Genes, Populations and Disease

You are here: CIAS > Groups > Genes, Populations and Disease
ObjectivesResearchersProjectsPublications

Main Researcher: Licínio Manco

The main research focus of Genes, Populations and Diseases group is the assessment of genetic variation across populations, including both normal and disease phenotypes.

The group activity covers important topics in human genetics, including:

    1. genetic basis of complex diseases, including obesity;
    1. molecular basis of haematological conditions, namely red cell enzyme deficiencies, HbF production in adults and venous thrombosis susceptibility.
    1. effect of diseases (such as malaria) on modern patterns of genetic variation;
  1. population genetics studies using Y-chromosome and autosomal variants.

Coordinator

Licínio Manco
Researcher; Group Coordinator
Licínio MancoResearcher; Group Coordinator

 

Research group: Genes, Populations and Disease (Group Coordinator)LManco

 

Institutional Address:

Research Centre for Anthropology and Health (CIAS)

Department of Life Sciences

Email: lmanco@antrop.uc.pt

Phone number: +351 239 240 700

 

Research interests:

  • Genetic basis of human variation, in both normal and disease phenotypes;
  • Genetic basis of complex diseases, including obesity and haematological conditions;
  • Molecular basis of human genetic diseases, with a particular focus on red cell enzyme deficiencies;
  • Population genetic studies using common genetic variation in autosomal and Y-chromosome loci.

 

Ongoing Projects:

P1: Genetic and environmental determinants of healthy ageing and longevity.

P2: Genetic basis of haematological conditions.

– Genetics of venous thrombosis (VT) risk.

– Fetal haemoglobin (HbF) gene regulation.

P3: Study of genetic variants associated with common and morbid obesity.

P4: Y-chromosome variation in Portugal: relationships with historical or demographic events

and patrilineal surnames.

P5: Ancient DNA analyses from human skeletal remains.

 

Personal URL:

https://www.researchgate.net/profile/Licinio_Manco

https://orcid.org/0000-0002-2636-0288

http://www.degois.pt/visualizador/curriculum.jsp?key=6067775827694493

https://www.scopus.com/authid/detail.uri?authorId=6701505412

Researchers 

Celeste Bento
Researcher
Celeste BentoResearcher

 

Research group: Genes, Populations and DiseaseCeleste Bento

Institutional Address:

Hospitais da Universidade de Coimbra
Department of Clinical Hematology
Coimbra, Portugal

Email: celeste.bento@chuc.min-saude.pt

 

Research interests:

  • Hematology
  • Blood
  • Hemoglobinopathies
  • Blood Disorders
  • Erythrocytosis
  • Red Blood Cells
  • Hemoglobin M
  • Abnormal Erythrocytes

Personal URL:

https://independent.academia.edu/CelesteBento

https://orcid.org/0000-0003-1080-411X

https://www.scopus.com/authid/detail.uri?authorId=7003495294

David Albuquerque
Post-Doc Researcher
David AlbuquerquePost-Doc Researcher

Research group: Genes, Populations and Disease

 

Institutional Address:

Research Center for Anthropology and Health (CIAS),
University of Coimbra,

Email: dav.albuquerque@gmail.com

 

Research interests

I am currently interested on the study of the genetic basis of obesity, particularly the following lines:

  • Identify new genetic variants associated with the susceptibility risk to develop an obese phenotype.
  • Identify mutations in the MC4R and LEPR genes associated with monogenic obesity.
  • Examine the methylation levels of several CpG sites.

Overall, I am interested in identifying a genetic profile to predict the obesity susceptibility risk.

 

Personal URL:

CienciaVitae: 8D1D-B84E-E349

http://www.degois.pt/visualizador/curriculum.jsp?key=6209402451024566

http://www.orcid.org/0000-0001- 8899-9020

https://www.researchgate.net/profile/David_Albuquerque

Manuela Alvarez
Assistant Professor
Manuela AlvarezAssistant Professor

 

Research group: Genes, Populations and Disease

 

Institutional Address:

Departamento de Ciências da Vida
Faculdade de Ciências e Tecnologia
Universidade de Coimbra
Calçada Martim de Freitas
3000-456 Coimbra
Portugal

 

Email: 

alvarez@antrop.uc.pt

 

Research interests: 

Genetics of Human Populations, Human Population Dynamics and Evolution.

 

Personal URL

https://www.cienciavitae.pt/portal/3F14-40E4-2DAE

ORCID iD: 0000-0002-0336-2299

http://www.degois.pt/visualizador/curriculum.jsp?key=5306830375143950

 

Maria Letícia Ribeiro
Researcher
Maria Letícia RibeiroResearcher

Research group: Genes, Populations and Disease

Teresa Fidalgo
Researcher
Teresa FidalgoResearcher

PhD, Responsable for the Laboratory of Molecular Hematology, University Hospital Center of Coimbra

Research group: Genes, Populations and Disease

 

Research Interest: Mutation analysis; Hematologic Diseases; Human molecular genetic; Next Generation Sequencing

Her major research activities have been in molecular diagnosis of Haemophilia, von Willebrand Disease, thrombotic thrombocytopenic purpura (TTP) and hemolytic uremic syndrome (HUS). She is currently involved in optimisation of these studies and other coagulopathies by Next Generation Sequencing (NGS).

 

Personal URL:

https://www.researchgate.net/profile/Teresa_Fidalgo2

https://orcid.org/0000-0003-4495-4431

Researchers (PhD Students)

Helena Dias
PhD Student
Helena DiasPhD Student

Research group: Genes, Populations and Disease

Institutional Address: Department of Life Sciences, University of Coimbra  

Email: helenadias_3@hotmail.com

Research interests:

Human Genetics, Human Biology, Genetic basis of complex diseases, Forensic Genetics, Forensic Anthropolgy, Osteology, Skeletal Biology, Age at death estimation, DNA methylation, Ancient DNA, Burned bones, Paleopatology ; Biogeographic ancestry markers

Personal URL:

https://orcid.org/0000-0003-4711-6038

ResearchGate

 Linkedin 

Collaborators

Ana Paula Arez
Researcher
Ana Paula ArezResearcher
Research group: Genes, Populations and Disease
Ana_Arez
Institutional Address:
Universidade Nova de Lisboa, Instituto de Higiene e Medicina Tropical, Centro de Malária e outras Doenças Tropicais (CMDT)
Phone number: (+351)213652600Extensão: 361
E-mail: aparez@ihmt.unl.pt
Research interests:
Ana Paula Arez works in the area of Health and Biological Sciences, mainly in research related to malaria and other parasitic disease
Personal URL:
Cristina Afonso
PhD Student
Cristina AfonsoPhD Student

 

Research group: Genes, Populations and Disease


Institutional Address: Research Centre for Anthropology and Health

Email: capa105@gmail.com

 

Research interests:

  • Ancient DNA
  • Molecular Biology

 

Personal URL:

https://coimbra.academia.edu/CristinaAfonso

https://www.researchgate.net/profile/Cristina_Afonso3/info

 

Janet Pereira
Researcher
Janet PereiraResearcher
Rui Sá
Researcher
Rui SáResearcher

 

rui sá

Research group: Genes, Populations and Disease

 

Institutional Address: Department of Life Sciences

E-mail: rms@uc.pt

 

Research interests:

BSc in Anthropology from the University of Lisbon, with the specialty of Ethno-Cultural and Biological Anthropology Relations (2003). Holds a Post Gradutate Diploma in Human Evolution at the University of Coimbra (2007) and Master in Evolution and Human Biology also from the University of Coimbra. His Phd was in Biological Anthropology and Ethnoecology at Univeraidade Nova de Lisboa and Cardiff University-UK, having been awarded the title of Doctor Europaeus (2013). His postdoctoral studies were performed on the recently created  HPI-Lab (Laboratory for Infectious Diseases Common to Human and Non Human Primates) in Brno, Czech Republic, belonging to the Faculty of Veterinary Medicine of the University of Veterinary and Pharmaceutical Sciences (2012-2014).

He has experience in Molecular Ecology area and Mastozoology, being expert in Primatology, but also in Parasitology, Conservation Genetics , Phylogeography and Ethnobiology of African primates with emphasis on West Africa and especially in Guinea-Bissau, where he works since 2007. Its research interests relate to Intersectionality between Biology, Ecology, Biodiversity Conservation (and in general of other species), Emerging and neglected infectious diseases, primate aging and longevity,  and ethno-cultural perceptions of wildlife. Methodologically he applies a myriad of comprehensive techniques in his studies; i.e. genetic, parasitological and ethnographic.

 

Ongoing Projects:

Aging and longevity in Coimbra district- ANT/00283

 

Closed Projects:

Development team and scientific laboratory for infectious diseases common to humans and great apes, Czech Grant Agency CZ.1.07/2.3.00/20.0300

Applied landscape genetics to chimpanzee conservation in Guinea-Bissau. United States Fisheries and Wildlife Service. Great Ape Fund, GA 0678.

Guinea-Bissau endangered chimpanzee conservation genetics: Biological Anthropology contribution to biodiversity conservation. PTDC/CS/ANT/099184/2008.

Genetic characterization of a group of chimpanzees (Pan troglodytes verus) from the coastal region of Guinea-Bissau. Portuguese Science and Technology Foundation. SFRH/BD/35797/2007

Chimpanzee distribution and relation with local human communities in coastal area of Guinea-Bissau. POCI/ANT/57434/2004

 

Personal URL:

https://orcid.org/0000-0001-6407-4541

https://www.researchgate.net/profile/Rui_Sa4/info?ev=prf_info

http://www.degois.pt/visualizador/curriculum.jsp?key=9033764491665827

http://cardiff.academia.edu/RuiSá

Ciência ID: A01C-64F8-D68E

Genetics of obesity in the Portuguese population

Duration: 2015 – 2023

The integration of omic techniques for the identification of polygenic profiles of susceptibility to obesity

Duration: 2016 – 2017

Genetic and environmental determinants of healthy ageing and longevity in the population of central Portugal

Duration: 2016 – 2023

Integrating human omics data for discovering common susceptibility polygenic profiles for obesity

Duration: 2017 – 2019

Age estimation based in DNA methylation

Duration: 2017 – 2020

The influence of genes variability of the central nervous system related to
obesity on the establishment and evolution of eating disorders

Duration: 2018 – 2020

Genetic basis of haematological conditions

Duration: 2018 – 2023

Y-chromosome variation in Portugal: relationships with historical or demographic events and patrilineal surnames

Duration: 2018 – 2023

2020
Manco, L., Bento, C., Relvas, L., Cunha, E., Pereira, J., Moreira, V., … Ribeiro, M. L. (2020). Multi-Locus Models to Address Hb F Variability in Portuguese β-Thalassemia Carriers. Hemoglobin – International Journal for Hemoglobin Research, [Epub ahead of print]. https://doi.org/10.1080/03630269.2020.1753766
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
2019
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
Gimeno-Ferrer, F., Albuquerque, D., Banacloy, A. G., Luján, C. G., Benito, G. M., Juan, C. S., … 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., … 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
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
2018
Silva, M. J. F. (2018). Applying Landscape Genetic Tools to Biological Anthropology: Conservation of Nonhuman Primate Species in Guinea-Bissau, West Africa. Tese de Pós-Doutoramento: CAPP/ISCSP da UL, CIBIO e Universidade de Cardiff [Co-orientação: Professora Catarina Casanova].
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
Navarro, D., Azevedo, A., Sequeira, S., Ferreira, A., Carvalho, F., Fidalgo, T., … 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
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
Manco, L., Albuquerque, D., Sousa, M., Martiniano, R., de Oliveria, R., Marques, S., … 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
Lobitz, Z., Telfer, P., Cela, E., Allaf, B., Angastiniotis, M., Backman Johansson, C., … 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
Lenglet, M., Robriguet, F., Schwarz, K., Camps, C., Couturier, A., Hoogewijs, D., … Gardie, B. (2018). Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease. Blood, 132(5), 469–483. https://doi.org/10.1182/blood-2018-03-838235
Gimeno-Ferrer, F., Albuquerque, D., Ledesma, M., Monzó, C., Gervasini, G., Angueira, F., … 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].
Fidalgo, T., Martinho, P., Silva Pinto, C., Catarino, C., Rodrigues, F., Salvado, R., … 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.
Coelho, S., Fernandes, A., Soares, E., Valério, P., Matos, B., Romão, H., … 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
Borràs Agustí, N., & [...] & Fidalgo, T. (2018). Explorando el efecto de mutaciones intrónicas, sinónimas y missense del VWF sobre el splicing: aportación de la NGS en el estudio del RNA. Thrombosis and Haemostasis, Ponencias y Comunicaciones Sociedad Española de Trombosis y Hemostasia (11-13 de octubre de 2018), 93–94.
Bento, C. (2018). Genetic basis of congenital erythrocytosis. International Journal of Laboratory Hematology, 40(1), 62–67. https://doi.org/10.1111/ijlh.12828
Barradas, J., Rodrigues, C., Ferreira, G., Rocha, P., Constanço, C., Andrade, M., … 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
Azevedo, A., Faria, B., Teixeira, C., Carvalho, F., Neto, G., Santos, J., … Calado, J. (2018). Portuguese Consensus Document Statement in diagnostic and management of atypical hemolytic uremic syndrome. Port J Nephrol Hypertens, 32, 211–232.
Alvarez, M. (2018). O envelhecimento e a saúde. In Excelência em Saúde 2. Coimbra: 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). Retrieved from http://www.ccdrc.pt/index.regiao-centro-partilha- boas-praticas-de-envelhecimento-ativo-e- saudavel&catid=1573:destaques&Itemid=756
2017
Martiniano, R., Cassidy, L. M., Ó’Maoldúin, R., McLaughlin, R., Silva, N. M., Manco, L., … Bradley, D. G. (2017). The population genomics of archaeological transition in west Iberia: Investigation of ancient substructure using imputation and haplotype-based methods. PLOS Genetics, 13(7), e1006852. https://doi.org/10.1371/journal.pgen.1006852
Manco, L., Dias, H., Muc, M., & Padez, C. (2017). The lactase −13910C>T polymorphism (rs4988235) is associated with overweight/obesity and obesity-related variables in a population sample of Portuguese young adults. European Journal of Clinical Nutrition, 71, 21–24. https://doi.org/10.1038/ejcn.2016.164
Keskin, E. Y., Fettah, A., Oliveira, A. C., Toprak, Ş., Lopes, A., & Bento, C. (2017). First Observation of Hemoglobin San Diego, a High Oxygen Affinity Hemoglobin Variant, in Turkey. Turkish Journal of Haematology, 34(4), 372–373. https://doi.org/10.4274/tjh.2017.0213
Jaouani, M., Manco, L., Kalai, M., Chaouch, L., Douzi, K., Silva, A., … Abbes, S. (2017). Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in the PKLR gene. International Journal of Laboratory Hematology, 39(2), 223–231. https://doi.org/10.1111/ijlh.12610
Gamero-Villarroel, C., González, L. M., Rodríguez-López, R., Albuquerque, D., Carrillo, J. A., García-Herráiz, A., … Gervasini, G. (2017). Influence of TFAP2B and KCTD15 genetic variability on personality dimensions in anorexia and bulimia nervosa. Brain and Behavior, 7(9), e00784. https://doi.org/10.1002/brb3.784
Fidalgo, T., Martinho, P., Pinto, C. S., Oliveira, A. C., Salvado, R., Borràs, N., … Ribeiro, M. L. (2017). Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing. Research and Practice in Thrombosis and Haemostasis, 1(1), 69–80. https://doi.org/10.1002/rth2.12016
Fidalgo, T., Ferreira, G., Oliveira, A. C., Silva Pinto, C., Martinho, P., Mendes, M. J., … Ribeiro, M. L. (2017). Acquired von Willebrand syndrome in haematologic malignancies - how the clinical-laboratory correlation improves a challenging diagnosis - a case series. Haemophilia, 23(4), e361–e365. https://doi.org/10.1111/hae.13243
Fidalgo, T., Oliveira, A., Silva Pinto, C., Martinho, P., Ferreira, G., Salvado, R., … Ribeiro, M. L. (2017). VWF collagen (types III and VI)-binding defects in a cohort of type 2M VWD patients - a strategy for improvement of a challenging diagnosis. Haemophilia, 23(2), e143–e147. https://doi.org/10.1111/hae.13156
Feroe, E., Broene, R., Albuquerque, D., & Ruiz, P. (2017). Endocrine disrupting chemicals, transgenerational epigenetics and metabolic diseases. EC Endocrinology and Metabolic Research, 2(1), 31–51. Retrieved from https://www.ecronicon.com/ecemr/pdf/ECEMR-02-00025.pdf
Albuquerque, D., Nóbrega, C., Manco, L., & Padez, C. (2017). The contribution of genetics and environment to obesity. British Medical Bulletin, 123(1), 159–173. https://doi.org/10.1093/bmb/ldx022
Albuquerque, D., Manco, L., González, L. M., Gervasini, G., Marcaida Benito, G., González, J. R., & Rodríguez-López, R. (2017). Polymorphisms in the SRNPN gene are associated with obesity susceptibility among Spanish population. The Journal of Gene Medicine, 19(5), online. https://doi.org/10.1002/jgm.2956
Albuquerque, D., Manco, L., & Nóbrega, C. (2017). Molecular Biology of Human Obesity: Non-epigenetics in Comparison with Epigenetic Processes. In V. Patel & V. Preedy (Eds.), Handbook of Nutrition, Diet, and Epigenetics (pp. 1–18). https://doi.org/10.1007/978-3-319-31143-2_7-1
2016
Pereira, J., Bento, C., Manco, L., Gonzalez, A., Vagace, J., & Ribeiro, M. L. (2016). Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency. Annals of Hematology, 95(9), 1551–1553. https://doi.org/10.1007/s00277-016-2720-0
Manco, L., Muc, M., & Padez, C. (2016). Association study between near-MC4R variants and obesity-related variables in Portuguese young adults. Gene Reports, 5, 98–101. https://doi.org/10.1016/j.genrep.2016.09.011
Manco, L., Bento, C., Victor, B. L., Pereira, J., Relvas, L., Brito, R. M., … Ribeiro, M. L. (2016). Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular study. Blood Cells, Molecules and Diseases, 60, 18–23. https://doi.org/10.1016/j.bcmd.2016.06.002
Dias, H., Muc, M., Padez, C., & Manco, L. (2016). Association of polymorphisms in 5-HTT (SLC6A4) and MAOA genes with measures of obesity in young adults of Portuguese origin. Archives of Physiology and Biochemistry, 122(1), 8–13. https://doi.org/10.3109/13813455.2015.1111390
Del Orbe Barreto, R., Arrizabalaga, B., De la Hoz Rastrollo, A. B., García-Orad, A., Gonzalez Vallejo, I., Bento, C., … García-Ruiz, J. C. (2016). Hereditary xerocytosis, a misleading anemia. Annals of Hematology, 95(9), 1545–1546. https://doi.org/10.1007/s00277-016-2716-9
Camps, C., Petousi, N., Bento, C., Cario, H., Copley, R. R., McMullin, M. F., … Taylor, J. C. (2016). Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations. Haematologica, 101(11), 1306–1318. https://doi.org/10.3324/haematol.2016.144063
Cabral, V., Silva Nunes, J., Bento, C., Sobreira, R., Rodrigues, I., Shvets, R., … Barros, R. (2016). Haemoglobin kenitra identified in a Portuguese man with type 2 diabetes and pheochromocytoma. International Journal of Laboratory Hematology, 38(1), E1–E3. https://doi.org/10.1111/ijlh.12437
Bento, C., McMullin, M. F., Percy, M., & Cario, H. (2016). Primary Familial and Congenital Polycythemia. In R. A. Pagon, M. P. Adam, H. H. Ardinger, S. E. Wallace, A. Amemiya, L. J. H. Bean, … K. Stephens (Eds.), GeneReviews® (pp. 1993–2017). Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1116/
Barreto, R. D., Arrizabalaga, B., de la Hoz, A. B., Aragues, P., Garcia-Ruiz, J. C., Arrieta, A., … Ribeiro, M. L. (2016). Severe neonatal jaundice due to a de novo glucose-6-phosphate dehydrogenase deficient mutation. International Journal of Laboratory Hematology, 38(2), E27–E29. https://doi.org/10.1111/ijlh.12455
Barreto, R. D., Arrizabalaga, B., de la Hoz, A. B., García-Orad, Á., Tejada, M. I., Garcia-Ruiz, J. C., … Ribeiro, M. L. (2016). Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing. International Journal of Laboratory Hematology, 38(6), 629–638. https://doi.org/10.1111/ijlh.12551
Alvarez, M., Pereira, P., Manco, L., Cherpe, S., Cunha, M., Pinto Gouveia, J., & Mota, P. G. (2016). Association of serotonin transporter gene polymorphisms (5-HTTLPR and rs 25531) and life-histories with psychopathology vulnerability profiles: a study performed with healthy young adults. Proc. of European Human Genetics Conference, 211. Retrieved from https://www.eshg.org/fileadmin/www.eshg.org/conferences/2016/downloads/ESHG2016_Abstracts_final.pdf
Abecasis, F., Marques, I., Bento, C., & Ferrao, A. (2016). A novel haemoglobin variant mimicking cyanotic congenital heart disease. BMJ Case Reports, 2016. https://doi.org/10.1136/bcr-2015-213615
2015
Vagace, J. M., Pecas, A., Groiss, J., Bento, C., Ribeiro, M. L., & Gervasini, G. (2015). Clinical relevance of erythrocyte ferritin in microcytic anemias. Clinica Chimica Acta, 442(10), 1–5. https://doi.org/10.1016/j.cca.2014.12.035
Toste, S., Relvas, L., Pinto, C., Bento, C., Abade, A., Ribeiro, M. L., & Manco, L. (2015). Intragenic haplotype analysis of common HFE mutations in the Portuguese population. Journal of Genetics, 94(2), 329–333. https://doi.org/10.1007/s12041-015-0510-4
Taylor, J. C., Martin, H. C., Lise, S., Broxholme, J., Cazier, J. B., Rimmer, A., … McVean, G. (2015). Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. Nature Genetics, 47(7), 717–726. https://doi.org/10.1038/ng.3304
Tamura, S., Tamura, T., Gima, H., Nishikawa, A., Okamoto, Y., Kanazawa, N., … Bento, C. (2015). A Japanese Family with Congenital Erythrocytosis Caused by Haemoglobin Bethesda. Internal Medicine, 54(18), 2389–2393. https://doi.org/10.2169/internalmedicine.54.4520
Soares, A. catarina. (2015). Estudo de variantes genéticas associadas a comportamentos agressivos numa amostra populacional portuguesa. Retrieved from http://hdl.handle.net/10316/31313
Pereira, C., Relvas, L., Bento, C., Abade, A., Ribeiro, M. L., & Manco, L. (2015). Polymorphic variations influencing fetal hemoglobin levels: Association study in beta-thalassemia carriers and in normal individuals of Portuguese origin. Blood Cells Molecules and Diseases, 54(4), 315–320. https://doi.org/10.1016/j.bcmd.2015.02.001
Muc, M., Padez, C., & Manco, L. (2015). Influence of physical activity on the association between the FTO variant rs9939609 and adiposity in young adults. American Journal of Human Biology, 27(5), 734–738. https://doi.org/10.1002/ajhb.22712
McMullin, M. F., Bento, C., Rossi, C., Rainey, M. G., Girodon, F., & Cario, H. (2015). Outcomes of pregnancy in patients with congenital erythrocytosis. British Journal of Haematology, 170(4), 586–588. https://doi.org/10.1111/bjh.13313
Manco, L., Bento, C., Relvas, L., Seabra, C., & Ribeiro, M. L. (2015). Anemia hemolítica hereditaria por déficit de GPI: dos nuevas mutaciones en un varón Portugués. Haematologica, 100, 34. Retrieved from http://www.haematologica.org/content/100/supplement_4#abstract-book
Guerra, M., Machado, P., Manco, L., Fernandes, N., Miranda, J., & Arez, A. P. (2015). Triosephosphate isomerase gene promoter variation:-5G/A and-8G/A polymorphisms in clinical malaria groups in two African populations. Infection Genetics and Evolution, 32, 271–279. https://doi.org/10.1016/j.meegid.2015.03.020
Gamero-Villarroel, C., Rodriguez-Lopez, R., Jimenez, M., Carrillo, J. A., Garcia-Herraiz, A., Albuquerque, D., … Gervasini, G. (2015). Melanocortin-4 receptor gene variants are not associated with binge-eating behavior in nonobese patients with eating disorders. Psychiatric Genetics, 25(1), 35–38.
Fidalgo, T., Martinho, P., Salvado, R., Manco, L., Oliveira, A. C., Pinto, C. S., … Ribeiro, M. L. (2015). Familial thrombotic risk based on the genetic background of Protein C Deficiency in a Portuguese Study. European Journal of Haematology, 95(4), 294–307. https://doi.org/10.1111/ejh.12488
Del Orbe Barreto, R., Arrizabalaga, B., De la Hoz, A. B., Tejada, I., Aragües, P., Silva, C., … Ribeiro, M. L. (2015). Utilidad de la next generation sequencing en la optimización del diagnóstico de las anemias hemolíticas congénitas. Haematologica, 100, 73. Retrieved from http://2015.sehhseth.com/publicaciones/ponencias-y-comunicaciones-seth/files/assets/common/downloads/page0081.pdf
Bento, C., Cario, H., Gardie, B., Hermouet, S., & McMullin, M. F. (2015). Congenital erythrocytosis and hereditary thrombocytosis. Clinical presentation, diagnosis, treatment and follow-uo. A pratical guide with clinical cases. Retrieved from www.cost.eu/download/BM0902
Bento, C. (2015). Novel insights on molecular characterization of congenital erythrocytosis. Provas de Doutoramento em Ciências Biomédicas: Instituto de Ciências Biomédicas Abel Salazar. Universidade do Porto.
Albuquerque, D., Stice, E., Rodriguez-Lopez, R., Manco, L., & Nobrega, C. (2015). Current review of genetics of human obesity: from molecular mechanisms to an evolutionary perspective. Molecular Genetics and Genomics, 290(4), 1191–1221. https://doi.org/10.1007/s00438-015-1015-9
Albuquerque, D., Manco, L., & Nóbrega, C. (2015). Genetics of Human Obesity. In S. I. Ahmad & S. K. Imam (Eds.), Obesity A Practical Guide (pp. 87–106). Heiderberg: Springer.
Albuquerque, D. (2015). Study of genetic variants associated with obesity in Portuguese children. Retrieved from http://hdl.handle.net/10316/28249
2014
Rodríguez-López, R., Albuquerque, D., & González, M. (2014). Heredabilidad de la Obesidad: Caso Clínico:Obesidad no asociada a discapacidad intelectual. Genética. Genética Molecular Aplicada al Diagnóstico de Enfermedades Hereditarias, 21, 14–23.
Pereira, F. (2014). Componentes para a qualidade de vida dos idosos na freguesia de Alcofra. Retrieved from http://hdl.handle.net/10316/28924
Nóbrega, C., Nascimento-Ferreira, I., Onofre, I., Albuquerque, D., Déglon, N., & de Almeida, L. P. (2014). RNA interference mitigates motor and neuropathological deficits in a cerebellar mouse model of Machado-Joseph disease. Plos One, 9(8), e100086. https://doi.org/10.1371/journal.pone.0100086.
Marques, J. (2014). Estudo epidemiológico da qualidade de vida de uma coorte de idosos em meio rural do Centro de Portugal. Retrieved from http://hdl.handle.net/10316/31090
Coucelo, M., Caetano, G., Sevivas, T., Santos, S. A., Fidalgo, T., Bento, C., … Ribeiro, M. L. (2014). JAK2V617F allele burden is associated with thrombotic mechanisms activation in polycythemia vera and essential thrombocythemia patients. International Journal of Hematology, 99(1), 32–40. https://doi.org/10.1007/s12185-013-1475-9
Bento, C., Percy, M. J., Gardie, B., Maia, T. M., van Wijk, R., Perrotta, S., … Cario, H. (2014). Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases. Human Mutation, 35(1), 15–26. https://doi.org/10.1002/humu.22448
Albuquerque, D., Estevez, M. N., Vibora, P. B., Giralt, P. S., Balsera, A. M., Cortes, P. G., … Rodriguez-Lopez, R. (2014). Novel Variants in the MC4R and LEPR Genes among Severely Obese Children from the Iberian Population. Annals of Human Genetics, 78(3), 195–207. https://doi.org/10.1111/ahg.12058
Albuquerque, D., Nobrega, C., Rodriguez-Lopez, R., & Manco, L. (2014). Association study of common polymorphisms in MSRA, TFAP2B, MC4R, NRXN3, PPARGC1A, TMEM18, SEC16B, HOXB5 and OLFM4 genes with obesity-related traits among Portuguese children. Journal of Human Genetics, 59(6), 307–313. https://doi.org/10.1038/jhg.2014.23
Albuquerque, D., Manco, L., & Nóbrega, C. (2014). Epigenetics of Human Obesity: A Link Between Genetics and Nutrition. In C. Nóbrega & R. Rodriguez-Lopez (Eds.), Molecular Mechanisms Underpinning the Development of Obesity (pp. 101–127). https://doi.org/10.1007/978-3-319-12766-8_8
Albuquerque, J. (2014). Legado Genético do Cromossoma Y . Caracterização do haplogrupo J em amostras de origem portuguesa com foco na zona centro. Retrieved from http://hdl.handle.net/10316/31095
2013
Toste, S. (2013). Análise haplotípica de mutações comuns no gene HFE associadas à Hemacromatose em Portugal. Retrieved from http://hdl.handle.net/10316/24720
Sá, R. (2013). Phylogeography, conservation genetics and parasitology of chimpanzees (Pan troglodytes versus) in Guinea-Bissau, West Africa. Retrieved from http://hdl.handle.net/10362/10605
Pereira, C. (2013). Estudo de polimorfismos associados ao aumento da expressão de Hemoglobina Fetal (HbF). Retrieved from http://hdl.handle.net/10316/24896
Nobrega, C., Nascimento-Ferreira, I., Onofre, I., Albuquerque, D., Conceição, M., Déglon, N., & de Almeida, L. P. (2013). Overexpression of mutant ataxin-3 in mouse cerebellum induces ataxia and cerebellar neuropathology. Cerebellum, 12(4), 441–455. https://doi.org/10.1007/s12311-012-0432-0
Nóbrega, C., Nascimento-Ferreira, I., Onofre, I., Albuquerque, D., Hirai, H., Déglon, N., & de Almeida, L. P. (2013). Silencing mutant ataxin-3 rescues motor deficits and neuropathology in Machado-Joseph disease transgenic mice. Plos One, 8(1), e52396. https://doi.org/10.1371/journal.pone.0052396.
Nascimento-Ferreira, I., Nóbrega, C., Vasconcelos-Ferreira, A., Onofre, I., Albuquerque, D., Aveleira, C., … Pereira de Almeida, L. (2013). Beclin 1 mitigates motor and neuropathological deficits in genetic mouse models of Machado-Joseph disease. Brain, 136(7), 2173–2188. https://doi.org/10.1093/brain/awt144.
Martiniano, R., Feitosa, Y., Abade, A., & Manco, L. (2013). Y-chromosome diversity in central Portugal reveals signatures of ancient maritime expansions. Anthropologischer Anzeiger, 70(4), 355–367. https://doi.org/10.1127/0003-5548/2013/0321
Manco, L., Pires, S., Lopes, A. I., Figueiredo, I., Albuquerque, D., Alvarez, M., … Abade, A. (2013). Distribution of the -13910C > T polymorphism in the general population of Portugal and in subjects with gastrointestinal complaints associated with milk consumption. Annals of Human Biology, 40(2), 205–208. https://doi.org/10.3109/03014460.2012.754943
Cunha, E., Bento, C., Oliveira, A., Relvas, L., Neves, J., Gameiro, M., … Ribeiro, M. L. (2013). Hb PLASENCIA alpha 125(H8)Leu -> Arg (alpha 2) Is a frequent cause of alpha(+)-Thalassemia in the Portuguese Population. Hemoglobin, 37(2), 183–187. https://doi.org/10.3109/03630269.2013.763822
Bento, C., Maia, T. M., Carvalhais, I., Moita, F., Abreu, G., Relvas, L., … Ribeiro, M. L. (2013). Transient Neonatal Cyanosis Associated With a New Hb F Variant: Hb F Viseu. Journal of Pediatric Hematology Oncology, 35(2), E77–E80. https://doi.org/10.1097/MPH.0b013e3182667be3
Bento, C., Almeida, H., Fernandez-Lago, C., & Ribeiro, M. L. (2013). Primary familial congenital erythrocytosis: two novel EPOR mutations found in Spain. International Journal of Laboratory Hematology, 35(5), E27–E28. https://doi.org/10.1111/ijlh.12061
Bento, C., Maia, T. M., Milosevic, J. D., Carreira, I. M., Kralovics, R., & Ribeiro, M. L. (2013). Beta thalassemia major due to acquired uniparental disomy in a previously healthy adolescent. Haematologica-the Hematology Journal, 98(1), e4. https://doi.org/10.3324/haematol.2012.064097
Bento, C., Almeida, H., Maia, T. M., Relvas, L., Oliveira, A. C., Rossi, C., … Ribeiro, M. L. (2013). Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?). European Journal of Haematology, 91(4), 361–368. https://doi.org/10.1111/ejh.12170
Albuquerque, D., Nobrega, C., & Manco, L. (2013). The lactase persistence -13910C > T polymorphism shows indication of association with abdominal obesity among Portuguese children. Acta Paediatrica, 102(4), e153–e157. https://doi.org/10.1111/apa.12134
Albuquerque, D., Nobrega, C., & Manco, L. (2013). Association of FTO Polymorphisms with Obesity and Obesity-Related Outcomes in Portuguese Children. Plos One, 8(1), e54370. https://doi.org/10.1371/journal.pone.0054370
2012 and previous