Genes, Populations and Disease

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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;
  2. molecular basis of haematological conditions, namely red cell enzyme deficiencies, HbF production in adults and venous thrombosis susceptibility.
  3. effect of diseases (such as malaria) on modern patterns of genetic variation;
  4. 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

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 

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)

Adolfo Moreno Márquez
Visiting Investigator / 01 May - 31 July 2018
Adolfo Moreno MárquezVisiting Investigator / 01 May - 31 July 2018

 

Doctor in History and Maritime Archaeology

 

Institutional Address: University of Cádiz, Department of History, Geography and Philosophy

Research Interests: History; Archaeology; Funeral archaeology; Forensic anthropology; Prehistory Mediterranean

Adriana Leite
Researcher
Adriana LeiteResearcher

Research group: Past Cultures and Populations

 

Institutional address: Department of Life Sciences, University of Coimbra

 

Research interests:

Biological Anthropology;

Paleodiets;

Paleopathology;

Forensic Anthropology

 

Personal URL:

https://www.researchgate.net/profile/Adriana_Leite8

https://uc-pt.academia.edu/AdrianaLeite

Alexandrina Amorim
PhD student
Alexandrina AmorimPhD student

Research group: Past cultures and populations

 

Institutional Address:

Lab2PT, Universidade do Minho

CIAS, Universidade de Coimbra

Email: alexandrina.amorim@gmail.com

 

Research interests:

  • Ancient DNA; Archaeological Chemistry; Archaeological Theory; Archaeology; Bioarchaeology; Biological Anthropology; Burial; Cemeteries; Evolutionary Anthropology; Forensic Anthropology; Forensic Archaeology; Funeral Rites; Historical Anthropology; Osteology; Palaeolithic; Paleoanthropology; Paleopathology; Prehistoric Archaeology

PhD Project:

O presente projeto pretende estudar a evolução dos espaços e rituais funerários praticados na vila fortificada de Valença desde a sua fundação medieval até ao século XIX, explorando os resultados dos trabalhos arqueológicos aí realizados nos últimos 15 anos.
Pretende-se, por um lado, clarificar a organização espacial das áreas sepulcrais associadas a cada edifício religioso, atendendo às identidades individuais, sociais e religiosas, balizando a cronologia das fases de ocupação. Por outro lado, o estudo paleoantropológico das amostras ósseas exumadas proporcionará dados sobre o modo de vida destas populações, sobre a evolução demográfica e a mobilidade da população. Procurar-se-á, ainda, correlacionar o uso funerário dos espaços com a evolução urbanística da fortificação, no sentido de identificar eventuais condicionalismos e pressões sobre os espaços funerários ao longo dos tempos e a influência nas suas organizações. Pretende-se, assim, recriar toda uma dinâmica urbanística, demográfica, funerária e de vivências de um meio militarizado.

Research Gate: https://www.researchgate.net/profile/Alexandrina_Alves/info

Alice M. Toso
Visiting Investigator / 4 to 28 February 2013
Alice M. TosoVisiting Investigator / 4 to 28 February 2013

 

 

Department of Archaeology Alice Toso

 

Alice was in Portugal financed by Lifelong Learning Programme – Sub Programme: Leonardo da Vinci – Mobility

 

 

Álvaro Monge-Calleja
PhD Student
Álvaro Monge-CallejaPhD Student

 

Research group: Past cultures and populationss200__lvaro.monge_calleja

Institutional Address:

Departamento de Ciências da Vida

Centro de Investigação em Antropologia e Saúde

Email: manu_alvaro16@hotmail.com

 

Research interests:

Physical Anthropology; Osteology; Bioarchaeology; Forensic Anthropology; Skeletal Biology; Paleopathology; Paleoanthropology; Forensic Archaeology; Human Anatomy; Forensics; Bone Biology; Skeletal Development; Anthropology; Skeleton; Osteoarchaeology

Personal URL:

https://coimbra.academia.edu/%C3%81lvaroMongeCalleja

https://www.researchgate.net/profile/Alvaro_Monge3

Ana Cláudia Lourenço
Researcher
Ana Cláudia LourençoResearcher

Research Group: Human Biology, Health and Society

Ana González Ruiz
Visiting Investigator / 01 February - 30 April 2019
Ana González RuizVisiting Investigator / 01 February - 30 April 2019

Universidad Autónoma de Madrid (2017-2018)

Master’s degree, Antropología Física: Evolución y Biodiversidad Humanas

 

Bournemouth University (2014-2017)

Archaeological, Anthropological and Forensci Sciences (BSc) (Hons), First class honours

 

Research interests: Archaeological, Anthropological and Forensic Sciences

Ana González Ruiz
Researcher
Ana González RuizResearcher

Research group: Past Cultures and Populations

Institutional Address:

 

Research interests:

  • Archaeology
  • Anthropological and Forensic Sciences
  • Paleopathology
  • Physical Anthropology
  • Bioarchaeology
  • Osteology
  • Stable Isotope Analyses
  • Funerary practices

Personal URL:

Orcid: orcid.org/0000-0002-4698-3343

Ana Luísa Santos
Assistant Professor
Ana Luísa SantosAssistant Professor

 

ALSantos

Research group: Past Cultures and Populations

 

Institutional Address: Department of Life Sciences

E-mail: alsantos@antrop.uc.pt

Phone number: +351 239 240 718

 

Research interests: 

  • Biological Anthropology; Paleopathology, History of diseases, Funerary Anthropology.
  • Skeletal Biology, Age-at- death, Paleodemography.
  • Pre-Columbian Caribbean.
  • Multidisciplinary approach to the study of human skeletal remains, articulating data
    obtained directly from macroscopic and radiological observations with information
    from secondary sources, such as documents, archives and iconographies.
  • The study of health in past populations in particular the spread of infectious diseases, as
    a consequence of migration, socioeconomic changes and wars.
  • Evolution of diagnosis, therapeutic and prevention of diseases in the last millennia such
    as the changes of behaviours and exclusion of patients from society.

 

Personal URL:

https://www.cienciavitae.pt/portal/F114-E8BE-5FEC

http://www.uc.pt/fctuc/dcv/pessoas/docentes/a_santos/index

http://orcid.org/0000-0001- 6073-1532

http://www.scopus.com/authid/detail.url?authorId=13204856100

https://scholar.google.com/citations?user=pzdUetYAAAAJ&hl=pt-PT

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

https://coimbra.academia.edu/AnaLuisaSantos

http://www.degois.pt/visualizador/curriculum.jsp?key=3477900544307421

Researcher ID: A-1128- 2010

 

 

Ana Maria Silva
Assistant Professor
Ana Maria SilvaAssistant Professor

 

Research group: Past Cultures and Populations

Institutional Address: Department of Life Sciences

E-mail: amgsilva@antrop.uc.pt

 

Personal URL:

ResearchGate: https://www.researchgate.net/profile/Ana_Silva44

Academia: https://coimbra.academia.edu/AnaMariaSilva

DeGóis: http://www.degois.pt/visualizador/curriculum.jsp?key=8719481131162428

Orcid: https://orcid.org/0000-0002-1912-6581
ResearcherID: E-6281-2015
Scorpus Author ID: 55939389400

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:
Ana Rita Sampaio
Researcher
Ana Rita SampaioResearcher

Research group: Past Cultures and Populations

Institutional Address:

Department of Life Sciences, University of Coimbra

Mestrado em Evolução e Biologia Humanas

Research interests:

  • biological anthropology
  • paleopathology
  • archeology

Personal URL:

Ana Rufino
PhD student
Ana RufinoPhD student

Research group: Past Cultures and Populationsfoto-cias

Institutional Address:

CIAS – Centro de Investigação em Antropologia e Saúde

Email: anaisabelrufino@gmail.com

 

Research interests:

Dental Anthropology

Paleopathology

 

Personal URL:

Ana Seabra
PhD Student
Ana SeabraPhD Student

 

Research group: Past Cultures and Populationsana seabra

 

 

Email: asbr73@gmail.com

Research interests:

  •  Anthropological databases and preservation of anthropological field reports and information
  • Terminology in Bioarchaeology
  • Mortuary practices of Past Populations
  • Paleobiology

 

Personal URL:

https://orcid.org/0000-0003-3721-8313

https://independent.academia.edu/anaseabra

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

Ángel Fernández Aparicio
Visiting Investigator / 01 May - 31 July 2021
Ángel Fernández AparicioVisiting Investigator / 01 May - 31 July 2021

Ángel Fernández Aparicio is a predoctoral Spanish researcher who currently works in the department of Nursing at the University of Granada. The topics of his research is the analyses of body composition, somatometry, nutritional habits and lifestyles in adolescents with obesity and metabolic syndrome. His PhD project is “Postprandial transport of Oleanolic acid in adolescents and its therapeutic action on THP-1 monocytes-macrophages”. He has a University degree in Nursing and a Master degree in Health Care for the promotion of personal autonomy and attention to end-of-life processes.

Institutional Address:

Department of Nursing, Faculty of Health Sciences, University of Granada, Av. Ilustración 60, 18016, Granada (Spain)

Research Interests:

Anthropometry; Body composition; Metabolic syndrome; Obesity; Adolescents; Nutritional habits; Prevention and treatment; Health care

Personal URL:

https://www.researchgate.net/profile/Angel-Fernandez-Aparicio

https://orcid.org/0000-0002-1298-8349

Ángel Rubio Salvador
Visiting Investigator / 04 June - 04 August 2018
Ángel Rubio SalvadorVisiting Investigator / 04 June - 04 August 2018

Institutional Address: PhD Student of Department of Legal Medicine, Toxicology and Physical Anthropology, University of Granada.

Research Interests: Prehistory, Archaeology, Anthropology and Paleopathology.

Anna Bini
Visiting Investigator / 4 February - 4 June 2019
Anna BiniVisiting Investigator / 4 February - 4 June 2019
Ph.D. Student
Doctoral School of Archaeology, History and Human Sciences (Doctoral programme in Archaeology)
Department of History, Human Sciences and Education
University of Sassari
Research interests: Physical anthropology; Paleopathology; Bioarchaeology; Archaeology
Ariene Silva do Carmo
Visiting Investigator / 26 November 2018 - 26 February 2019
Ariene Silva do CarmoVisiting Investigator / 26 November 2018 - 26 February 2019

Doutoramento em Ciências da Saúde-Saúde da Criança e do Adolescente

Institutional Address: Faculdade de Medicina da Universidade Federal de Minas Gerais

Research Interests: Childhood Obesity, Neighborhoods and Health, Nutritional Epidemiology.

 

Plataforma Lattes:

http://lattes.cnpq.br/8634950985711897

Aristides Machado-Rodrigues
Researcher
Aristides Machado-RodriguesResearcher

 

Research group: Human Biology, Health and SocietyARodrigues

Institutional Address: Department of Life Sciences

Email: rodriguesari@hotmail.com

 

Research interests:

Biological, social and geographic determinants of health, and behavioural features of the lifestyle of our populations (i.e. sedentary behaviour, physical activity and nutritional habits) and how these variables may modify health-related quality of life.

 

Projects:

Inequalities in childhood obesity: the impact of the socioeconomic crisis in Portugal from 2009 to 2015 (PTDC/DPT-SAP/1520/2014)

 

Personal URL:

https://www.researchgate.net/profile/Aristides_Machado-Rodrigues

http://www.degois.pt/visualizador/curriculum.jsp?key=1449522783040933

https://orcid.org/0000-0002-7169-8034

https://www.cienciavitae.pt/B91A-A908-10A9

Augusta Gama
Assistant Professor
Augusta GamaAssistant Professor

Research group: Human Biology, Health and Society

 

Institutional Address: Departamento de Biologia Animal,
Faculdade de Ciências, Universidade de Lisboa

Email: augusta.gama@fc.ul.pt
Phone number: + 351 217 500000
Research interests:
Causes for children and adolescent obesity: infancy factors; socioeconomic, familiar and physical environmental factors; lifestyles and psychosocial factors.
Obesity and age at menarche.

 

Ongoing Projects:

Inequalities in childhood obesity: the impact of the socioeconomic crisis in Portugal from 2009 to 2015 (PTDC/DPT-SAP/1520/2014)
The economic crisis and malnutrition in children and older adults: a pilot study in the municipality of Lisbon. FMH-UL, FC-UL, IHMT-UNL, ULHT

 

Personal URL:

http://www.researcherid.com/rid/N-1657-2015
http://orcid.org/0000-0003-2143-8602

https://www.cienciavitae.pt/F01B-AD14-A8B1
https://ciencias.ulisboa.pt/perfil/maantunes

Barbara Eduarda Abreu
Visiting Investigator / 30 March - 29 May 2019
Barbara Eduarda AbreuVisiting Investigator / 30 March - 29 May 2019

Archaeology student

Institutional Address: Universidade Federal do Piauí (UFPI)- Teresina Piauí

Research interests: Archaeology, Biological Anthropology and Archaeology

Bárbara Mazza
Visiting Investigator / 04 April - 26 June 2018
Bárbara MazzaVisiting Investigator / 04 April - 26 June 2018

The main objective of my visit was to analyze markers of occupational stress in human bones from Mesolithic and Neolithic periods. For that purpose I got trained in the Coimbra Method to register entheseal changes and I have also learned new methods such as how to get periosteal mouldings of diaphyses to access geometric properties of long bones and to measure the rotational efficiency of the radius and humerus.

Research Interest: Archaeology; Funerary Archaeology; Musculoskeletal Biomechanics; Funerary Practices; Paleopathology

Institutional Address: CONICET – Instituto Nacional de Antropología y Pensamiento Latinoamericano (INAPL), Buenos Aires, Argentina

Bruno M. Magalhães
Researcher
Bruno M. MagalhãesResearcher

 

Research group: Past Cultures and Populations DSCF4231

 

Institutional Address: Research Centre for Anthropology and Health, Department of Life Sciences, University of Coimbra

Email: bruno.miguel.silva.magalhaes@gmail.com

 

Research interests:

Paleopathology; Funerary Anthropology; Archeology; Human Evolution.

 

Personal URL:

https://orcid.org/0000-0002-1596-5193

https://www.cienciavitae.pt/D810-E6D9-65E8

https://www.researchgate.net/profile/Bruno_M_Magalhaes2?

 

 

Carina Marques
Researcher
Carina MarquesResearcher

Research group: Past Cultures and Populations

 

Institutional Address:

CIAS – Research Centre for Anthropology and Health

 

Email: anac@ci.uc.pt

 

Research interests:

  • Excavation
  • Diagnosis
  • Paleopathology
  • Osteology
  • Bioarchaeology
  • Physical Anthropology
  • Skeletal Biology
  • Forensic Anthropology
  • Epidemiology
  • Archaeology
  • Pathology
  • Dental Caries
  • Epidemiological Surveys
  • Radiocarbon Dating

 

Personal URL:

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

https://www.cienciavitae.pt/691C-63F3-A4C4

https://independent.academia.edu/CarinaMarques2

https://orcid.org/0000-0002-6427-6554

 

Catarina Casanova
Associated Professor
Catarina CasanovaAssociated Professor

Research group: Past Cultures and Populations

 

Institutional Address:

ISCSP, Campus Universitário do Alto da Ajuda, Rua Almerindo Lessa, 1300-663 Lisboa

Email: ccasanova2009@gmail.com

 

Research interests:

My research areas are on primate behaviour, ecology and conservation. I also conduct research on human/non-human interface (animal studies) and multi-species ethnography.

 

Personal URL:

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

https://www.cienciavitae.pt/portal/111E-626B-89DC

https://scholar.google.pt/citations?hl=en&user=eV8_gAwAAAAJ&view_op=list_works&gmla=AJsN-F4JERRQu0HC6qYPj08W0lhhIsYVoKJdEnx30TBNyJsjWZ2sNINo5cRmg-JUb1xmecNvmws8d89MQmFwI-6pX3tq_el6mPbsc-pGOSjF-yJYhxrGHic

https://ulisboa.academia.edu/CatarinaCasanova

https://orcid.org/0000-0003-2123-0262

Cátia Delicado
PhD Student
Cátia DelicadoPhD Student

Research group: Past Cultures and Populations

Institutional Address:

UNIARQ-Centro de Arqueologia da Universidade de Lisboa

CIAS-Centro de Investigação em Antropologia e Saúde da Universidade de Coimbra

Email: delicadocs@gmail.com

Research interests:

  • Funerary Archaeology
  • Isotope analysis
  • aDNA
  • Archaeothanatology

Personal URL:

Academia: https://independent.academia.edu/catiadelicado

Researchgate: https://www.researchgate.net/profile/Catia-Saque-Delicado

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

Célia Lopes
Post-Doc Researcher
Célia LopesPost-Doc Researcher

Research group: Past Cultures and Populations

Institutional Address:11143090_10204810106031568_5846696469997212767_n

Research Centre for Anthropology and Health (CIAS)

Department of Life Sciences

Email: lopesc@ci.uc.pt

 

Research interests:

The main research interest focuses on:

  • the study of populations of the past;
  • paleopathology, in particular the spread of infectious diseases and their impact on human skeleton;
  • History of diseases, evolution of diagnosis, therapeutic and prevention;
  • Funerary Anthropology.

 

Ongoing Projects:

“A transição epidemiológica no interior de Portugal continental contada através dos ossos. Estudo demográfico e paleopatológico da coleção identificada de Évora.” – Investigação de pós-doutoramento financiada pela Fundação para a Ciência e Tecnologia (SFRH/BPD/117128/2016)

 

Personal URL:

Orcid: https://orcid.org/0000-0002-7408-680X

DeGóis: http://www.degois.pt/visualizador/curriculum.jsp?key=9747598328292698

ResearchGate: https://www.researchgate.net/profile/Celia_Lopes2

Academia: https://coimbra.academia.edu/C%C3%A9liaLopes

 

Charlotte Y. Henderson
Post-Doc Researcher
Charlotte Y. HendersonPost-Doc Researcher

 

Research group: Past Cultures and Populations

 

Institutional Address: CIAS – Research Centre for Anthropology and Health
Email: c.y.henderson@uc.ptcharlotte

 

Research interests:
My research interests focus on occupational disease and injury in past populations, predominantly in terms of their identification, but also their impact on the individual and the societies in which they lived.
This research focus stems from my studies of entheseal changes, widely used to study occupation in past societies. I continue to work on recording methods and the interpretation of data for these. I am also the leader of the working group on methodology set up after the Workshop on MSM, Coimbra 2009.

 

Ongoing Projects:
2012 – now. Postdoctoral research funding: Fundação para a Ciência e a Tecnologia (FCT) SFRH/BPD/82559/2011. Title. Identifying occupation: a test using identified skeletal collections.

Closed Projects:
March 2013 – October 2013. Wenner-Gren Workshop Grant CONF-632. Grant to organise a workshop in Coimbra in July 2013 for the working groups on entheseal changes. Investigators: Dr S. Villotte, Dr C. Henderson, Dr F. Alves Cardoso and Dr G Perreard-Lopreno. Title. “Entheseal changes and reconstruction of human behavior: towards standardization”. Budget $11 397.January 2013 – October 2013. Wolfson Research Institute Small Grant. Exploratory grant for 9 months with start date January 2013. Principal Investigator. Dr G. King and co-investigators Dr
C Henderson and Dr R Gowland. Title. “The ecology of disease: using ELISA to test for seronegative spondyloarthropathies and their triggers in an archaeological context.” Budget £1000.
Cidália Duarte
Researcher
Cidália DuarteResearcher

Research Group: Past Cultures and Populations

Cinzia Roggio
Visiting Investigator / 19 March to 30 June 2018
Cinzia RoggioVisiting Investigator / 19 March to 30 June 2018

Dipartimento di Storia, Scienze dell’Uomo e della Formazione, University Degli Studi di Sassari, Itália

 

Research Interests:

  • Archaeology
  • Bioarchaeology
  • Paleopathology
  • Osteology
Cláudia Aranda
Visiting Investigator / July to November 2013 & 11 July - 10 November 2018
Cláudia ArandaVisiting Investigator / July to November 2013 & 11 July - 10 November 2018

 

Director of the area of Biological Anthropology of the Ethnographic Museum J. B. Ambrosetti of Buenos AiresAranda.contenido

 

 

In collaboration with CIAS:

Prácticas mortuorias y paleopatología en sociedades cazadoras recolectoras del holoceno

Cláudia Cunha
Researcher
Cláudia CunhaResearcher

 

Research group: Past Cultures and Populations s200_claudia.cunha
Institutional Address:

Coordenadora do Programa de Pós-graduação em Arqueologia

Centro de Ciências da Natureza – Universidade Federal do Piauí

Centro de Antropologia e Saúde, Universidade de Coimbra

Research interests:
  • Prehistory; Neolithic Archaeology; Chalcolithic; Chalcolithic populations; Bronze Age
  • Bioarchaeology; Paleoanthropology; Osteology; Dental Anthropology; Anthropology; Osteoarchaeology; Archaeology; Paleopathology; Taphonomy; Physical Anthropology
  • Mummies; Burial; Cemeteries; Cremation; Ceremonial Behaviour
  • Age Determination by Teeth; Non-dietary use of teeth
  • Industry on human bones; Skeletal Development; anatomical landmarks
  • Heritage; Culture
Personal URL:

https://orcid.org/0000-0002-5073-1704

http://lattes.cnpq.br/0118790752175306

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

http://buscatextual.cnpq.br/buscatextual/visualizacv.do?id=K4184231T0 
Cláudia Ferreira
Researcher
Cláudia FerreiraResearcher

Research group: Human Biology, Health and Society

 

Institutional Address:

Cognitive-Behavioral Center for Research and Intervantion (CINEICC), Coimbra

FPCEUC, University of Coimbra, Portugal

E-mail: claudiaferreira@fpce.uc.pt

 

Research interests:

  • Psychopathology,
  • ACT,
  • Mindfulness,
  • Eating Behaviours
Personal URL:
https://orcid.org/0000-0002-7020-9606
Cláudia Umbelino
Assistant Professor
Cláudia UmbelinoAssistant Professor
Research group: Past Cultures and Populations

Institutional Address:
Departamento de Ciências da Vida da Universidade de Coimbra
Phone number: +351 239 240 729
Email: umbelino@antrop.uc.pt
Research interests:
  • Paleodiets
  • Osteology
  • Prehistory
  • Bioarchaeology
  • Paleoanthropology
  • Archaeology
  • Paleopathology
  • Physical Anthropology
  • Excavation
  • Anthropology
  • Forensic Anthropology
  • Prehistoric Archaeology
  • Skeletal Biology
  • Human Evolution
  • Forensic Archaeology
  • Taphonomy
  • Dental Anthropology
  • Evolutionary Anthropology
  • Odontology
  • Archaeological Chemistry
Personal URL:
Claudina González
Visiting Investigator / 18 june - 13 september 2018
Claudina GonzálezVisiting Investigator / 18 june - 13 september 2018

Institutional Address: Universidad Nacional de Córdoba, Argentina

Research Interest: Dental Anthropology, Paleopathology, Forensic Anthropology.

CONICET

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

 

Cristina Padez
CIAS Coordinator; Group Coordinator; Senior Lecture
Cristina PadezCIAS Coordinator; Group Coordinator; Senior Lecture

 

Research group: Human Biology, Health and Society (Group Coordinator)CPadez

Institutional Address: Department of Life Sciences

E-mail: cpadez@antrop.uc.pt

Phone number: + 351 239 240721

 

Research interests:

Childhood obesity and their association with social, familiar and environmental factos.

Socioeconomic status and Sedendary behaviors and their association with childhood obesity.

 

Ongoing Projects:

Inequalities in childhood obesity: the impacto f the socioeconomic crisis in Portugal

from 2009 to 2015 (PTDC/DPT-SAP/1520/2014)

 

Personal URL

https://orcid.org/0000-0002-1967-3497

https://publons.com/researcher/2754551/cristina-padez-m-padez/

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

http://coimbra.academia.edu/CristinaPadez/

http://www.degois.pt/visualizador/curriculum.jsp?key=4469147301938421

Curriculum Vitae

 

Cynthia Netto
Visiting Investigator / 6-20 september 2015
Cynthia NettoVisiting Investigator / 6-20 september 2015

Doutoranda da Universidad de Buenos Aires, Argentina

Cynthia Wilczak
Visiting Investigator / 5-19 July, 2016
Cynthia WilczakVisiting Investigator / 5-19 July, 2016

 

Wilczak

PhD

Research Interests: 

  • Skeletal Markers of Occupational Stress
  • Bioarchaeology
  • Paleopathology
  • Forensic Anthropology

 

In collaboration with CIAS:

Is a Picture Really Worth a Thousand Words? Interobserver Reliability in Qualitative Scoring of Skeletal Morphology

Quantification of Entheses and 3-Dimensional Scanning: Useful Tools or High-Tech Toys?

Working your fingers to the bone

 

 

San Francisco State University

 

Daniel Fernandes
Researcher
Daniel FernandesResearcher

Research group: Past cultures and populations

 

Institutional Address:

Department of Evolutionary Anthropology, University of Vienna
Althanstrasse 14
1090 Vienna, Austria
Email: daniel.fernandes@univie.ac.at

 

Research interests:

The study of the human past is my broadest professional interest. Specifically, I focus on the genomics of ancient human populations by directly accessing their DNA. The main questions I research about are migrations, population affinities, and trait selection, with an interest in the Neolithic and Bronze population movements in Southern Europe and the Mediterranean islands. Methodological experimentation, protocols development, and optimization of existing ones for ancient DNA is also a topic I work on extensively.

 

Personal URL:

https://www.researchgate.net/profile/Daniel_Fernandes9

https://at.linkedin.com/in/daniel-fernandes-5a932a44

http://www.ucd.ie/archaeology/research/phd/daniel_fernandes/

https://orcid.org/0000-0002-7434-6552

 

Daniel Fidalgo
PhD Student
Daniel FidalgoPhD Student

 

Research group: Past cultures and populations

 

Institutional Address: Research Centre for Anthropology and Health (CIAS), Department of Life Sciences

Email: danielfidalgo15@gmail.com

 

Research interests:

  • Physical Anthropology
  • Palaeolithic
  • Paleopathology
  • Prehistoric Archaeology
  • Archaeology
  • Social and Cultural Anthropology
  • Experimental Archaeology
  • Forensic Archaeology
  • Landscape Archaeology
  • Archaeological Prospection
  • Excavation
  • Theoretical Archaeology

 

Personal URL:

https://orcid.org/0000-0001-7175-1686

https://coimbra.academia.edu/DanielFidalgo

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

 

Daniel García Rivero
Assistant Professor
Daniel García RiveroAssistant Professor

Research group: Past Cultures and Populations

 

Institutional Address:

Department of Prehistory and Archaeology,

C/ Doña María de Padilla, s/n, 41004, Seville (Spain)

Email: garciarivero@us.es

 

Research interests:

  • Anthropology,
  • Archaeology,
  • Cultural evolution,
  • Prehistory,
  • Systematics

 

Personal URL:

https://orcid.org/0000-0002-6112-3181

http://personal.us.es/garciarivero/

http://us.academia.edu/DanielGarciaRivero

 

Daniela Rodrigues
Researcher
Daniela RodriguesResearcher

 

Research group: Human Biology, Health and Society 13589188_1009523232450739_1938951175_o

 

Institutional Address:

CIAS – Research Centre for Anthropology and Health.

Department of Life Sciences, Faculty of Science and Technology. University of Coimbra.

Email: rodrigues1323@gmail.com

 

Research interests:

Human behaviour; Gender stereotypes on sport; Childhood obesity; Prevalence and trends of obesity;

Physical environment; Socio-Ecological Model; Physical activity; Sport participation

 

Personal URL:

http://www.degois.pt/visualizador/curriculum.jsp?key=9197269550711097

https://www.researchgate.net/profile/Daniela_Rodrigues27

https://orcid.org/0000-0002-4559-4303

CIÊNCIA ID EE14-4C6E-F893

Danúbia Rodrigues de Lima Moraes
PhD Student
Danúbia Rodrigues de Lima MoraesPhD Student

Research group: Past cultures and populations

 

Institutional Address: Núcleo de Pesquisa e Estudos Arqueológicos e Históricos (NUPEAH) da Universidade Federal de Alagoas and Research Centre for Anthropology and Health

Email: danubia.rodrigues2@gmail.com

 

Research interests:

  • Oral paleopathology
  • Paleodiets
  • Funerary practices

 

Personal URL:

https://www.escavador.com/sobre/6349504/danubia-valeria-rodrigues-de-lima

http://buscatextual.cnpq.br/buscatextual/visualizacv.do?id=K4231688A2

Dany Coutinho Nogueira
Post-Doc Researcher
Dany Coutinho NogueiraPost-Doc Researcher

Research group: Past cultures and populations

Institutional Address:

Research Centre for Anthropology and Health (CIAS), Department of Life Sciences, University of Coimbra

Email: dany.coutinhonogueira@gmail.com

Research interests:

  • Paleoanthropology and Human Evolution
  • Modern humans and Neanderthals paleobiology
  • Bioarchaeology of hunter-gatherers
  • Paleopathology and taphonomy (ante-mortem vs post-mortem bone modifications)
  • Paleoimaging (X-ray, CT-scan, μCT scan)

Post-Doc researcher funded by the Fyssen Foundation to study the cranial diversity of Mesolithic individuals from Muge and Sado estuary, using paleoimaging.

Personal URL:

Ciência ID:  7F1F-FFA7-445F

Orcid: https://orcid.org/0000-0002-1760-165X

Ciência Vitae: https://www.cienciavitae.pt//7F1F-FFA7-445F

Research Gate: https://www.researchgate.net/profile/Dany-Coutinho-Nogueira

Publons/Web of Science Researcher ID: L-2199-2019

 

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

David Gonçalves
Post-Doc Researcher
David GonçalvesPost-Doc Researcher

 

Research group: Past Cultures and Populations DGoncalves

 

Institutional Addresses:

a) Archaeosciences Laboratory, Directorate General for Cultural Heritage (LARC/CIBIO(InBIO)
b) Research Centre for Anthropology and Health
c) Laboratory of Forensic Anthropology – Center for Functional Ecology

Email: davidmiguelgoncalves@gmail.com

 

Research interests:

I have a special interest in Human Bioarchaoelogy, Forensic Anthropology and Chemical Anthropology with a special focus on ancient cremations and burned bones. I am currently coordinating the HOT Project. The main objectives are to improve our understanding of heat-induced changes to bone and teeth and to improve analytical methods that are specific to burned skeletal remains.

 

Personal URL:

http://hotbones.net/

https://cibio.up.pt/people/details/davidgonc

https://coimbra.academia.edu/DGon%C3%A7alves

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

http://www.degois.pt/visualizador/curriculum.jsp?key=5597260311810934

https://orcid.org/0000-0002-0607-5631

https://publons.com/researcher/520124/david-goncalves/

Researcher ID: I-8816-2012

CIENCIA ID: 4A15-E556-7CDF

Diogo Costa
Researcher
Diogo CostaResearcher

Research group: Human Biology, Health and Society

 

Institutional Address: Centro de Investigação em Antropologia e Saúde da Universidade de Coimbra

Research interests:
  • Socioeconomic inequalities
  • Mental health
  • Vulnerable groups
  • Interpersonal violence

 

Personal URL:

https://www.cienciavitae.pt/2619-D3E8-5BC8

https://orcid.org/0000-0001-9696-7088

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

Dulce Neves
Researcher
Dulce NevesResearcher

Research group: Past Cultures and Populations

 

Institutional address: Department of Life Sciences

 

Research interests:

  • Biological and forensic anthropology;
  • Dental anthropology;
  • Funerary anthropology;
  • Paleopathology;
  • History of diseases

 

Personal URL:

http://orcid.org/0000-0002-8796-9652

https://uc-pt.academia.edu/DulceNeves

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
Raquel Frias
Researcher
Raquel FriasResearcher

Research group: Genes, Populations and Diseases

Institutional Address:

University of Coimbra

Mestrado em Biologia Celular e Molecular – Universidade de Coimbra

Research interests:

  • Genetics;
  • Genomics;
  • Proteomics;
  • NGS;
  • WGS;
  • Epigenetics;
  • Erythrocytosis;
  • Molecular hematology;
  • Cancer;
  • Hereditary diseases

Personal URL:

https://www.linkedin.com/in/raquel-frias/

http://lattes.cnpq.br/0953104752569518

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., 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
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
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
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., 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
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. 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., 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
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., 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
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
Lenglet, M., Robriguet, F., Schwarz, K., Camps, C., Couturier, A., Hoogewijs, D., Buffet, A., Knight, S., Gad, S., Couvé, S., Chesnel, F., Pacault, M., Lindenbaum, P., Job, S., Dumont, S., Besnard, T., Cornec, M., Dreau, H., Pentony, M., … 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., 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].
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.
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
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., 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
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.
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
2017
Martiniano, R., Cassidy, L. M., Ó’Maoldúin, R., McLaughlin, R., Silva, N. M., Manco, L., Fidalgo, D., Pereira, T., Coelho, M. J., Serra, M., Burger, J., Parreira, R., Moran, E., Valera, A. C., Porfirio, E., Boaventura, R., Silva, A. M., & 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., Macedo, S., Darragi, I., Boudriga, I., Chaouachi, D., Fitouri, Z., Van Wijk, R., Ribeiro, M. L., & 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., Flores, I., & 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., Coucelo, M., Manco, L., Maia, T., Mendes, M. J., Barreto, R. O., Corrales, I., Vidal, F., & 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., Duarte, M., Salvado, R., & 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., Sevivas, T., Catarino, C., & 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. 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). Springer International Publishing. 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., Seabra, C., Maia, T. 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., Villegas, A., & 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., van Wijk, R., WGS500 Consortium, Ratcliffe, P. J., Robbins, P. A., & 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., Silvestre, M. J., & 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, T. D. Bird, N. Ledbetter, H. C. Mefford, R. J. H. Smith, & K. Stephens (Eds.), GeneReviews® (pp. 1993–2017). University of Washington. 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., Adan, R., Manco, L., Macedo-Ribeiro, S., Bento, C., & 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., Fidalgo, T., Bento, C., Manco, L., & 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. 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. GPD. https://doi.org/10.1007/s12041-015-0510-4
Taylor, J. C., Martin, H. C., Lise, S., Broxholme, J., Cazier, J. B., Rimmer, A., Kanapin, A., Lunter, G., Fiddy, S., Allan, C., Aricescu, A. R., Attar, M., Babbs, C., Becq, J., Beeson, D., Bento, C., Bignell, P., Blair, E., Buckle, V. J., … 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., Relvas, L., Cunha, E., McMullin, M. F., & 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. Departamento de Ciências da Vida da Faculdade de Ciências e Tecnologia da Universidade de Coimbra [Orientação Professora Sofia Wasterlain e Doutor Licínio Manco]. 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. 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., Flores, I., & 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., Goncalves, E., Marques, D., Sevivas, T., Martins, N., & 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. GPD. https://doi.org/10.1111/ejh.12488
Del Orbe Barreto, R., Arrizabalaga, B., De la Hoz, A. B., Tejada, I., Aragües, P., Silva, C., Almeida, H., Fidalgo, T., Bento, C., Manco, L., García Ruiz, J. C., & Ribeiro, M. L. (2015). Utilidad de la next generation sequencing en la optimización del diagnóstico de las anemias hemolíticas congénitas. Haematologica, 100, 73. 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. COST (European Cooperation in Science and Technology); GPD. www.cost.eu/download/BM0902
Bento, C. (2015). Novel insights on molecular characterization of congenital erythrocytosis. 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). Springer.
Albuquerque, D. (2015). Study of genetic variants associated with obesity in Portuguese children. Departamento de Ciências da Vida da Faculdade de Ciências e Tecnologia da Universidade de Coimbra [Orientação Doutor Licínio Manco; Professor Clévio Nóbrega e Professora Raquel Rodríguez-López]. 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. Departamento de Ciências da Vida da Faculdade de Ciências e Tecnologia da Universidade de Coimbra [Orientação Professora Manuela Alvarez e Professor Fernando Florêncio]; GPD. 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. Departamento de Ciências da Vida da Faculdade de Ciências e Tecnologia da Universidade de Coimbra [Orientação Professora Manuela Alvarez e Professora Helena Nogueira]; HBHS. http://hdl.handle.net/10316/31090
Coucelo, M., Caetano, G., Sevivas, T., Santos, S. A., Fidalgo, T., Bento, C., Fortuna, M., Duarte, M., Menezes, 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. GPD. https://doi.org/10.1007/s12185-013-1475-9
Bento, C., Percy, M. J., Gardie, B., Maia, T. M., van Wijk, R., Perrotta, S., Della Ragione, F., Almeida, H., Rossi, C., Girodon, F., Astrom, M., Neumann, D., Schnittger, S., Landin, B., Minkov, M., Maria, L. R., Richard, S., Casadevall, N., Vainchenker, W., … Cario, H. (2014). Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases. Human Mutation, 35(1), 15–26. GPD. https://doi.org/10.1002/humu.22448
Albuquerque, D., Estevez, M. N., Vibora, P. B., Giralt, P. S., Balsera, A. M., Cortes, P. G., Lopez, M. J., Luego, L. M., Gervasini, G., Hernandez, S. B., Arroyo-Diez, J., Vacas, M. A., Nobrega, C., Manco, L., & 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. GPD. 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. GPD. 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). Springer. 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. Departamento de Ciências da Vida da Faculdade de Ciências e Tecnologia da Universidade de Coimbra [Orientação Doutor Licínio Manco]. http://hdl.handle.net/10316/31095
2013
Toste, S. (2013). Análise haplotípica de mutações comuns no gene HFE associadas à Hemacromatose em Portugal. Departamento de Ciências da Vida da Faculdade de Ciências e Tecnologia da Universidade de Coimbra [Orientação Professor Augusto Abade e Doutor Licínio Manco]. http://hdl.handle.net/10316/24720
Sá, R. (2013). Phylogeography, conservation genetics and parasitology of chimpanzees (Pan troglodytes versus) in Guinea-Bissau, West Africa. Faculdade de Ciências Sociais e Humanas; Universidade Nova de Lisboa [Orientação:  Cláudia Sousa e Michael W. Bruford]. http://hdl.handle.net/10362/10605
Pereira, C. (2013). Estudo de polimorfismos associados ao aumento da expressão de Hemoglobina Fetal (HbF). Departamento de Ciências da Vida da Faculdade de Ciências e Tecnologia da Universidade de Coimbra [Orientação Professor Augusto Abade e Doutor Licínio Manco]. 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., Hirai, H., Déglon, N., & 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. GPD. https://doi.org/10.1127/0003-5548/2013/0321
Manco, L., Pires, S., Lopes, A. I., Figueiredo, I., Albuquerque, D., Alvarez, M., Rocha, J., & 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. GPD. https://doi.org/10.3109/03014460.2012.754943
Cunha, E., Bento, C., Oliveira, A., Relvas, L., Neves, J., Gameiro, M., Barros, C., Araujo, A., Macedo, A., Rocha, P., Costa, R., Maia, T., & 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. GPD. https://doi.org/10.3109/03630269.2013.763822
Bento, C., Maia, T. M., Carvalhais, I., Moita, F., Abreu, G., Relvas, L., Pereira, A., Neves, J. F., & 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. GPD. 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. GPD. 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. GPD. https://doi.org/10.3324/haematol.2012.064097
Bento, C., Almeida, H., Maia, T. M., Relvas, L., Oliveira, A. C., Rossi, C., Girodon, F., Fernandez-Lago, C., Aguado-Diaz, A., Fraga, C., Costa, R. M., Araujo, A. L., Silva, J., Vitoria, H., Miguel, N., Silveira, M. P., Martin-Nunez, G., & 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. GPD. 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. GPD. 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. GPD. https://doi.org/10.1371/journal.pone.0054370
2012 and previous