22Prata%22%7D%5D%2C%22abstractNote%22%3A%22In%20the%20already%20identified%20quantitative%20trait%20loci%20%28QTL%29%2C%20modulating%20Hb%20F%20levels%20are%20cis-acting%20haplotypes%20of%20the%20%5Cu03b2-globin%20gene%20cluster%20itself%2C%20although%20the%20single%20nucleotide%20polymorphisms%20%28SNPs%29%20accounting%20more%20for%20the%20association%2C%20remain%20uncertain.%20In%20this%20study%2C%20the%20role%20in%20Hb%20F%20production%20of%20previously%20reported%20candidate%20SNPs%20within%20the%20%5Cu03b2-globin%20gene%20cluster%20was%20reexamined%2C%20along%20with%20a%20yet%20poorly%20studied%20variation%20in%20the%20BGLT3%20gene.%20In%20a%20sample%20of%20%5Cu03b2-thalassemia%20%28%5Cu03b2-thal%29%20carriers%2C%20we%20succeeded%20in%20replicating%20the%20significant%20association%20between%20increased%20Hb%20F%20levels%20and%20rs7482144%20%28C%3ET%29%20%28HBG2%20XmnI%29%2C%20which%20is%20the%20most%20well-established%20variation%20in%20the%20cluster%20influencing%20the%20trait.%20This%20SNP%20was%20found%20to%20be%20in%20strong%20linkage%20disequilibrium%20%28LD%29%20with%20a%20variation%20in%20the%20HBBP1%20gene%20%5Brs10128556%20%28G%3EA%29%5D%2C%20which%20consistently%20revealed%20a%20similar%20association%20signal.%20Remarkably%2C%20much%20stronger%20than%20the%20latter%20associations%20were%20those%20involving%20both%20rs968857%20%28T%20allele%29%20%283%27%20HBBP1%29%20and%20rs7924684%20%28G%20allele%29%20%28BGLT3%29%2C%20two%20SNPs%20that%20were%20also%20in%20strong%20LD.%20As%20the%20pattern%20of%20LD%20detected%20in%20the%20%5Cu03b2-globin%20gene%20cluster%20does%20not%20correlate%20with%20a%20tight%20linkage%20between%20markers%2C%20complex%20interactions%20between%20SNPs%20at%20the%20cluster%20seem%20to%20modulate%20Hb%20F.%20Seeing%20that%20no%20such%20associations%20were%20detected%20in%20normal%20subjects%2C%20the%20question%20can%20be%20raised%20on%20whether%2C%20under%20erythropoiesis%20stress%2C%20epigenetic%20mechanisms%20contribute%20to%20change%20the%20regulation%20of%20the%20entire%20%5Cu03b2-globin%20gene%20cluster.%20In%20conclusion%2C%20we%20provide%20statistical%20evidence%20for%20a%20new%20player%20within%20the%20%5Cu03b2-globin%20gene%20cluster%2C%20BGLT3%2C%20that%20in%20cooperation%20with%20other%20regions%20influences%20Hb%20F%20levels%20in%20%5Cu03b2-thal%20carriers.%22%2C%22date%22%3A%222022-05-04%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%2210.1080%5C%2F03630269.2022.2070498%22%2C%22ISSN%22%3A%220363-0269%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1080%5C%2F03630269.2022.2070498%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222023-05-15T10%3A18%3A13Z%22%7D%7D%2C%7B%22key%22%3A%22S9FCKM27%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Manco%20and%20Dias%22%2C%22parsedDate%22%3A%222022-04%22%2C%22numChildren%22%3A2%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EManco%2C%20L.%2C%20%26amp%3B%20Dias%2C%20H.%20C.%20%282022%29.%20DNA%20methylation%20analysis%20of%20ELOVL2%20gene%20using%20droplet%20digital%20PCR%20for%20age%20estimation%20purposes.%20%3Ci%3EForensic%20Science%20International%3C%5C%2Fi%3E%2C%20%3Ci%3E333%3C%5C%2Fi%3E%2C%20111206.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1016%5C%2Fj.forsciint.2022.111206%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1016%5C%2Fj.forsciint.2022.111206%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22DNA%20methylation%20analysis%20of%20ELOVL2%20gene%20using%20droplet%20digital%20PCR%20for%20age%20estimation%20purposes%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lic%5Cu00ednio%22%2C%22lastName%22%3A%22Manco%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Helena%20Correia%22%2C%22lastName%22%3A%22Dias%22%7D%5D%2C%22abstractNote%22%3A%22DNA%20methylation%20%28DNAm%29%20evaluation%20has%20been%20investigated%20in%20various%20tissues%20and%20body%20fluids%20allowing%20the%20identification%20of%20many%20CpG%20markers%20with%20high%20correlations%20with%20chronological%20age%2C%20potentially%20useful%20for%20forensic%20analysis.%20We%20developed%20a%20duplex%20droplet%20digital%20PCR%20%28ddPCR%29%20assay%20to%20address%20methylation%20levels%20of%20ELOVL2%20gene%20CpG%20sites.%20DNA%20samples%20obtained%20from%20peripheral%20blood%20of%2056%20healthy%20individuals%20%2835%20women%2C%2021%20men%3B%20aged%201-94%20years%20old%29%20were%20submitted%20to%20bisulfite%20conversion%2C%20followed%20by%20ddPCR%20analysis%20for%20a%20selected%20region%20of%20ELOVL2%20and%20the%20reference%20gene%20C-LESSC1.%20Simple%20linear%20regression%20revealed%20a%20strong%20correlation%20between%20DNAm%20simultaneous%20captured%20from%20five%20CpG%20sites%20of%20ELOVL2%20gene%20and%20chronological%20age%20%28R%5Cu00a0%3D%5Cu00a00.892%3B%20P%5Cu00a0%3D%5Cu00a02.84%5Cu00a0%5Cu00d7%5Cu00a010-20%29%2C%20explaining%2079.2%25%20of%20age%20variation.%20The%20obtained%20mean%20absolute%20deviation%20%28MAD%29%20between%20predicted%20and%20chronological%20ages%20was%2010.07%20years.%20Here%20we%20describe%20a%20ddPCR-based%20assay%20to%20assess%20DNAm%20in%20ELOVL2%20gene%20as%20a%20biomarker%20for%20potential%20use%20in%20forensic%20age%20prediction.%22%2C%22date%22%3A%222022-04%22%2C%22language%22%3A%22eng%22%2C%22DOI%22%3A%2210.1016%5C%2Fj.forsciint.2022.111206%22%2C%22ISSN%22%3A%221872-6283%22%2C%22url%22%3A%22%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222023-05-15T10%3A19%3A03Z%22%7D%7D%2C%7B%22key%22%3A%22B4JL98HP%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Kirschner%20et%20al.%22%2C%22parsedDate%22%3A%222022%22%2C%22numChildren%22%3A2%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EKirschner%2C%20M.%2C%20Heinen%2C%20I.%20R.%2C%20Koschmieder%2C%20S.%2C%20Manco%2C%20L.%2C%20Bento%2C%20C.%2C%20Eggermann%2C%20T.%2C%20Kurth%2C%20I.%2C%20Jost%2C%20E.%2C%20Br%26%23xFC%3Bmmendorf%2C%20T.%20H.%2C%20%26amp%3B%20Fuchs%2C%20R.%20%282022%29.%20Novel%20homozygous%20nonsense%20mutation%20in%20the%20P5%26%23x2032%3BN-1%20coding%20gene%20as%20an%20alternative%20cause%20for%20hereditary%20anemia%20with%20basophilic%20stippling.%20%3Ci%3EClinical%20Case%20Reports%3C%5C%2Fi%3E%2C%20%3Ci%3E10%3C%5C%2Fi%3E%283%29%2C%20e05501.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1002%5C%2Fccr3.5501%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1002%5C%2Fccr3.5501%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Novel%20homozygous%20nonsense%20mutation%20in%20the%20P5%5Cu2032N-1%20coding%20gene%20as%20an%20alternative%20cause%20for%20hereditary%20anemia%20with%20basophilic%20stippling%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Martin%22%2C%22lastName%22%3A%22Kirschner%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Inga%20Rebecca%22%2C%22lastName%22%3A%22Heinen%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Steffen%22%2C%22lastName%22%3A%22Koschmieder%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Licinio%22%2C%22lastName%22%3A%22Manco%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Celeste%22%2C%22lastName%22%3A%22Bento%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Thomas%22%2C%22lastName%22%3A%22Eggermann%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Ingo%22%2C%22lastName%22%3A%22Kurth%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Edgar%22%2C%22lastName%22%3A%22Jost%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Tim%20H.%22%2C%22lastName%22%3A%22Br%5Cu00fcmmendorf%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Roland%22%2C%22lastName%22%3A%22Fuchs%22%7D%5D%2C%22abstractNote%22%3A%22Hereditary%20pyrimidine%205-nucleotidase%20%28P5%5Cu2032N-1%29%20deficiency%20is%20a%20very%20rare%20disorder.%20Here%2C%20we%20describe%20a%20new%20mutation%20in%20a%20Turkish%20family.%20Although%20functional%20tests%20have%20not%20been%20performed%2C%20our%20findings%20confirm%20that%20the%20homozygous%20mutational%20state%20leads%20to%20clinical%20manifest%20P5%5Cu2032N-1%20deficiency%2C%20while%20heterozygosity%20does%20not%20lead%20to%20hemolysis%20or%20anemia.%22%2C%22date%22%3A%222022%22%2C%22language%22%3A%22en%22%2C%22DOI%22%3A%2210.1002%5C%2Fccr3.5501%22%2C%22ISSN%22%3A%222050-0904%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fonlinelibrary.wiley.com%5C%2Fdoi%5C%2Fabs%5C%2F10.1002%5C%2Fccr3.5501%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222023-05-15T10%3A19%3A39Z%22%7D%7D%2C%7B%22key%22%3A%226N8B5857%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Pascual%20et%20al.%22%2C%22parsedDate%22%3A%222021%22%2C%22numChildren%22%3A2%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EPascual%2C%20C.%2C%20Nieto%2C%20J.%20M.%2C%20Fidalgo%2C%20T.%2C%20Segu%26%23xED%3B%2C%20I.%20G.%2C%20D%26%23xED%3Baz-Ricart%2C%20M.%2C%20Docampo%2C%20M.%20F.%2C%20del%20Rio%2C%20J.%2C%20%26amp%3B%20Salinas%2C%20R.%20%282021%29.%20Multicentric%20evaluation%20of%20the%20new%20HemosIL%20Acustar%26%23xAE%3B%20chemiluminescence%20ADAMTS13%20activity%20assay.%20%3Ci%3EInternational%20Journal%20of%20Laboratory%20Hematology%3C%5C%2Fi%3E%2C%20%3Ci%3E43%3C%5C%2Fi%3E%283%29%2C%20485%26%23x2013%3B493.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1111%5C%2Fijlh.13414%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1111%5C%2Fijlh.13414%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Multicentric%20evaluation%20of%20the%20new%20HemosIL%20Acustar%5Cu00ae%20chemiluminescence%20ADAMTS13%20activity%20assay%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Cristina%22%2C%22lastName%22%3A%22Pascual%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jorge%20M.%22%2C%22lastName%22%3A%22Nieto%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Teresa%22%2C%22lastName%22%3A%22Fidalgo%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22In%5Cu00e9s%20G%5Cu00f3mez%22%2C%22lastName%22%3A%22Segu%5Cu00ed%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Maribel%22%2C%22lastName%22%3A%22D%5Cu00edaz-Ricart%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Marta%20Fern%5Cu00e1ndez%22%2C%22lastName%22%3A%22Docampo%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Julio%22%2C%22lastName%22%3A%22del%20Rio%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Ramon%22%2C%22lastName%22%3A%22Salinas%22%7D%5D%2C%22abstractNote%22%3A%22Introduction%20Thrombotic%20thrombocytopenic%20purpura%20%28TTP%29%20is%20a%20rare%20life-threatening%20thrombotic%20microangiopathy%20%28TMA%29%20characterized%20by%20the%20severe%20deficiency%20of%20ADAMTS13%20activity%20%28%3C10%25%29.%20Rapid%20ADAMTS13%20testing%20is%20crucial%20for%20early%20diagnosis%20and%20optimal%20management%20of%20TTP%20patients%20and%20other%20TMAs.%20The%20objective%20of%20this%20study%20was%20to%20retrospectively%20evaluate%20the%20performance%20of%20the%20recently%20commercialized%20HemosIL%20Acustar%5Cu00ae%20ADAMTS13%20activity%20chemiluminescent%20immunoassay%20%28Instrumentation%20Laboratory%2C%20Bedford%2C%20Massachusetts%2C%20United%20States%29%20in%20a%20multicentric%20study%20between%20Spain%20and%20Portugal.%20Methods%20A%20comparison%20method%20was%20performed%20to%20compare%20HemosIL%20Acustar%5Cu00ae%20with%20an%20in-house%20FRETS-VWF73%20assay%20and%20two%20commercial%20ELISA%20assays%3A%20the%20TECHNOZYM%5Cu00ae%20ADAMTS13%20Activity%20%28Technoclone%20GmbH%2C%20Vienna%2C%20Austria%29%20and%20the%20DG-EIA%20ADAMTS-13%20Activity%20%28Diagnostic%20Grifols%2C%20SA%2C%20Barcelona%2C%20Spain%29.%20A%20set%20of%20241%20frozen%20plasma%20samples%20with%20known%20ADAMST13%20levels%20was%20used.%20Agreement%20between%20methods%20was%20assessed%20with%20focus%20on%20two%20cut-off%20ADAMTS13%20activity%20values%3A%20%3C10%25%20%28the%20clinical%20accepted%20cut-off%20value%20to%20confirm%20TTP%20diagnosis%29%20and%20%3C5%25.%20Results%20HemosIL%20AcuStar%5Cu00ae%20showed%20high%20agreement%20with%20the%20other%20methods%20in%20correctly%20classify%20patients%20with%20ADAMTS13%20values%20below%2010%25%20%28Kappa%20%3D%200.89%29%20and%20even%20below%205%25%20%28Kappa%20%3D%200.94%29%20with%20no%20false%20negatives%20and%20few%20false%20positives%20%285.40%25%3B%2095%25%20CI%3A%202.20%20to%208.60%25%29.%20However%2C%20it%20also%20tended%20to%20underestimate%20ADAMTS13%20levels%2C%20especially%20for%20the%20high%20assay%20range%20values%20%28%3E40%25%29%20%28absolute%20mean%20bias%20of%208.40%25%20%2895%25%20CI%3A%206.53%20to%2010.42%25%29%29%20when%20compared%20to%20other%20assays.%20Conclusions%20HemosIL%20AcuStar%5Cu00ae%20is%20highly%20sensitive%20to%20detect%20ADAMTS13%20values%20below%2010%25%20and%205%25.%20A%20large%20prospective%20validation%20study%20is%20needed%20to%20corroborate%20its%20utility%20in%20clinical%20practice.%22%2C%22date%22%3A%222021%22%2C%22language%22%3A%22en%22%2C%22DOI%22%3A%2210.1111%5C%2Fijlh.13414%22%2C%22ISSN%22%3A%221751-553X%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fonlinelibrary.wiley.com%5C%2Fdoi%5C%2Fabs%5C%2F10.1111%5C%2Fijlh.13414%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222023-12-05T15%3A50%3A58Z%22%7D%7D%2C%7B%22key%22%3A%22RZ6BWF6D%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Correia%20Dias%20et%20al.%22%2C%22parsedDate%22%3A%222021%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3ECorreia%20Dias%2C%20H.%2C%20Manco%2C%20L.%2C%20Corte%20Real%2C%20F.%2C%20%26amp%3B%20Cunha%2C%20E.%20%282021%29.%20A%20Blood%26%23x2013%3BBone%26%23x2013%3BTooth%20Model%20for%20Age%20Prediction%20in%20Forensic%20Contexts.%20%3Ci%3EBiology%3C%5C%2Fi%3E%2C%20%3Ci%3E10%3C%5C%2Fi%3E%2812%29%2C%201312.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.3390%5C%2Fbiology10121312%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.3390%5C%2Fbiology10121312%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22A%20Blood%5Cu2013Bone%5Cu2013Tooth%20Model%20for%20Age%20Prediction%20in%20Forensic%20Contexts%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22H.%22%2C%22lastName%22%3A%22Correia%20Dias%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22L.%22%2C%22lastName%22%3A%22Manco%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22F%22%2C%22lastName%22%3A%22Corte%20Real%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22E.%22%2C%22lastName%22%3A%22Cunha%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%222021%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%2210.3390%5C%2Fbiology10121312%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.3390%5C%2Fbiology10121312%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222021-12-14T11%3A05%3A06Z%22%7D%7D%2C%7B%22key%22%3A%228HXU69MT%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Dias%22%2C%22parsedDate%22%3A%222021%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EDias%2C%20H.%20%282021%29.%20%3Ci%3EMetila%26%23xE7%3B%26%23xE3%3Bo%20de%20DNA%20como%20um%20preditor%20de%20idade%20%26%23xE0%3B%20morte.%20Tese%20de%20Doutoramento%20em%20Antropologia%2C%20especializa%26%23xE7%3B%26%23xE3%3Bo%20em%20Antropologia%20Forense.%3C%5C%2Fi%3E%20Departamento%20de%20Ci%26%23xEA%3Bncias%20da%20Vida%2C%20Faculdade%20de%20Ci%26%23xEA%3Bncias%20e%20Tecnologia%2C%20Universidade%20de%20Coimbra%20%5BOrienta%26%23xE7%3B%26%23xE3%3Bo%3A%20Professora%20Eug%26%23xE9%3Bnia%20Cunha%2C%20Professor%20Lic%26%23xED%3Bnio%20Manco%2C%20Professor%20Francisco%20Corte%20Real%5D.%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22book%22%2C%22title%22%3A%22Metila%5Cu00e7%5Cu00e3o%20de%20DNA%20como%20um%20preditor%20de%20idade%20%5Cu00e0%20morte.%20Tese%20de%20Doutoramento%20em%20Antropologia%2C%20especializa%5Cu00e7%5Cu00e3o%20em%20Antropologia%20Forense.%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22HC%22%2C%22lastName%22%3A%22Dias%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%222021%22%2C%22language%22%3A%22%22%2C%22ISBN%22%3A%22%22%2C%22url%22%3A%22%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22JX5GFNB7%22%5D%2C%22dateModified%22%3A%222021-07-15T09%3A53%3A24Z%22%7D%7D%2C%7B%22key%22%3A%22BWC5FL9G%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Gonz%5Cu00e1lez%20et%20al.%22%2C%22parsedDate%22%3A%222021%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EGonz%26%23xE1%3Blez%2C%20L.%2C%20Garc%26%23xED%3Ba%26%23x2011%3BHerr%26%23xE1%3Biz%2C%20A.%2C%20Mota%26%23x2011%3BZamorano%2C%20S.%2C%20Flores%2C%20I.%2C%20Albuquerque%2C%20D.%2C%20%26amp%3B%20Gervacini%2C%20G.%20%282021%29.%20Variability%20in%20cannabinoid%20receptor%20genes%20is%20associated%20with%20psychiatric%20comorbidities%20in%20anorexia%20nervosa.%20%3Ci%3EEating%20and%20Weight%20Disorders%3C%5C%2Fi%3E%2C%20%3Ci%3E%5BEarly%20View%5D%3C%5C%2Fi%3E.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1007%5C%2Fs40519-021-01106-7%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1007%5C%2Fs40519-021-01106-7%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Variability%20in%20cannabinoid%20receptor%20genes%20is%20associated%20with%20psychiatric%20comorbidities%20in%20anorexia%20nervosa%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22LM%22%2C%22lastName%22%3A%22Gonz%5Cu00e1lez%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22A%22%2C%22lastName%22%3A%22Garc%5Cu00eda%5Cu2011Herr%5Cu00e1iz%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22S%22%2C%22lastName%22%3A%22Mota%5Cu2011Zamorano%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22I%22%2C%22lastName%22%3A%22Flores%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22D%22%2C%22lastName%22%3A%22Albuquerque%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22G%22%2C%22lastName%22%3A%22Gervacini%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%222021%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%2210.1007%5C%2Fs40519-021-01106-7%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1007%5C%2Fs40519-021-01106-7%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222021-03-03T12%3A06%3A45Z%22%7D%7D%2C%7B%22key%22%3A%22BFMIKUPJ%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Moreira%20Fonseca%20et%20al.%22%2C%22parsedDate%22%3A%222020-02-01%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EMoreira%20Fonseca%2C%20N.%2C%20Cardoso%2C%20F.%2C%20Monteiro%2C%20M.%2C%20G%26%23xF3%3Bis%2C%20M.%2C%20Sousa%2C%20H.%2C%20Fidalgo%2C%20T.%2C%20Calado%2C%20J.%2C%20%26amp%3B%20Nolasco%2C%20F.%20%282020%29.%20A%20case%20of%20bortezomib-associated%20thrombotic%20microangiopathy%20in%20a%20multiple%20myeloma%20patient.%20%3Ci%3EJournal%20of%20Onco-Nephrology%3C%5C%2Fi%3E%2C%20%3Ci%3E4%3C%5C%2Fi%3E%281%26%23x2013%3B2%29%2C%2046%26%23x2013%3B51.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1177%5C%2F2399369319894343%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1177%5C%2F2399369319894343%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22A%20case%20of%20bortezomib-associated%20thrombotic%20microangiopathy%20in%20a%20multiple%20myeloma%20patient%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Nuno%22%2C%22lastName%22%3A%22Moreira%20Fonseca%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Filipa%22%2C%22lastName%22%3A%22Cardoso%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Manuel%22%2C%22lastName%22%3A%22Monteiro%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M%5Cu00e1rio%22%2C%22lastName%22%3A%22G%5Cu00f3is%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Helena%22%2C%22lastName%22%3A%22Sousa%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Teresa%22%2C%22lastName%22%3A%22Fidalgo%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Joaquim%22%2C%22lastName%22%3A%22Calado%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Fernando%22%2C%22lastName%22%3A%22Nolasco%22%7D%5D%2C%22abstractNote%22%3A%22Bortezomib%20is%20a%20first-generation%20proteasome%20inhibitor%20used%20in%20the%20treatment%20of%20multiple%20myeloma.%20We%20present%20a%20case%20of%20a%2070-year-old%20woman%20with%20multiple%20myeloma%2C%20who%20presented%20thrombotic%20microangiopathy%20with%20multi-organ%20involvement%20thrombotic%20microangiopathy%20%28ocular%2C%20cardiac%2C%20and%20renal%29%20after%20bortezomib%20initiation.%20A%20kidney%20biopsy%20confirmed%20the%20diagnosis%20of%20thrombotic%20microangiopathy.%20A%20temporal%20relation%20between%20bortezomib%20exposure%20and%20thrombotic%20microangiopathy%20onset%20was%20seen%20in%20the%20absence%20of%20other%20concurrent%20medication%20or%20disease%20known%20to%20cause%20thrombotic%20microangiopathy%2C%20and%20thrombotic%20microangiopathy%20was%20only%20resolved%20after%20drug%20discontinuation.%20The%20exact%20pathophysiological%20mechanism%20remains%20unknown.%20To%20our%20knowledge%2C%20this%20is%20the%20second%20biopsy-proven%20published%20case%20of%20bortezomib-associated%20thrombotic%20microangiopathy.%20Since%20bortezomib%20is%20extensively%20used%20for%20treating%20patients%20with%20multiple%20myeloma%2C%20prescribing%20clinicians%20should%20maintain%20a%20high%20index%20of%20suspicion%20of%20this%20potentially%20fatal%20complication.%22%2C%22date%22%3A%222020-02-01%22%2C%22language%22%3A%22en%22%2C%22DOI%22%3A%2210.1177%5C%2F2399369319894343%22%2C%22ISSN%22%3A%222399-3693%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1177%5C%2F2399369319894343%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222023-12-05T15%3A51%3A47Z%22%7D%7D%2C%7B%22key%22%3A%224HJQZULX%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Relvas%20et%20al.%22%2C%22parsedDate%22%3A%222020-01-01%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3ERelvas%2C%20M.%2C%20Tavares%2C%20I.%2C%20Fidalgo%2C%20T.%2C%20Mendon%26%23xE7%3Ba%2C%20L.%2C%20%26amp%3B%20Coentr%26%23xE3%3Bo%2C%20L.%20%282020%29.%20Reviewing%20thrombotic%20thrombocytopenic%20purpura%20diagnosis%20and%20treatment%20in%20a%20Portuguese%20hospital.%20%3Ci%3EEuropean%20Journal%20of%20Internal%20Medicine%3C%5C%2Fi%3E%2C%20%3Ci%3E71%3C%5C%2Fi%3E%2C%2095%26%23x2013%3B97.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1016%5C%2Fj.ejim.2019.11.004%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1016%5C%2Fj.ejim.2019.11.004%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Reviewing%20thrombotic%20thrombocytopenic%20purpura%20diagnosis%20and%20treatment%20in%20a%20Portuguese%20hospital%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Miguel%22%2C%22lastName%22%3A%22Relvas%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Isabel%22%2C%22lastName%22%3A%22Tavares%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Teresa%22%2C%22lastName%22%3A%22Fidalgo%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lu%5Cu00eds%22%2C%22lastName%22%3A%22Mendon%5Cu00e7a%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lu%5Cu00eds%22%2C%22lastName%22%3A%22Coentr%5Cu00e3o%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%222020-01-01%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%2210.1016%5C%2Fj.ejim.2019.11.004%22%2C%22ISSN%22%3A%220953-6205%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.sciencedirect.com%5C%2Fscience%5C%2Farticle%5C%2Fpii%5C%2FS0953620519303929%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222023-12-05T15%3A54%3A01Z%22%7D%7D%2C%7B%22key%22%3A%22DEQ9RJP7%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Manco%20et%20al.%22%2C%22parsedDate%22%3A%222020%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EManco%2C%20L.%2C%20Bento%2C%20C.%2C%20Relvas%2C%20L.%2C%20Cunha%2C%20E.%2C%20Pereira%2C%20J.%2C%20Moreira%2C%20V.%2C%20Alvarez%2C%20M.%2C%20Maia%2C%20T.%2C%20%26amp%3B%20Ribeiro%2C%20M.%20L.%20%282020%29.%20Multi-Locus%20Models%20to%20Address%20Hb%20F%20Variability%20in%20Portuguese%20%26%23x3B2%3B-Thalassemia%20Carriers.%20%3Ci%3EHemoglobin%20%26%23x2013%3B%20International%20Journal%20for%20Hemoglobin%20Research%3C%5C%2Fi%3E%2C%20%3Ci%3E44%3C%5C%2Fi%3E%282%29%2C%20113%26%23x2013%3B117.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1080%5C%2F03630269.2020.1753766%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1080%5C%2F03630269.2020.1753766%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Multi-Locus%20Models%20to%20Address%20Hb%20F%20Variability%20in%20Portuguese%20%5Cu03b2-Thalassemia%20Carriers%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22L.%22%2C%22lastName%22%3A%22Manco%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C.%22%2C%22lastName%22%3A%22Bento%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22L.%22%2C%22lastName%22%3A%22Relvas%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22E.%22%2C%22lastName%22%3A%22Cunha%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22J.%22%2C%22lastName%22%3A%22Pereira%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22V.%22%2C%22lastName%22%3A%22Moreira%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%22%2C%22lastName%22%3A%22Alvarez%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22T.%22%2C%22lastName%22%3A%22Maia%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.L.%22%2C%22lastName%22%3A%22Ribeiro%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%222020%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%2210.1080%5C%2F03630269.2020.1753766%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1080%5C%2F03630269.2020.1753766%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222021-07-23T10%3A05%3A27Z%22%7D%7D%2C%7B%22key%22%3A%22CT2TK8LM%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Manco%20et%20al.%22%2C%22parsedDate%22%3A%222020%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EManco%2C%20L.%2C%20Machado-Rodrigues%2C%20A.%20M.%2C%20%26amp%3B%20Padez%2C%20C.%20%282020%29.%20Association%20study%20of%20common%20functional%20genetic%20polymorphisms%20in%20SLC6A4%20%285-HTT%29%20and%20MAOA%20genes%20with%20obesity%20in%20portuguese%20children.%20%3Ci%3EArchives%20of%20Physiology%20and%20Biochemistry%3C%5C%2Fi%3E%2C%20%3Ci%3EEpub%3C%5C%2Fi%3E%28Jun%29%2C%201%26%23x2013%3B6.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1080%5C%2F13813455.2020.1779312%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1080%5C%2F13813455.2020.1779312%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Association%20study%20of%20common%20functional%20genetic%20polymorphisms%20in%20SLC6A4%20%285-HTT%29%20and%20MAOA%20genes%20with%20obesity%20in%20portuguese%20children%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22L.%22%2C%22lastName%22%3A%22Manco%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22A%20M%22%2C%22lastName%22%3A%22Machado-Rodrigues%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C.%22%2C%22lastName%22%3A%22Padez%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%222020%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%2210.1080%5C%2F13813455.2020.1779312%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1080%5C%2F13813455.2020.1779312%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22JCHR2C33%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222020-07-02T10%3A12%3A38Z%22%7D%7D%2C%7B%22key%22%3A%22PEYBW3CS%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Correia%20Dias%20et%20al.%22%2C%22parsedDate%22%3A%222020%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3ECorreia%20Dias%2C%20H.%2C%20Corte%20Real%2C%20F.%2C%20Cunha%2C%20E.%2C%20%26amp%3B%20Manco%2C%20L.%20%282020%29.%20DNA%20methylation%20age%20estimation%20from%20human%20bone%20and%20teeth.%20%3Ci%3EAustralian%20Journal%20of%20Forensic%20Sciences%3C%5C%2Fi%3E%2C%20%3Ci%3E%5BEpub%5D%3C%5C%2Fi%3E.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1080%5C%2F00450618.2020.1805011%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1080%5C%2F00450618.2020.1805011%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22DNA%20methylation%20age%20estimation%20from%20human%20bone%20and%20teeth%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22H.%22%2C%22lastName%22%3A%22Correia%20Dias%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22F%22%2C%22lastName%22%3A%22Corte%20Real%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22E.%22%2C%22lastName%22%3A%22Cunha%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22L.%22%2C%22lastName%22%3A%22Manco%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%222020%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%2210.1080%5C%2F00450618.2020.1805011%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1080%5C%2F00450618.2020.1805011%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222020-08-18T11%3A31%3A38Z%22%7D%7D%2C%7B%22key%22%3A%223LJKZMP2%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Correia%20Dias%20et%20al.%22%2C%22parsedDate%22%3A%222020%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3ECorreia%20Dias%2C%20H.%2C%20Cunha%2C%20E.%2C%20Corte%20Real%2C%20F.%2C%20%26amp%3B%20Manco%2C%20L.%20%282020%29.%20Age%20prediction%20in%20living%3A%20Forensic%20epigenetic%20age%20estimation%20based%20on%20blood%20samples.%20%3Ci%3ELegal%20Medicine%3C%5C%2Fi%3E%2C%20%3Ci%3E47%3C%5C%2Fi%3E%2C%20101763.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1016%5C%2Fj.legalmed.2020.101763%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1016%5C%2Fj.legalmed.2020.101763%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Age%20prediction%20in%20living%3A%20Forensic%20epigenetic%20age%20estimation%20based%20on%20blood%20samples%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22H.%22%2C%22lastName%22%3A%22Correia%20Dias%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22E.%22%2C%22lastName%22%3A%22Cunha%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22F%22%2C%22lastName%22%3A%22Corte%20Real%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22L.%22%2C%22lastName%22%3A%22Manco%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%222020%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%2210.1016%5C%2Fj.legalmed.2020.101763%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1016%5C%2Fj.legalmed.2020.101763%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222020-07-27T09%3A39%3A35Z%22%7D%7D%2C%7B%22key%22%3A%22NEKPCYH7%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Correia%20Dias%20et%20al.%22%2C%22parsedDate%22%3A%222020%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3ECorreia%20Dias%2C%20H.%2C%20Cordeiro%2C%20C.%2C%20Pereira%2C%20J.%2C%20Pinto%2C%20C.%2C%20Real%2C%20F.%20C.%2C%20Cunha%2C%20E.%2C%20%26amp%3B%20Manco%2C%20L.%20%282020%29.%20DNA%20methylation%20age%20estimation%20in%20blood%20samples%20of%20living%20and%20deceased%20individuals%20using%20a%20multiplex%20SNaPshot%20assay.%20%3Ci%3EForensic%20Science%20International%3C%5C%2Fi%3E%2C%20%3Ci%3E311%3C%5C%2Fi%3E%2C%20110267.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1016%5C%2Fj.forsciint.2020.110267%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1016%5C%2Fj.forsciint.2020.110267%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22DNA%20methylation%20age%20estimation%20in%20blood%20samples%20of%20living%20and%20deceased%20individuals%20using%20a%20multiplex%20SNaPshot%20assay%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22H.%22%2C%22lastName%22%3A%22Correia%20Dias%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C.%22%2C%22lastName%22%3A%22Cordeiro%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22J.%22%2C%22lastName%22%3A%22Pereira%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C.%22%2C%22lastName%22%3A%22Pinto%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22F.%20C.%22%2C%22lastName%22%3A%22Real%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22E.%22%2C%22lastName%22%3A%22Cunha%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22L.%22%2C%22lastName%22%3A%22Manco%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%222020%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%2210.1016%5C%2Fj.forsciint.2020.110267%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1016%5C%2Fj.forsciint.2020.110267%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222020-07-02T10%3A10%3A35Z%22%7D%7D%2C%7B%22key%22%3A%22SCDJWPZB%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Correia%20Dias%20et%20al.%22%2C%22parsedDate%22%3A%222020%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3ECorreia%20Dias%2C%20H.%2C%20Cordeiro%2C%20C.%2C%20Real%2C%20F.%20C.%2C%20Cunha%2C%20E.%2C%20%26amp%3B%20Manco%2C%20L.%20%282020%29.%20Age%20Estimation%20Based%20on%20DNA%20Methylation%20Using%20Blood%20Samples%20From%20Deceased%20Individuals.%20%3Ci%3EJournal%20of%20Forensic%20Sciences%3C%5C%2Fi%3E%2C%20%3Ci%3E65%3C%5C%2Fi%3E%282%29%2C%20465%26%23x2013%3B470.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1111%5C%2F1556-4029.14185%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1111%5C%2F1556-4029.14185%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Age%20Estimation%20Based%20on%20DNA%20Methylation%20Using%20Blood%20Samples%20From%20Deceased%20Individuals%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22H.%22%2C%22lastName%22%3A%22Correia%20Dias%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C.%22%2C%22lastName%22%3A%22Cordeiro%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22F.%20C.%22%2C%22lastName%22%3A%22Real%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22E.%22%2C%22lastName%22%3A%22Cunha%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22L.%22%2C%22lastName%22%3A%22Manco%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%222020%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%2210.1111%5C%2F1556-4029.14185%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1111%5C%2F1556-4029.14185%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222020-07-02T10%3A10%3A24Z%22%7D%7D%2C%7B%22key%22%3A%22ADQTXMBJ%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Michiels%20et%20al.%22%2C%22parsedDate%22%3A%222019%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EMichiels%2C%20J.%20J.%2C%20Hansen%2C%20D.%20F.%2C%20Smejkal%2C%20P.%2C%20Fidalgo%2C%20T.%2C%20Battle%2C%20F.%20J.%2C%20Blatny%2C%20J.%2C%20Penka%2C%20M.%2C%20Batorova%2C%20A.%2C%20Prigancova%2C%20T.%2C%20Budde%2C%20U.%2C%20Vangenechten%2C%20I.%2C%20%26amp%3B%20Gadisseur%2C%20A.%20%282019%29.%20Molecular%20Etiology%20and%20Laboratory%20Phenotypes%20of%20Recessive%20Von%20Willebrand%20Disease%202N%20Due%20to%20Mutations%20in%20the%20D%26%23x2019%3BD3%20Factor%20VIII-Binding%20Domain%20of%20the%20Von%20Willebrand%20Factor%20Gene%3A%20A%20Critical%20Appraisal%20of%20the%20Literature%20and%20Personal%20Experiences.%20%3Ci%3EActa%20Scientific%20Medical%20Sciences%3C%5C%2Fi%3E%2C%20%3Ci%3E3%3C%5C%2Fi%3E%2812%29.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2Fhttp%3A%5C%2F%5C%2Fdx.doi.org%5C%2F10.31080%5C%2Fasms.2019.03.0483%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2Fhttp%3A%5C%2F%5C%2Fdx.doi.org%5C%2F10.31080%5C%2Fasms.2019.03.0483%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Molecular%20Etiology%20and%20Laboratory%20Phenotypes%20of%20Recessive%20Von%20Willebrand%20Disease%202N%20Due%20to%20Mutations%20in%20the%20D%5Cu2019D3%20Factor%20VIII-Binding%20Domain%20of%20the%20Von%20Willebrand%20Factor%20Gene%3A%20A%20Critical%20Appraisal%20of%20the%20Literature%20and%20Personal%20Experiences%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jan%20Jacques%22%2C%22lastName%22%3A%22Michiels%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22D.%20Flemming%22%2C%22lastName%22%3A%22Hansen%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Petr%22%2C%22lastName%22%3A%22Smejkal%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Tereza%22%2C%22lastName%22%3A%22Fidalgo%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Francisco%20Javier%22%2C%22lastName%22%3A%22Battle%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jan%22%2C%22lastName%22%3A%22Blatny%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Miroslav%22%2C%22lastName%22%3A%22Penka%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Angelika%22%2C%22lastName%22%3A%22Batorova%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Tatiana%22%2C%22lastName%22%3A%22Prigancova%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Ulrich%22%2C%22lastName%22%3A%22Budde%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Inge%22%2C%22lastName%22%3A%22Vangenechten%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Alain%22%2C%22lastName%22%3A%22Gadisseur%22%7D%5D%2C%22abstractNote%22%3A%22The%20FVIII%20binding%20site%20on%20von%20Willebrand%20factor%20%28VWF%29%20is%20located%20in%20the%20D%5Cu2019%20%28766-864%29%20and%20D3%20%281054-1060%29%20regions%20of%20the%20VWF%20gene.%20The%20cysteine%20residues%20in%20the%20D%5Cu2019%20domain%20form%20disulfide%20bridges%20within%20the%20D%5Cu2019%20trypsin-inhibitor-like%20%28TIL%5Cu2019%29%20and%20E%5Cu2019%20regions%2Cand%20these%20are%20of%20critically%20importance%20for%20the%20binding%20between%20TIL%5Cu2019E%5Cu2019%20and%20FVIII.%20We%20analyzed%20the%20molecular%20etiology%20and%20laboratory%20phenotype%20of%20von%20Willebrand%20disease%20%28VWD%29%202N%20patients%20reported%20in%20the%20literature%20and%20added%20personal%20experiences%20from%20three%20European%20VWF%20VWD%20Research%20Centers.%22%2C%22date%22%3A%222019%22%2C%22language%22%3A%22en%22%2C%22DOI%22%3A%22http%3A%5C%2F%5C%2Fdx.doi.org%5C%2F10.31080%5C%2Fasms.2019.03.0483%22%2C%22ISSN%22%3A%222582-0931%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.muni.cz%5C%2Fen%5C%2Fresearch%5C%2Fpublications%5C%2F1591398%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222023-12-05T15%3A53%3A29Z%22%7D%7D%2C%7B%22key%22%3A%22RJ8MCETE%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Mutlu%20et%20al.%22%2C%22parsedDate%22%3A%222019%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EMutlu%2C%20B.%2C%20Keskin%2C%20E.%20Y.%2C%20Oliveira%2C%20A.%2C%20Relvas%2C%20L.%2C%20%26amp%3B%20Bento%2C%20C.%20%282019%29.%20A%20Rare%20Cause%20of%20Cyanosis%20Since%20Birth%3A%20Hb%20M-Iwate.%20%3Ci%3ETurkish%20Journal%20of%20Haematology%3C%5C%2Fi%3E%2C%20%3Ci%3E36%3C%5C%2Fi%3E%284%29%2C%20299%26%23x2013%3B301.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.4274%5C%2Ftjh.galenos.2019.2019.0123%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.4274%5C%2Ftjh.galenos.2019.2019.0123%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22A%20Rare%20Cause%20of%20Cyanosis%20Since%20Birth%3A%20Hb%20M-Iwate%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22B%22%2C%22lastName%22%3A%22Mutlu%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Ebru%20Y%5Cu0131lmaz%22%2C%22lastName%22%3A%22Keskin%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22AC%22%2C%22lastName%22%3A%22Oliveira%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22L.%22%2C%22lastName%22%3A%22Relvas%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C.%22%2C%22lastName%22%3A%22Bento%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%222019%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%2210.4274%5C%2Ftjh.galenos.2019.2019.0123%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.journalagent.com%5C%2Ftjh%5C%2Fpdfs%5C%2FTJH_36_4_299_301.pdf%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222020-07-02T15%3A24%3A54Z%22%7D%7D%2C%7B%22key%22%3A%22EYDVJBSF%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Palmeira%20et%20al.%22%2C%22parsedDate%22%3A%222019%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EPalmeira%2C%20L.%2C%20Cunha%2C%20M.%2C%20Padez%2C%20C.%2C%20Alvarez%2C%20M.%2C%20Pinto-Gouveia%2C%20J.%2C%20%26amp%3B%20Manco%2C%20L.%20%282019%29.%20Association%20study%20of%20variants%20in%20genes%20FTO%2C%20SLC6A4%2C%20DRD2%2C%20BDNF%20and%20GHRL%20with%20binge%20eating%20disorder%20%28BED%29%20in%20Portuguese%20women.%20%3Ci%3EPsychiatry%20Research%3C%5C%2Fi%3E%2C%20%3Ci%3E273%3C%5C%2Fi%3E%2C%20309%26%23x2013%3B311.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1016%5C%2Fj.psychres.2019.01.047%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1016%5C%2Fj.psychres.2019.01.047%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Association%20study%20of%20variants%20in%20genes%20FTO%2C%20SLC6A4%2C%20DRD2%2C%20BDNF%20and%20GHRL%20with%20binge%20eating%20disorder%20%28BED%29%20in%20Portuguese%20women%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22L.%22%2C%22lastName%22%3A%22Palmeira%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%22%2C%22lastName%22%3A%22Cunha%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C.%22%2C%22lastName%22%3A%22Padez%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%22%2C%22lastName%22%3A%22Alvarez%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22J.%22%2C%22lastName%22%3A%22Pinto-Gouveia%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22L.%22%2C%22lastName%22%3A%22Manco%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%222019%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%2210.1016%5C%2Fj.psychres.2019.01.047%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1016%5C%2Fj.psychres.2019.01.047%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22JCHR2C33%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222020-07-13T14%3A59%3A20Z%22%7D%7D%2C%7B%22key%22%3A%22IDJT7FLX%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Marini%20et%20al.%22%2C%22parsedDate%22%3A%222019%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EMarini%2C%20S.%20C.%2C%20Carda%2C%20P.%2C%20Guilherme%2C%20R.%2C%20Pinto%2C%20C.%20S.%2C%20Fidalgo%2C%20T.%2C%20%26amp%3B%20Ribeiro%2C%20M.%20L.%20%282019%29.%20Atypical%20hemolytic%20%26%23x2013%3B%20uremic%20syndrome%26%23x202F%3B%3A%20recurrent%20phenotypic%20expression%20of%20a%20patient%20with%20MCP%20gene%20mutation%20combined%20with%20risk%20haplotypes.%20%3Ci%3EBLOOD%20COAGULATION%20%26amp%3B%20FIBRINOLYSIS%3C%5C%2Fi%3E%2C%20%3Ci%3E30%3C%5C%2Fi%3E%282%29%2C%2068%26%23x2013%3B70.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1097%5C%2FMBC.0000000000000793%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1097%5C%2FMBC.0000000000000793%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Atypical%20hemolytic%20%5Cu2013%20uremic%20syndrome%5Cu202f%3A%20recurrent%20phenotypic%20expression%20of%20a%20patient%20with%20MCP%20gene%20mutation%20combined%20with%20risk%20haplotypes%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22S.%20C.%22%2C%22lastName%22%3A%22Marini%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22P.%22%2C%22lastName%22%3A%22Carda%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22R.%22%2C%22lastName%22%3A%22Guilherme%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C.%20S.%22%2C%22lastName%22%3A%22Pinto%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22T.%22%2C%22lastName%22%3A%22Fidalgo%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%20L.%22%2C%22lastName%22%3A%22Ribeiro%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%222019%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%2210.1097%5C%2FMBC.0000000000000793%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fjournals.lww.com%5C%2Fbloodcoagulation%5C%2FAbstract%5C%2F2019%5C%2F03000%5C%2FAtypical_hemolytic_uremic_syndrome__recurrent.4.aspx%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222020-07-13T14%3A56%3A07Z%22%7D%7D%2C%7B%22key%22%3A%2233SUM4P3%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Manco%20et%20al.%22%2C%22parsedDate%22%3A%222019%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EManco%2C%20L.%2C%20Pinho%2C%20S.%2C%20Albuquerque%2C%20D.%2C%20Machado-Rodrigues%2C%20A.%20M.%2C%20%26amp%3B%20Padez%2C%20C.%20%282019%29.%20Physical%20activity%20and%20the%20association%20between%20the%20FTO%20rs9939609%20polymorphism%20and%20obesity%20in%20Portuguese%20children%20aged%203%20to%2011%20years.%20%3Ci%3EAmerican%20Journal%20of%20Human%20Biology%3C%5C%2Fi%3E%2C%20%3Ci%3E31%3C%5C%2Fi%3E%28%5BEpub%20ahead%20of%20print%5D%29%2C%20e23312.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1002%5C%2Fajhb.23312%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1002%5C%2Fajhb.23312%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Physical%20activity%20and%20the%20association%20between%20the%20FTO%20rs9939609%20polymorphism%20and%20obesity%20in%20Portuguese%20children%20aged%203%20to%2011%20years%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22L.%22%2C%22lastName%22%3A%22Manco%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22S.%22%2C%22lastName%22%3A%22Pinho%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22D.%22%2C%22lastName%22%3A%22Albuquerque%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22A.%20M.%22%2C%22lastName%22%3A%22Machado-Rodrigues%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C.%22%2C%22lastName%22%3A%22Padez%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%222019%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%2210.1002%5C%2Fajhb.23312%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fonlinelibrary.wiley.com%5C%2Fdoi%5C%2Ffull%5C%2F10.1002%5C%2Fajhb.23312%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22JCHR2C33%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222020-07-13T14%3A54%3A09Z%22%7D%7D%2C%7B%22key%22%3A%22IWITGQSJ%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Borr%5Cu00e0s%20and%20%5B...%5D%20%26%20Fidalgo%22%2C%22parsedDate%22%3A%222019%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EBorr%26%23xE0%3Bs%2C%20N.%2C%20%26amp%3B%20%5B...%5D%20%26amp%3B%20Fidalgo%2C%20T.%20%282019%29.%20Unraveling%20the%20effect%20of%20silent%2C%20intronic%20and%20missense%20mutations%20on%20VWF%20splicing%3A%20contribution%20of%20next%20generation%20sequencing%20in%20the%20study%20of%20mRNA.%20%3Ci%3EHaematologica%3C%5C%2Fi%3E%2C%20%3Ci%3E104%3C%5C%2Fi%3E%283%29%2C%20587%26%23x2013%3B598.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.3324%5C%2Fhaematol.2018.203166%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.3324%5C%2Fhaematol.2018.203166%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Unraveling%20the%20effect%20of%20silent%2C%20intronic%20and%20missense%20mutations%20on%20VWF%20splicing%3A%20contribution%20of%20next%20generation%20sequencing%20in%20the%20study%20of%20mRNA%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22N.%22%2C%22lastName%22%3A%22Borr%5Cu00e0s%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22T.%22%2C%22lastName%22%3A%22%5B...%5D%20%26%20Fidalgo%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%222019%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%2210.3324%5C%2Fhaematol.2018.203166%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Fwww.haematologica.org%5C%2Fcontent%5C%2F104%5C%2F3%5C%2F587%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222020-07-13T14%3A43%3A30Z%22%7D%7D%2C%7B%22key%22%3A%229TVTQFKG%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Gimeno-Ferrer%20et%20al.%22%2C%22parsedDate%22%3A%222019%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EGimeno-Ferrer%2C%20F.%2C%20Albuquerque%2C%20D.%2C%20Banacloy%2C%20A.%20G.%2C%20Luj%26%23xE1%3Bn%2C%20C.%20G.%2C%20Benito%2C%20G.%20M.%2C%20Juan%2C%20C.%20S.%2C%20Esteban%2C%20M.%20B.%2C%20%26amp%3B%20Rodr%26%23xED%3Bguez-L%26%23xF3%3Bpez%2C%20R.%20%282019%29.%20Genetic%20screening%20for%20MC4R%20gene%20identifies%20three%20novel%20mutations%20associated%20with%20severe%20familiar%20obesity%20in%20a%20cohort%20of%20Spanish%20individuals.%20%3Ci%3EGene%3C%5C%2Fi%3E%2C%20%3Ci%3EApril%3C%5C%2Fi%3E%28%5BIn%20press%5D%29.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1016%5C%2Fj.gene.2019.04.018%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1016%5C%2Fj.gene.2019.04.018%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Genetic%20screening%20for%20MC4R%20gene%20identifies%20three%20novel%20mutations%20associated%20with%20severe%20familiar%20obesity%20in%20a%20cohort%20of%20Spanish%20individuals%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22F.%22%2C%22lastName%22%3A%22Gimeno-Ferrer%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22D.%22%2C%22lastName%22%3A%22Albuquerque%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22A.%20G.%22%2C%22lastName%22%3A%22Banacloy%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C.%20G.%22%2C%22lastName%22%3A%22Luj%5Cu00e1n%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22G.%20M.%22%2C%22lastName%22%3A%22Benito%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C.%20S.%22%2C%22lastName%22%3A%22Juan%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%20B.%22%2C%22lastName%22%3A%22Esteban%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22R.%22%2C%22lastName%22%3A%22Rodr%5Cu00edguez-L%5Cu00f3pez%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%222019%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%2210.1016%5C%2Fj.gene.2019.04.018%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.sciencedirect.com%5C%2Fscience%5C%2Farticle%5C%2Fpii%5C%2FS0378111919303646%3Fvia%253Dihub%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222019-04-15T09%3A05%3A46Z%22%7D%7D%2C%7B%22key%22%3A%22Y6CBAVFE%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Gimeno-Ferrer%20et%20al.%22%2C%22parsedDate%22%3A%222019%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EGimeno-Ferrer%2C%20F.%2C%20Albuquerque%2C%20D.%2C%20Luj%26%23xE1%3Bn%2C%20C.%20G.%2C%20Benito%2C%20G.%20M.%2C%20Banzas%2C%20C.%20T.%2C%20Rep%26%23xE1%3Braz-Andrade%2C%20A.%2C%20Cogollos%2C%20V.%20B.%2C%20P%26%23xE9%3Brez-Gramunt%2C%20M.%20A.%2C%20G%26%23xF3%3Bmez%2C%20E.%20G.%2C%20Quintela%2C%20I.%2C%20%26amp%3B%20Rodr%26%23xED%3Bguez-L%26%23xF3%3Bpez%2C%20R.%20%282019%29.%20The%20effect%20of%20copy%20number%20variations%20in%20chromosome%2016p%20on%20body%20weight%20in%20patients%20with%20intellectual%20disability.%20%3Ci%3EJournal%20of%20Human%20Genetics%3C%5C%2Fi%3E%2C%20%3Ci%3E64%3C%5C%2Fi%3E%283%29%2C%20221%26%23x2013%3B231.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1038%5C%2Fs10038-018-0545-5%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1038%5C%2Fs10038-018-0545-5%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22The%20effect%20of%20copy%20number%20variations%20in%20chromosome%2016p%20on%20body%20weight%20in%20patients%20with%20intellectual%20disability%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22F.%22%2C%22lastName%22%3A%22Gimeno-Ferrer%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22D.%22%2C%22lastName%22%3A%22Albuquerque%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C.%20G.%22%2C%22lastName%22%3A%22Luj%5Cu00e1n%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22G.%20M.%22%2C%22lastName%22%3A%22Benito%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C.%20T.%22%2C%22lastName%22%3A%22Banzas%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22A.%22%2C%22lastName%22%3A%22Rep%5Cu00e1raz-Andrade%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22V.%20B.%22%2C%22lastName%22%3A%22Cogollos%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%20A.%22%2C%22lastName%22%3A%22P%5Cu00e9rez-Gramunt%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22E.%20G.%22%2C%22lastName%22%3A%22G%5Cu00f3mez%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22I.%22%2C%22lastName%22%3A%22Quintela%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22R.%22%2C%22lastName%22%3A%22Rodr%5Cu00edguez-L%5Cu00f3pez%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%222019%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%2210.1038%5C%2Fs10038-018-0545-5%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1038%5C%2Fs10038-018-0545-5%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222019-05-08T15%3A39%3A20Z%22%7D%7D%2C%7B%22key%22%3A%22TTFHTZME%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Albuquerque%20et%20al.%22%2C%22parsedDate%22%3A%222018-09-01%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EAlbuquerque%2C%20D.%2C%20Gonz%26%23xE1%3Blez%2C%20L.%20M.%2C%20Ferrer%2C%20F.%20G.%2C%20Bruna%2C%20M.%2C%20S%26%23xE1%3Bnchez%2C%20C.%2C%20Benito%2C%20G.%20M.%2C%20Rodr%26%23xED%3Bguez-L%26%23xF3%3Bpez%2C%20R.%2C%20%26amp%3B%20Manco%2C%20L.%20%282018%29.%20Association%20study%20of%20six%20single%20nucleotide%20polymorphisms%20with%20obesity%20in%20two%20independent%20Iberian%20samples.%20%3Ci%3EMeta%20Gene%3C%5C%2Fi%3E%2C%20%3Ci%3E17%3C%5C%2Fi%3E%2C%2017%26%23x2013%3B22.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1016%5C%2Fj.mgene.2018.04.006%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1016%5C%2Fj.mgene.2018.04.006%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Association%20study%20of%20six%20single%20nucleotide%20polymorphisms%20with%20obesity%20in%20two%20independent%20Iberian%20samples%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22David%22%2C%22lastName%22%3A%22Albuquerque%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Luz%20Maria%22%2C%22lastName%22%3A%22Gonz%5Cu00e1lez%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22F%5Cu00e1tima%20Gimeno%22%2C%22lastName%22%3A%22Ferrer%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Marcos%22%2C%22lastName%22%3A%22Bruna%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Carlos%22%2C%22lastName%22%3A%22S%5Cu00e1nchez%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Goitzane%20Marcaida%22%2C%22lastName%22%3A%22Benito%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Raquel%22%2C%22lastName%22%3A%22Rodr%5Cu00edguez-L%5Cu00f3pez%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lic%5Cu00ednio%22%2C%22lastName%22%3A%22Manco%22%7D%5D%2C%22abstractNote%22%3A%22Several%20BMI%20associated-loci%20conferring%20susceptibility%20to%20obesity%20have%20been%20identified.%20Summarizing%20all%20these%20risk-associated%20variations%20into%20a%20genetic%20risk-score%20%28GRS%29%20may%20improve%20predictive%20power%20and%20cumulative%20effect%20on%20obesity%20risk.%20In%20this%20study%2C%20we%20investigate%20the%20reproducibility%20in%20two%20independent%20samples%20of%20the%20association%20and%20weighted%20GRS%20previously%20proposed%20for%20six%20SNPs%20as%20predictors%20for%20obesity%20susceptibility.%20A%20case-control%20study%20was%20performed%20using%20one%20sample%20comprising%20346%20unrelated%20Portuguese%20children%20%5B6%5Cu201312%5Cu202fyears-old%3B%20191%20controls%20and%20155%20obese%5D%2C%20and%20a%20second%20sample%20comprising%20332%20unrelated%20Spanish%20adults%20%5B18%5Cu201360%5Cu202fyears-old%3B%20217%20controls%20and%20115%20obese%5D.%20Polymorphisms%20located%20on%20FTO%2C%20TFAP2B%2C%20SEC16B%2C%20ETV5%2C%20and%20SH2B1%20genes%20were%20genotyped%20by%20allelic%20discrimination%20TaqMan%20assays.%20After%20Bonferroni%20corrections%20we%20found%20nominal%20significant%20associations%20of%20the%20rs17817449%20FTO%20polymorphism%20with%20BMI%20%28p%5Cu202f%3D%5Cu202f0.023%29%2C%20Z-score%20%28p%5Cu202f%3D%5Cu202f0.009%29%2C%20weight%20%28p%5Cu202f%3D%5Cu202f0.020%29%2C%20and%20waist%20circumference%20%28p%5Cu202f%3D%5Cu202f0.022%29%20in%20the%20Portuguese%20children.%20A%20nominal%20association%20was%20also%20observed%20with%20risk%20of%20obesity%20%28p%5Cu202f%3D%5Cu202f0.027%29.%20The%20same%20polymorphism%20was%20found%20significantly%20associated%20with%20obesity%20%28p%5Cu202f%3D%5Cu202f0.0005%29%20in%20Spanish%20adults.%20Nominal%20association%20with%20risk%20of%20obesity%20was%20also%20found%20for%20rs7634510%20ETV5%20polymorphism%20%28p%5Cu202f%3D%5Cu202f0.011%29.%20No%20further%20associations%20were%20observed%20for%20the%20other%20polymorphisms.%20Our%20results%20failed%20to%20replicate%20a%20previously%20proposed%20GRS%20predicting%20high%20susceptibility%20to%20childhood%20obesity.%20Nonetheless%2C%20we%20highlight%20the%20role%20of%20the%20rs17817449%20FTO%20polymorphism%20on%20obesity%20in%20both%20Portuguese%20and%20Spanish%20samples%2C%20as%20well%20as%20the%20rs7634510%20ETV5%20polymorphism%20in%20adults.%22%2C%22date%22%3A%222018-09-01%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%2210.1016%5C%2Fj.mgene.2018.04.006%22%2C%22ISSN%22%3A%222214-5400%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.sciencedirect.com%5C%2Fscience%5C%2Farticle%5C%2Fpii%5C%2FS221454001830046X%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222023-12-05T14%3A18%3A31Z%22%7D%7D%2C%7B%22key%22%3A%229XEX6P9M%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Navarro%20et%20al.%22%2C%22parsedDate%22%3A%222018%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3ENavarro%2C%20D.%2C%20Azevedo%2C%20A.%2C%20Sequeira%2C%20S.%2C%20Ferreira%2C%20A.%2C%20Carvalho%2C%20F.%2C%20Fidalgo%2C%20T.%2C%20Vilarinho%2C%20L.%2C%20Santos%2C%20M.%2C%20Calado%2C%20J.%2C%20%26amp%3B%20Nolasco%2C%20F.%20%282018%29.%20Atypical%20adult-onset%20methylmalonic%20acidemia%20and%20homocystinuria%20presenting%20as%20hemolytic%20uremic%20syndrome.%20%3Ci%3ECEN%20Case%20Reports%3C%5C%2Fi%3E%2C%20%3Ci%3E7%3C%5C%2Fi%3E%281%29%2C%2073%26%23x2013%3B76.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1007%5C%2Fs13730-017-0298-6%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1007%5C%2Fs13730-017-0298-6%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Atypical%20adult-onset%20methylmalonic%20acidemia%20and%20homocystinuria%20presenting%20as%20hemolytic%20uremic%20syndrome%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22D%22%2C%22lastName%22%3A%22Navarro%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22A%22%2C%22lastName%22%3A%22Azevedo%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22S%22%2C%22lastName%22%3A%22Sequeira%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22AC%22%2C%22lastName%22%3A%22Ferreira%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22F%22%2C%22lastName%22%3A%22Carvalho%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22T%22%2C%22lastName%22%3A%22Fidalgo%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22L%22%2C%22lastName%22%3A%22Vilarinho%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22MC%22%2C%22lastName%22%3A%22Santos%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22J%22%2C%22lastName%22%3A%22Calado%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22F%22%2C%22lastName%22%3A%22Nolasco%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%222018%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%2210.1007%5C%2Fs13730-017-0298-6%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22VFTBIIDW%22%2C%22B7CF8TMG%22%2C%22V3455XI6%22%5D%2C%22dateModified%22%3A%222018-07-23T15%3A46%3A13Z%22%7D%7D%2C%7B%22key%22%3A%227K3UW8EB%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Azevedo%20et%20al.%22%2C%22parsedDate%22%3A%222018%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EAzevedo%2C%20A.%2C%20Faria%2C%20B.%2C%20Teixeira%2C%20C.%2C%20Carvalho%2C%20F.%2C%20Neto%2C%20G.%2C%20Santos%2C%20J.%2C%20Santos%2C%20M.%20C.%2C%20Oliveira%2C%20N.%2C%20Fidalgo%2C%20T.%2C%20%26amp%3B%20Calado%2C%20J.%20%282018%29.%20Portuguese%20Consensus%20Document%20Statement%20in%20diagnostic%20and%20management%20of%20atypical%20hemolytic%20uremic%20syndrome.%20%3Ci%3EPort%20J%20Nephrol%20Hypertens%3C%5C%2Fi%3E%2C%20%3Ci%3E32%3C%5C%2Fi%3E%2C%20211%26%23x2013%3B232.%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Portuguese%20Consensus%20Document%20Statement%20in%20diagnostic%20and%20management%20of%20atypical%20hemolytic%20uremic%20syndrome%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22A.%22%2C%22lastName%22%3A%22Azevedo%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22B.%22%2C%22lastName%22%3A%22Faria%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C.%22%2C%22lastName%22%3A%22Teixeira%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22F.%22%2C%22lastName%22%3A%22Carvalho%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22G.%22%2C%22lastName%22%3A%22Neto%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22J.%22%2C%22lastName%22%3A%22Santos%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%20C.%22%2C%22lastName%22%3A%22Santos%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22N.%22%2C%22lastName%22%3A%22Oliveira%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22T.%22%2C%22lastName%22%3A%22Fidalgo%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22J%22%2C%22lastName%22%3A%22Calado%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%222018%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%22%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222019-02-04T14%3A19%3A33Z%22%7D%7D%2C%7B%22key%22%3A%226JUPT9TR%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Gimeno-Ferrer%20et%20al.%22%2C%22parsedDate%22%3A%222018%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EGimeno-Ferrer%2C%20F.%2C%20Albuquerque%2C%20D.%2C%20Ledesma%2C%20M.%2C%20Monz%26%23xF3%3B%2C%20C.%2C%20Gervasini%2C%20G.%2C%20Angueira%2C%20F.%2C%20Carbonell%2C%20J.%2C%20Benito%2C%20G.%2C%20Rodr%26%23xED%3Bguez-L%26%23xF3%3Bpez%2C%20R.%2C%20%26amp%3B%20G%26%23xF3%3Bmez%2C%20E.%20%282018%29.%20Molecular%20characterization%20of%20the%20coexistence%20of%2018q%20haploinsufficiency%20and%2018p%20duplication%2C%20causal%20of%20a%20complex%20syndromic%20phenotype.%20%3Ci%3EGen%26%23xE9%3Btica%20M%26%23xE9%3Bdica%20y%20Gen%26%23xF3%3Bmica%3C%5C%2Fi%3E%2C%20%3Ci%3E%5BEpub%5D%3C%5C%2Fi%3E.%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Molecular%20characterization%20of%20the%20coexistence%20of%2018q%20haploinsufficiency%20and%2018p%20duplication%2C%20causal%20of%20a%20complex%20syndromic%20phenotype%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22F%22%2C%22lastName%22%3A%22Gimeno-Ferrer%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22D%22%2C%22lastName%22%3A%22Albuquerque%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22MC%22%2C%22lastName%22%3A%22Ledesma%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C%22%2C%22lastName%22%3A%22Monz%5Cu00f3%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22G%22%2C%22lastName%22%3A%22Gervasini%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22FB%22%2C%22lastName%22%3A%22Angueira%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22JM%22%2C%22lastName%22%3A%22Carbonell%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22GM%22%2C%22lastName%22%3A%22Benito%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22R%22%2C%22lastName%22%3A%22Rodr%5Cu00edguez-L%5Cu00f3pez%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22EG%22%2C%22lastName%22%3A%22G%5Cu00f3mez%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%222018%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%22%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222018-07-23T11%3A37%3A07Z%22%7D%7D%2C%7B%22key%22%3A%22V82DT6NZ%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Coelho%20et%20al.%22%2C%22parsedDate%22%3A%222018%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3ECoelho%2C%20S.%2C%20Fernandes%2C%20A.%2C%20Soares%2C%20E.%2C%20Val%26%23xE9%3Brio%2C%20P.%2C%20Matos%2C%20B.%2C%20Rom%26%23xE3%3Bo%2C%20H.%2C%20G%26%23xF3%3Bis%2C%20M.%2C%20Sousa%2C%20H.%2C%20Fidalgo%2C%20T.%2C%20Nat%26%23xE1%3Brio%2C%20A.%2C%20%26amp%3B%20Barreto%2C%20C.%20%282018%29.%20A%20new%20complement%20factor%20B%20mutation%20associated%20with%20crescentic%20C3%20glomerulopathy%3B%20a%20case%20report.%20%3Ci%3EJournal%20of%20Nephropathology%3C%5C%2Fi%3E%2C%20%3Ci%3E7%3C%5C%2Fi%3E%28%5BEpub%5D%29.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.15171%5C%2Fjnp.2018.xx%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.15171%5C%2Fjnp.2018.xx%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22A%20new%20complement%20factor%20B%20mutation%20associated%20with%20crescentic%20C3%20glomerulopathy%3B%20a%20case%20report%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22SS%22%2C%22lastName%22%3A%22Coelho%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22AR%22%2C%22lastName%22%3A%22Fernandes%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22E%22%2C%22lastName%22%3A%22Soares%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22P%22%2C%22lastName%22%3A%22Val%5Cu00e9rio%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22B%22%2C%22lastName%22%3A%22Matos%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22H%22%2C%22lastName%22%3A%22Rom%5Cu00e3o%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M%22%2C%22lastName%22%3A%22G%5Cu00f3is%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22H%22%2C%22lastName%22%3A%22Sousa%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22T%22%2C%22lastName%22%3A%22Fidalgo%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22AS%22%2C%22lastName%22%3A%22Nat%5Cu00e1rio%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C%22%2C%22lastName%22%3A%22Barreto%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%222018%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%2210.15171%5C%2Fjnp.2018.xx%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222018-07-23T15%3A55%3A37Z%22%7D%7D%2C%7B%22key%22%3A%22DZY6LSUX%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Barradas%20et%20al.%22%2C%22parsedDate%22%3A%222018%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EBarradas%2C%20J.%2C%20Rodrigues%2C%20C.%2C%20Ferreira%2C%20G.%2C%20Rocha%2C%20P.%2C%20Constan%26%23xE7%3Bo%2C%20C.%2C%20Andrade%2C%20M.%2C%20Bento%2C%20C.%2C%20%26amp%3B%20Silva%2C%20H.%20%282018%29.%20Congenital%20erythrocytosis%20%26%23x2013%3B%20discover%20of%20a%20new%20mutation%20in%20the%20EGLN%201%20gene.%20%3Ci%3EClinical%20Case%20Reports%3C%5C%2Fi%3E%2C%20%3Ci%3E6%3C%5C%2Fi%3E%286%29%2C%201109%26%23x2013%3B1111.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1002%5C%2Fccr3.1499%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1002%5C%2Fccr3.1499%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Congenital%20erythrocytosis%20%5Cu2013%20discover%20of%20a%20new%20mutation%20in%20the%20EGLN%201%20gene%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22J%22%2C%22lastName%22%3A%22Barradas%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22CD%22%2C%22lastName%22%3A%22Rodrigues%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22G%22%2C%22lastName%22%3A%22Ferreira%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22P%22%2C%22lastName%22%3A%22Rocha%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C%22%2C%22lastName%22%3A%22Constan%5Cu00e7o%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22MR%22%2C%22lastName%22%3A%22Andrade%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C%22%2C%22lastName%22%3A%22Bento%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22HM%22%2C%22lastName%22%3A%22Silva%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%222018%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%2210.1002%5C%2Fccr3.1499%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222018-07-16T15%3A58%3A14Z%22%7D%7D%2C%7B%22key%22%3A%22NFKL5IYS%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Manco%20et%20al.%22%2C%22parsedDate%22%3A%222018%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EManco%2C%20L.%2C%20Soares%2C%20A.%2C%20%26amp%3B%20Wasterlain%2C%20S.%20N.%20%282018%29.%20Association%20of%205-HTTLPR%20genotypes%20with%20antissocial%20behavior%20in%20response%20to%20childhood%20environment%3A%20a%20study%20in%20young%20adults%20of%20Portuguese%20origin.%20%3Ci%3EPsychiatry%20Research%3C%5C%2Fi%3E%2C%20%3Ci%3E262%3C%5C%2Fi%3E%2C%20325%26%23x2013%3B327.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1016%5C%2Fj.psychres.2017.01.001%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1016%5C%2Fj.psychres.2017.01.001%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Association%20of%205-HTTLPR%20genotypes%20with%20antissocial%20behavior%20in%20response%20to%20childhood%20environment%3A%20a%20study%20in%20young%20adults%20of%20Portuguese%20origin%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22L.%22%2C%22lastName%22%3A%22Manco%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22A.%22%2C%22lastName%22%3A%22Soares%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22S.%20N.%22%2C%22lastName%22%3A%22Wasterlain%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%222018%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%2210.1016%5C%2Fj.psychres.2017.01.001%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22VFTBIIDW%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222019-01-07T14%3A00%3A56Z%22%7D%7D%2C%7B%22key%22%3A%2258369SES%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Pinho%20et%20al.%22%2C%22parsedDate%22%3A%222018%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EPinho%2C%20S.%2C%20Padez%2C%20C.%2C%20%26amp%3B%20Manco%2C%20L.%20%282018%29.%20High%20AMY1%20copy%20number%20protects%20against%20obesity%20in%20Portuguese%20young%20adults.%20%3Ci%3EAnnals%20of%20Human%20Biology%3C%5C%2Fi%3E%2C%20%3Ci%3E45%3C%5C%2Fi%3E%285%29%2C%20435%26%23x2013%3B439.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1080%5C%2F03014460.2018.1490452%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1080%5C%2F03014460.2018.1490452%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22High%20AMY1%20copy%20number%20protects%20against%20obesity%20in%20Portuguese%20young%20adults%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22S.%22%2C%22lastName%22%3A%22Pinho%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C.%22%2C%22lastName%22%3A%22Padez%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22L.%22%2C%22lastName%22%3A%22Manco%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%222018%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%2210.1080%5C%2F03014460.2018.1490452%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1080%5C%2F03014460.2018.1490452%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22JCHR2C33%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222019-06-25T09%3A24%3A25Z%22%7D%7D%2C%7B%22key%22%3A%22ISS9PAUD%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Silva%22%2C%22parsedDate%22%3A%222018%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3ESilva%2C%20M.%20J.%20F.%20%282018%29.%20%3Ci%3EApplying%20Landscape%20Genetic%20Tools%20to%20Biological%20Anthropology%3A%20Conservation%20of%20Nonhuman%20Primate%20Species%20in%20Guinea-Bissau%2C%20West%20Africa%3C%5C%2Fi%3E.%20CAPP%5C%2FISCSP%20da%20UL%2C%20CIBIO%20e%20Universidade%20de%20Cardiff%20%5BCo-orienta%26%23xE7%3B%26%23xE3%3Bo%3A%20Professora%20Catarina%20Casanova%5D.%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22book%22%2C%22title%22%3A%22Applying%20Landscape%20Genetic%20Tools%20to%20Biological%20Anthropology%3A%20Conservation%20of%20Nonhuman%20Primate%20Species%20in%20Guinea-Bissau%2C%20West%20Africa%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%20J.%20F.%22%2C%22lastName%22%3A%22Silva%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%222018%22%2C%22language%22%3A%22%22%2C%22ISBN%22%3A%22%22%2C%22url%22%3A%22%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22SNJKAV7M%22%5D%2C%22dateModified%22%3A%222019-06-18T09%3A48%3A22Z%22%7D%7D%2C%7B%22key%22%3A%22MYXITK8L%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Alvarez%22%2C%22parsedDate%22%3A%222018%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EAlvarez%2C%20M.%20%282018%29.%20O%20envelhecimento%20e%20a%20sa%26%23xFA%3Bde.%20In%20%3Ci%3EExcel%26%23xEA%3Bncia%20em%20Sa%26%23xFA%3Bde%202%3C%5C%2Fi%3E.%20FAF.%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22bookSection%22%2C%22title%22%3A%22O%20envelhecimento%20e%20a%20sa%5Cu00fade%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%22%2C%22lastName%22%3A%22Alvarez%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22bookTitle%22%3A%22Excel%5Cu00eancia%20em%20Sa%5Cu00fade%202%22%2C%22date%22%3A%222018%22%2C%22language%22%3A%22%22%2C%22ISBN%22%3A%22%22%2C%22url%22%3A%22%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%229MINUKNS%22%5D%2C%22dateModified%22%3A%222019-05-16T11%3A36%3A22Z%22%7D%7D%2C%7B%22key%22%3A%22J6TCTBXI%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Alvarez%22%2C%22parsedDate%22%3A%222018%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EAlvarez%2C%20M.%20%282018%29.%20Os%20determinantes%20biol%26%23xF3%3Bgicos%2C%20sociais%20e%20culturais%20do%20envelhecimento%20saud%26%23xE1%3Bvel.%20In%20%3Ci%3EManual%20de%20Boas%20pr%26%23xE1%3Bticas%20para%20o%20Envelhecimento%20Activo%20e%20Saud%26%23xE1%3Bvel%3C%5C%2Fi%3E%20%28Agein%40Coimbra%20e%20Comiss%26%23xE3%3Bo%20de%20Coordena%26%23xE7%3B%26%23xE3%3Bo%20e%20Desenvolvimento%20da%20Regi%26%23xE3%3Bo%20Centro%29.%20%3Ca%20target%3D%27_blank%27%20href%3D%27http%3A%5C%2F%5C%2Fwww.ccdrc.pt%5C%2Findex.regiao-centro-partilha-%20boas-praticas-de-envelhecimento-ativo-e-%20saudavel%26amp%3Bcatid%3D1573%3Adestaques%26amp%3BItemid%3D756%27%3Ehttp%3A%5C%2F%5C%2Fwww.ccdrc.pt%5C%2Findex.regiao-centro-partilha-%20boas-praticas-de-envelhecimento-ativo-e-%20saudavel%26amp%3Bcatid%3D1573%3Adestaques%26amp%3BItemid%3D756%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22bookSection%22%2C%22title%22%3A%22Os%20determinantes%20biol%5Cu00f3gicos%2C%20sociais%20e%20culturais%20do%20envelhecimento%20saud%5Cu00e1vel%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%22%2C%22lastName%22%3A%22Alvarez%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22bookTitle%22%3A%22Manual%20de%20Boas%20pr%5Cu00e1ticas%20para%20o%20Envelhecimento%20Activo%20e%20Saud%5Cu00e1vel%22%2C%22date%22%3A%222018%22%2C%22language%22%3A%22%22%2C%22ISBN%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Fwww.ccdrc.pt%5C%2Findex.regiao-centro-partilha-%20boas-praticas-de-envelhecimento-ativo-e-%20saudavel%26amp%3Bcatid%3D1573%3Adestaques%26amp%3BItemid%3D756%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%229MINUKNS%22%5D%2C%22dateModified%22%3A%222019-05-16T11%3A38%3A10Z%22%7D%7D%2C%7B%22key%22%3A%22364RWWU6%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Lobitz%20et%20al.%22%2C%22parsedDate%22%3A%222018%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3ELobitz%2C%20Z.%2C%20Telfer%2C%20P.%2C%20Cela%2C%20E.%2C%20Allaf%2C%20B.%2C%20Angastiniotis%2C%20M.%2C%20Backman%20Johansson%2C%20C.%2C%20Badens%2C%20C.%2C%20Bento%2C%20C.%2C%20Bouva%2C%20M.%20J.%2C%20Canatan%2C%20D.%2C%20Charlton%2C%20M.%2C%20Coppinger%2C%20C.%2C%20Daniel%2C%20Y.%2C%20de%20Montalembert%2C%20M.%2C%20Ducoroy%2C%20P.%2C%20Dulin%2C%20E.%2C%20Fingerhut%2C%20R.%2C%20Fr%26%23xF6%3Bmmel%2C%20C.%2C%20Garc%26%23xED%3Ba-Morin%2C%20M.%2C%20%26%23x2026%3B%20with%20the%20endorsement%20of%20EuroBloodNet%2C%20the%20European%20Reference%20Network%20in%20Rare%20Haematological%20Diseases.%20%282018%29.%20Newborn%20screening%20for%20sickle%20cell%20disease%20in%20Europe%3A%20recommendations%20from%20a%20Pan-%20European%20Consensus%20Conference.%20%3Ci%3EBritish%20Journal%20of%20Haematology%3C%5C%2Fi%3E%2C%20%3Ci%3E183%3C%5C%2Fi%3E%284%29%2C%20648%26%23x2013%3B660.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1111%5C%2Fbjh.15600%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1111%5C%2Fbjh.15600%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Newborn%20screening%20for%20sickle%20cell%20disease%20in%20Europe%3A%20recommendations%20from%20a%20Pan-%20European%20Consensus%20Conference%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Z.%22%2C%22lastName%22%3A%22Lobitz%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22P.%22%2C%22lastName%22%3A%22Telfer%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22E.%22%2C%22lastName%22%3A%22Cela%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22B.%22%2C%22lastName%22%3A%22Allaf%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%22%2C%22lastName%22%3A%22Angastiniotis%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C.%22%2C%22lastName%22%3A%22Backman%20Johansson%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C.%22%2C%22lastName%22%3A%22Badens%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C.%22%2C%22lastName%22%3A%22Bento%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%20J.%22%2C%22lastName%22%3A%22Bouva%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22D.%22%2C%22lastName%22%3A%22Canatan%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%22%2C%22lastName%22%3A%22Charlton%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C.%22%2C%22lastName%22%3A%22Coppinger%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Y.%22%2C%22lastName%22%3A%22Daniel%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%22%2C%22lastName%22%3A%22de%20Montalembert%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22P.%22%2C%22lastName%22%3A%22Ducoroy%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22E.%22%2C%22lastName%22%3A%22Dulin%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22R.%22%2C%22lastName%22%3A%22Fingerhut%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C.%22%2C%22lastName%22%3A%22Fr%5Cu00f6mmel%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%22%2C%22lastName%22%3A%22Garc%5Cu00eda-Morin%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22B.%22%2C%22lastName%22%3A%22Gulbis%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22U.%22%2C%22lastName%22%3A%22Holtkamp%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22B.%22%2C%22lastName%22%3A%22Inusa%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22J.%22%2C%22lastName%22%3A%22James%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%22%2C%22lastName%22%3A%22Kleanthous%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22J.%22%2C%22lastName%22%3A%22Klein%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22J.%20B.%22%2C%22lastName%22%3A%22Kunz%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22L.%22%2C%22lastName%22%3A%22Langabeer%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C.%22%2C%22lastName%22%3A%22Lapoum%5Cu00e9roulie%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22A.%22%2C%22lastName%22%3A%22Marcao%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22J.%20L.%22%2C%22lastName%22%3A%22Mar%5Cu00edn%20Soria%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C.%22%2C%22lastName%22%3A%22McMahon%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22K.%22%2C%22lastName%22%3A%22Ohene-Frempong%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22J.%20M.%22%2C%22lastName%22%3A%22P%5Cu00e9rini%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22F.%20B.%22%2C%22lastName%22%3A%22Piel%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22G.%22%2C%22lastName%22%3A%22Russo%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22L.%22%2C%22lastName%22%3A%22Sainati%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%22%2C%22lastName%22%3A%22Schmugge%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22A.%22%2C%22lastName%22%3A%22Streetly%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22L.%22%2C%22lastName%22%3A%22Tshilolo%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C.%22%2C%22lastName%22%3A%22Turner%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22D.%22%2C%22lastName%22%3A%22Venturelli%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22L.%22%2C%22lastName%22%3A%22Vilarinho%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22R.%22%2C%22lastName%22%3A%22Yahyaoui%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22J.%22%2C%22lastName%22%3A%22Elion%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22R.%22%2C%22lastName%22%3A%22Colombatti%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22%22%2C%22lastName%22%3A%22with%20the%20endorsement%20of%20EuroBloodNet%2C%20the%20European%20Reference%20Network%20in%20Rare%20Haematological%20Diseases%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%222018%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%2210.1111%5C%2Fbjh.15600%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222019-05-14T13%3A08%3A34Z%22%7D%7D%2C%7B%22key%22%3A%22S462GVMX%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Manco%20et%20al.%22%2C%22parsedDate%22%3A%222018%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EManco%2C%20L.%2C%20Albuquerque%2C%20D.%2C%20Sousa%2C%20M.%2C%20Martiniano%2C%20R.%2C%20de%20Oliveria%2C%20R.%2C%20Marques%2C%20S.%2C%20Gomes%2C%20V.%2C%20Amorim%2C%20A.%2C%20Alvarez%2C%20L.%2C%20%26amp%3B%20Prata%2C%20M.%20%282018%29.%20The%20Eastern%20side%20of%20the%20Westernmost%20Europeans%3A%20Insights%20from%20subclades%20within%20Y-chromosome%20haplogroup%20J-M304.%20%3Ci%3EAmerican%20Journal%20of%20Human%20Biology%3C%5C%2Fi%3E%2C%20%3Ci%3E30%3C%5C%2Fi%3E%282%29%2C%20e23082.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1002%5C%2Fajhb.23082%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1002%5C%2Fajhb.23082%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22The%20Eastern%20side%20of%20the%20Westernmost%20Europeans%3A%20Insights%20from%20subclades%20within%20Y-chromosome%20haplogroup%20J-M304.%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22L%22%2C%22lastName%22%3A%22Manco%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22D%22%2C%22lastName%22%3A%22Albuquerque%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22MF%22%2C%22lastName%22%3A%22Sousa%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22R%22%2C%22lastName%22%3A%22Martiniano%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22RC%22%2C%22lastName%22%3A%22de%20Oliveria%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22S%22%2C%22lastName%22%3A%22Marques%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22V%22%2C%22lastName%22%3A%22Gomes%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22A%22%2C%22lastName%22%3A%22Amorim%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22L%22%2C%22lastName%22%3A%22Alvarez%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22MJ%22%2C%22lastName%22%3A%22Prata%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%222018%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%2210.1002%5C%2Fajhb.23082%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222019-05-08T15%3A13%3A26Z%22%7D%7D%2C%7B%22key%22%3A%22HWIIV2TT%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Manco%20et%20al.%22%2C%22parsedDate%22%3A%222018%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EManco%2C%20L.%2C%20Silva%2C%20C.%2C%20Fidalgo%2C%20T.%2C%20Martinho%2C%20P.%2C%20Sarmento%2C%20A.%2C%20%26amp%3B%20Ribeiro%2C%20M.%20%282018%29.%20Venous%20thromboembolism%20risk%20associated%20with%20ABO%2C%20F11%20and%20FGG%20loci.%20%3Ci%3EBlood%20Coagulation%20and%20Fibrinolysis%3C%5C%2Fi%3E%2C%20%3Ci%3E29%3C%5C%2Fi%3E%286%29%2C%20528%26%23x2013%3B532.%20%3Ca%20target%3D%27_blank%27%20href%3D%27https%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1097%5C%2FMBC.0000000000000753%27%3Ehttps%3A%5C%2F%5C%2Fdoi.org%5C%2F10.1097%5C%2FMBC.0000000000000753%3C%5C%2Fa%3E%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Venous%20thromboembolism%20risk%20associated%20with%20ABO%2C%20F11%20and%20FGG%20loci%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22L%22%2C%22lastName%22%3A%22Manco%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C%22%2C%22lastName%22%3A%22Silva%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22T%22%2C%22lastName%22%3A%22Fidalgo%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22P.%22%2C%22lastName%22%3A%22Martinho%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22AB%22%2C%22lastName%22%3A%22Sarmento%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22ML%22%2C%22lastName%22%3A%22Ribeiro%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%222018%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%2210.1097%5C%2FMBC.0000000000000753%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%22B7CF8TMG%22%5D%2C%22dateModified%22%3A%222019-05-08T15%3A12%3A32Z%22%7D%7D%2C%7B%22key%22%3A%22DNE8FYKQ%22%2C%22library%22%3A%7B%22id%22%3A559268%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Fidalgo%20et%20al.%22%2C%22parsedDate%22%3A%222018%22%2C%22numChildren%22%3A0%7D%2C%22bib%22%3A%22%3Cdiv%20class%3D%5C%22csl-bib-body%5C%22%20style%3D%5C%22line-height%3A%202%3B%20padding-left%3A%201em%3B%20text-indent%3A-1em%3B%5C%22%3E%5Cn%20%20%3Cdiv%20class%3D%5C%22csl-entry%5C%22%3EFidalgo%2C%20T.%2C%20Martinho%2C%20P.%2C%20Silva%20Pinto%2C%20C.%2C%20Catarino%2C%20C.%2C%20Rodrigues%2C%20F.%2C%20Salvado%2C%20R.%2C%20Carvalho%2C%20M.%2C%20Calheiros%2C%20M.%2C%20Caetano%2C%20G.%2C%20Azevedo%2C%20J.%2C%20Ara%26%23xFA%3Bjo%2C%20L.%20F.%2C%20Kjollerstrom%2C%20P.%2C%20Costa%2C%20M.%2C%20%26amp%3B%20Ribeiro%2C%20M.%20L.%20%282018%29.%20Estudio%20de%20coagulopatias%20hereditarias%20por%20secuenciaci%26%23xF3%3Bn%20masiva%20%28NGS%29%20La%20experiencia%20de%20un%20centro%20de%20diagn%26%23xF3%3Bstico.%20%3Ci%3EThrombosis%20and%20Haemostasis%3C%5C%2Fi%3E%2C%20%3Ci%3EPonencias%20y%20Comunicaciones%20Sociedad%20Espa%26%23xF1%3Bola%20de%20Trombosis%20y%20Hemostasia%2C%20Granada%2C%2011-13%20de%20octubre%20de%202018%3C%5C%2Fi%3E%2C%20140%26%23x2013%3B141.%3C%5C%2Fdiv%3E%5Cn%3C%5C%2Fdiv%3E%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Estudio%20de%20coagulopatias%20hereditarias%20por%20secuenciaci%5Cu00f3n%20masiva%20%28NGS%29%20La%20experiencia%20de%20un%20centro%20de%20diagn%5Cu00f3stico%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22T.%22%2C%22lastName%22%3A%22Fidalgo%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22P.%22%2C%22lastName%22%3A%22Martinho%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C.%22%2C%22lastName%22%3A%22Silva%20Pinto%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22C.%22%2C%22lastName%22%3A%22Catarino%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22F.%22%2C%22lastName%22%3A%22Rodrigues%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22R.%22%2C%22lastName%22%3A%22Salvado%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%22%2C%22lastName%22%3A%22Carvalho%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%22%2C%22lastName%22%3A%22Calheiros%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22G.%22%2C%22lastName%22%3A%22Caetano%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22J.%22%2C%22lastName%22%3A%22Azevedo%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22L.F.%22%2C%22lastName%22%3A%22Ara%5Cu00fajo%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22P.%22%2C%22lastName%22%3A%22Kjollerstrom%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.%22%2C%22lastName%22%3A%22Costa%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22M.L.%22%2C%22lastName%22%3A%22Ribeiro%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%222018%22%2C%22language%22%3A%22%22%2C%22DOI%22%3A%22%22%2C%22ISSN%22%3A%22%22%2C%22url%22%3A%22%22%2C%22collections%22%3A%5B%22Z7XD6PQF%22%2C%226CPMFRTF%22%5D%2C%22dateModified%22%3A%222019-02-04T14%3A32%3A39Z%22%7D%7D%5D%7D
Oliveira, A. L., Sousa, T., & Alvarez, M. (2024). Longevidade saudável e equilíbrios dinâmicos do bem-estar, da dieta e da atividade física: Publicação Antecipada. Revista Portuguesa de Investigação Comportamental e Social, 10(1), 1–20. https://doi.org/10.31211/rpics.2024.10.1.315
Queiroz, G., Monteiro, C., Manco, L., Relvas, L., Trovoada, M. de J., Leite, A., & Bento, C. (2024). Sickle cell trait in São Tomé e Príncipe: a population-based prevalence study in women of reproductive age. BMC Public Health, 24(1), 850. https://doi.org/10.1186/s12889-024-17761-1
Dias, H. C., & Manco, L. (2024). Predicting age from blood by droplet digital PCR using a set of three DNA methylation markers. Forensic Science International, 356, 111950. https://doi.org/10.1016/j.forsciint.2024.111950
Delamare, M., Le Roy, A., Pacault, M., Schmitt, L., Garrec, C., Maaziz, N., Myllykoski, M., Rimbert, A., Karaghiannis, V., Aral, B., Catherwood, M., Airaud, F., Mansour-Hendili, L., Hoogewijs, D., Peroni, E., Idriss, S., Lesieur, V., Caillaud, A., Si-Tayeb, K., … ECYT-3 consortium. (2023). Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis. Haematologica, 108(11), 3068–3085. https://doi.org/10.3324/haematol.2023.282913
Manco, L., Albuquerque, D., Rodrigues, D., Machado-Rodrigues, A. M., & Padez, C. (2023). Protective Association of APOC1/rs4420638 with Risk of Obesity: A case-control Study in Portuguese Children. Biochemical Genetics. https://doi.org/10.1007/s10528-023-10427-4
Videira-Silva, A., Manco, L., Sardinha, L. B., & Fonseca, H. (2023). Vigorous physical activity: A potential ally in adolescent obesity management. European Journal of Sport Science, 23(4), 607–616. https://doi.org/10.1080/17461391.2022.2035437
Manco, L., Pereira, J., Fidalgo, T., Cunha, M., Pinto-Gouveia, J., Padez, C., & Palmeira, L. (2023). Next-generation sequencing of 12 obesity genes in a Portuguese cohort of patients with overweight and obesity. European Journal of Medical Genetics, 66(4), 104728. https://doi.org/10.1016/j.ejmg.2023.104728
Manco, L., Bento, C., Relvas, L., Maia, T., & Ribeiro, M. L. (2023). Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in the Portuguese Population. Acta Medica Portuguesa, 36(2), 81–87. https://doi.org/10.20344/amp.17584
Karaghiannis, V., Maric, D., Garrec, C., Maaziz, N., Buffet, A., Schmitt, L., Antunes, V., Airaud, F., Aral, B., Roy, A. L., Corbineau, S., Mansour-Hendili, L., Lesieur, V., Rimbert, A., Laporte, F., Delamare, M., Rab, M., Bézieau, S., Cassinat, B., … Gardie, B. (2023). Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis. Haematologica, 108(6), 1652–1666. https://doi.org/10.3324/haematol.2022.281698
Manco, L., Albuquerque, D., Aranda, B., Rodrigues, D., Machado-Rodrigues, A. M., & Padez, C. (2023). Differential sex-association between PCSK1 polymorphisms and obesity risk in Portuguese children. American Journal of Human Biology, n/a(n/a), e24023. https://doi.org/10.1002/ajhb.24023
Mañú Pereira, M. D. M., Colombatti, R., Alvarez, F., Bartolucci, P., Bento, C., Brunetta, A. L., Cela, E., Christou, S., Collado, A., de Montalembert, M., Dedeken, L., Fenaux, P., Galacteros, F., Glenthøj, A., Gutiérrez Valle, V., Kattamis, A., Kunz, J., Lobitz, S., McMahon, C., … Gulbis, B. (2023). Sickle cell disease landscape and challenges in the EU: the ERN-EuroBloodNet perspective. The Lancet. Haematology, 10(8), e687–e694. Scopus. https://doi.org/10.1016/S2352-3026(23)00182-5
Kountouris, P., Stephanou, C., Lederer, C. W., Traeger-Synodinos, J., Bento, C., Harteveld, C. L., Fylaktou, E., Koopmann, T. T., Halim-Fikri, H., Michailidou, K., Nfonsam, L. E., Waye, J. S., Zilfalil, B. A., Kleanthous, M., & ClinGen Hemoglobinopathy Variant Curation Expert Panel. (2022). Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel. Human Mutation, 43(8), 1089–1096. https://doi.org/10.1002/humu.24280
Manco, L., Santos, R., Rocha, C., Relvas, L., Bento, C., Maia, T., Gomes, V., Amorim, A., & Prata, M. J. (2022). Hb F Levels in β-Thalassemia Carriers and Normal Individuals: Known and Unknown Quantitative Trait Loci in the β-Globin Gene Cluster. Hemoglobin, 46(3), 168–175. https://doi.org/10.1080/03630269.2022.2070498
Manco, L., & Dias, H. C. (2022). DNA methylation analysis of ELOVL2 gene using droplet digital PCR for age estimation purposes. Forensic Science International, 333, 111206. https://doi.org/10.1016/j.forsciint.2022.111206
Kirschner, M., Heinen, I. R., Koschmieder, S., Manco, L., Bento, C., Eggermann, T., Kurth, I., Jost, E., Brümmendorf, T. H., & Fuchs, R. (2022). Novel homozygous nonsense mutation in the P5′N-1 coding gene as an alternative cause for hereditary anemia with basophilic stippling. Clinical Case Reports, 10(3), e05501. https://doi.org/10.1002/ccr3.5501
Pascual, C., Nieto, J. M., Fidalgo, T., Seguí, I. G., Díaz-Ricart, M., Docampo, M. F., del Rio, J., & Salinas, R. (2021). Multicentric evaluation of the new HemosIL Acustar® chemiluminescence ADAMTS13 activity assay. International Journal of Laboratory Hematology, 43(3), 485–493. https://doi.org/10.1111/ijlh.13414
Correia Dias, H., Manco, L., Corte Real, F., & Cunha, E. (2021). A Blood–Bone–Tooth Model for Age Prediction in Forensic Contexts. Biology, 10(12), 1312. https://doi.org/10.3390/biology10121312
Dias, H. (2021). Metilação de DNA como um preditor de idade à morte. Tese de Doutoramento em Antropologia, especialização em Antropologia Forense. Departamento de Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade de Coimbra [Orientação: Professora Eugénia Cunha, Professor Licínio Manco, Professor Francisco Corte Real].
González, L., García‑Herráiz, A., Mota‑Zamorano, S., Flores, I., Albuquerque, D., & Gervacini, G. (2021). Variability in cannabinoid receptor genes is associated with psychiatric comorbidities in anorexia nervosa. Eating and Weight Disorders, [Early View]. https://doi.org/10.1007/s40519-021-01106-7
Moreira Fonseca, N., Cardoso, F., Monteiro, M., Góis, M., Sousa, H., Fidalgo, T., Calado, J., & Nolasco, F. (2020). A case of bortezomib-associated thrombotic microangiopathy in a multiple myeloma patient. Journal of Onco-Nephrology, 4(1–2), 46–51. https://doi.org/10.1177/2399369319894343
Relvas, M., Tavares, I., Fidalgo, T., Mendonça, L., & Coentrão, L. (2020). Reviewing thrombotic thrombocytopenic purpura diagnosis and treatment in a Portuguese hospital. European Journal of Internal Medicine, 71, 95–97. https://doi.org/10.1016/j.ejim.2019.11.004
Manco, L., Bento, C., Relvas, L., Cunha, E., Pereira, J., Moreira, V., Alvarez, M., Maia, T., & Ribeiro, M. L. (2020). Multi-Locus Models to Address Hb F Variability in Portuguese β-Thalassemia Carriers. Hemoglobin – International Journal for Hemoglobin Research, 44(2), 113–117. https://doi.org/10.1080/03630269.2020.1753766
Manco, L., Machado-Rodrigues, A. M., & Padez, C. (2020). Association study of common functional genetic polymorphisms in SLC6A4 (5-HTT) and MAOA genes with obesity in portuguese children. Archives of Physiology and Biochemistry, Epub(Jun), 1–6. https://doi.org/10.1080/13813455.2020.1779312
Correia Dias, H., Corte Real, F., Cunha, E., & Manco, L. (2020). DNA methylation age estimation from human bone and teeth. Australian Journal of Forensic Sciences, [Epub]. https://doi.org/10.1080/00450618.2020.1805011
Correia Dias, H., Cunha, E., Corte Real, F., & Manco, L. (2020). Age prediction in living: Forensic epigenetic age estimation based on blood samples. Legal Medicine, 47, 101763. https://doi.org/10.1016/j.legalmed.2020.101763
Correia Dias, H., Cordeiro, C., Pereira, J., Pinto, C., Real, F. C., Cunha, E., & Manco, L. (2020). DNA methylation age estimation in blood samples of living and deceased individuals using a multiplex SNaPshot assay. Forensic Science International, 311, 110267. https://doi.org/10.1016/j.forsciint.2020.110267
Correia Dias, H., Cordeiro, C., Real, F. C., Cunha, E., & Manco, L. (2020). Age Estimation Based on DNA Methylation Using Blood Samples From Deceased Individuals. Journal of Forensic Sciences, 65(2), 465–470. https://doi.org/10.1111/1556-4029.14185
Michiels, J. J., Hansen, D. F., Smejkal, P., Fidalgo, T., Battle, F. J., Blatny, J., Penka, M., Batorova, A., Prigancova, T., Budde, U., Vangenechten, I., & Gadisseur, A. (2019). Molecular Etiology and Laboratory Phenotypes of Recessive Von Willebrand Disease 2N Due to Mutations in the D’D3 Factor VIII-Binding Domain of the Von Willebrand Factor Gene: A Critical Appraisal of the Literature and Personal Experiences. Acta Scientific Medical Sciences, 3(12). https://doi.org/http://dx.doi.org/10.31080/asms.2019.03.0483
Mutlu, B., Keskin, E. Y., Oliveira, A., Relvas, L., & Bento, C. (2019). A Rare Cause of Cyanosis Since Birth: Hb M-Iwate. Turkish Journal of Haematology, 36(4), 299–301. https://doi.org/10.4274/tjh.galenos.2019.2019.0123
Palmeira, L., Cunha, M., Padez, C., Alvarez, M., Pinto-Gouveia, J., & Manco, L. (2019). Association study of variants in genes FTO, SLC6A4, DRD2, BDNF and GHRL with binge eating disorder (BED) in Portuguese women. Psychiatry Research, 273, 309–311. https://doi.org/10.1016/j.psychres.2019.01.047
Marini, S. C., Carda, P., Guilherme, R., Pinto, C. S., Fidalgo, T., & Ribeiro, M. L. (2019). Atypical hemolytic – uremic syndrome : recurrent phenotypic expression of a patient with MCP gene mutation combined with risk haplotypes. BLOOD COAGULATION & FIBRINOLYSIS, 30(2), 68–70. https://doi.org/10.1097/MBC.0000000000000793
Manco, L., Pinho, S., Albuquerque, D., Machado-Rodrigues, A. M., & Padez, C. (2019). Physical activity and the association between the FTO rs9939609 polymorphism and obesity in Portuguese children aged 3 to 11 years. American Journal of Human Biology, 31([Epub ahead of print]), e23312. https://doi.org/10.1002/ajhb.23312
Borràs, N., & [...] & Fidalgo, T. (2019). Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA. Haematologica, 104(3), 587–598. https://doi.org/10.3324/haematol.2018.203166
Gimeno-Ferrer, F., Albuquerque, D., Banacloy, A. G., Luján, C. G., Benito, G. M., Juan, C. S., Esteban, M. B., & Rodríguez-López, R. (2019). Genetic screening for MC4R gene identifies three novel mutations associated with severe familiar obesity in a cohort of Spanish individuals. Gene, April([In press]). https://doi.org/10.1016/j.gene.2019.04.018
Gimeno-Ferrer, F., Albuquerque, D., Luján, C. G., Benito, G. M., Banzas, C. T., Repáraz-Andrade, A., Cogollos, V. B., Pérez-Gramunt, M. A., Gómez, E. G., Quintela, I., & Rodríguez-López, R. (2019). The effect of copy number variations in chromosome 16p on body weight in patients with intellectual disability. Journal of Human Genetics, 64(3), 221–231. https://doi.org/10.1038/s10038-018-0545-5
Albuquerque, D., González, L. M., Ferrer, F. G., Bruna, M., Sánchez, C., Benito, G. M., Rodríguez-López, R., & Manco, L. (2018). Association study of six single nucleotide polymorphisms with obesity in two independent Iberian samples. Meta Gene, 17, 17–22. https://doi.org/10.1016/j.mgene.2018.04.006
Navarro, D., Azevedo, A., Sequeira, S., Ferreira, A., Carvalho, F., Fidalgo, T., Vilarinho, L., Santos, M., Calado, J., & Nolasco, F. (2018). Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome. CEN Case Reports, 7(1), 73–76. https://doi.org/10.1007/s13730-017-0298-6
Azevedo, A., Faria, B., Teixeira, C., Carvalho, F., Neto, G., Santos, J., Santos, M. C., Oliveira, N., Fidalgo, T., & Calado, J. (2018). Portuguese Consensus Document Statement in diagnostic and management of atypical hemolytic uremic syndrome. Port J Nephrol Hypertens, 32, 211–232.
Gimeno-Ferrer, F., Albuquerque, D., Ledesma, M., Monzó, C., Gervasini, G., Angueira, F., Carbonell, J., Benito, G., Rodríguez-López, R., & Gómez, E. (2018). Molecular characterization of the coexistence of 18q haploinsufficiency and 18p duplication, causal of a complex syndromic phenotype. Genética Médica y Genómica, [Epub].
Coelho, S., Fernandes, A., Soares, E., Valério, P., Matos, B., Romão, H., Góis, M., Sousa, H., Fidalgo, T., Natário, A., & Barreto, C. (2018). A new complement factor B mutation associated with crescentic C3 glomerulopathy; a case report. Journal of Nephropathology, 7([Epub]). https://doi.org/10.15171/jnp.2018.xx
Barradas, J., Rodrigues, C., Ferreira, G., Rocha, P., Constanço, C., Andrade, M., Bento, C., & Silva, H. (2018). Congenital erythrocytosis – discover of a new mutation in the EGLN 1 gene. Clinical Case Reports, 6(6), 1109–1111. https://doi.org/10.1002/ccr3.1499
Manco, L., Soares, A., & Wasterlain, S. N. (2018). Association of 5-HTTLPR genotypes with antissocial behavior in response to childhood environment: a study in young adults of Portuguese origin. Psychiatry Research, 262, 325–327. https://doi.org/10.1016/j.psychres.2017.01.001
Pinho, S., Padez, C., & Manco, L. (2018). High AMY1 copy number protects against obesity in Portuguese young adults. Annals of Human Biology, 45(5), 435–439. https://doi.org/10.1080/03014460.2018.1490452
Silva, M. J. F. (2018). Applying Landscape Genetic Tools to Biological Anthropology: Conservation of Nonhuman Primate Species in Guinea-Bissau, West Africa. CAPP/ISCSP da UL, CIBIO e Universidade de Cardiff [Co-orientação: Professora Catarina Casanova].
Alvarez, M. (2018). O envelhecimento e a saúde. In Excelência em Saúde 2. FAF.
Alvarez, M. (2018). Os determinantes biológicos, sociais e culturais do envelhecimento saudável. In Manual de Boas práticas para o Envelhecimento Activo e Saudável (Agein@Coimbra e Comissão de Coordenação e Desenvolvimento da Região Centro). http://www.ccdrc.pt/index.regiao-centro-partilha- boas-praticas-de-envelhecimento-ativo-e- saudavel&catid=1573:destaques&Itemid=756
Lobitz, Z., Telfer, P., Cela, E., Allaf, B., Angastiniotis, M., Backman Johansson, C., Badens, C., Bento, C., Bouva, M. J., Canatan, D., Charlton, M., Coppinger, C., Daniel, Y., de Montalembert, M., Ducoroy, P., Dulin, E., Fingerhut, R., Frömmel, C., García-Morin, M., … with the endorsement of EuroBloodNet, the European Reference Network in Rare Haematological Diseases. (2018). Newborn screening for sickle cell disease in Europe: recommendations from a Pan- European Consensus Conference. British Journal of Haematology, 183(4), 648–660. https://doi.org/10.1111/bjh.15600
Manco, L., Albuquerque, D., Sousa, M., Martiniano, R., de Oliveria, R., Marques, S., Gomes, V., Amorim, A., Alvarez, L., & Prata, M. (2018). The Eastern side of the Westernmost Europeans: Insights from subclades within Y-chromosome haplogroup J-M304. American Journal of Human Biology, 30(2), e23082. https://doi.org/10.1002/ajhb.23082
Manco, L., Silva, C., Fidalgo, T., Martinho, P., Sarmento, A., & Ribeiro, M. (2018). Venous thromboembolism risk associated with ABO, F11 and FGG loci. Blood Coagulation and Fibrinolysis, 29(6), 528–532. https://doi.org/10.1097/MBC.0000000000000753
Fidalgo, T., Martinho, P., Silva Pinto, C., Catarino, C., Rodrigues, F., Salvado, R., Carvalho, M., Calheiros, M., Caetano, G., Azevedo, J., Araújo, L. F., Kjollerstrom, P., Costa, M., & Ribeiro, M. L. (2018). Estudio de coagulopatias hereditarias por secuenciación masiva (NGS) La experiencia de un centro de diagnóstico. Thrombosis and Haemostasis, Ponencias y Comunicaciones Sociedad Española de Trombosis y Hemostasia, Granada, 11-13 de octubre de 2018, 140–141.