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Articles (33)
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Sickle cell disease severity scoring: a yet unsolved problem

Coelho, Andreia, Dias, Alexandra, Morais, Anabela, Nunes, Baltazar, Faustino, Paula, Lavinha, João

Journal:

European Journal of Haematology

Année:

2012

Langue:

english

Fichier:

PDF, 99 KB

english, 2012

Phylogeographic Analysis of Haplogroup E3b (E-M215) Y Chromosomes Reveals Multiple Migratory Events Within and Out Of Africa

Fulvio Cruciani, Roberta La Fratta, Piero Santolamazza, Daniele Sellitto, Roberto Pascone, Pedro Moral, Elizabeth Watson, Valentina Guida, Eliane Beraud Colomb, Boriana Zaharova, João Lavinha, Giusepp

Journal:

The American Journal of Human Genetics

Année:

2004

Langue:

english

Fichier:

PDF, 1.18 MB

english, 2004

Combined effect of two different polymorphic sequences within the β globin gene cluster on the level of HbF

Gonçalves, Isabel, Ducrocq, Rolande, Lavinha, João, Nogueira, Paulo J., Peres, M. João, Picanço, Isabel, Correia, Esmeraldina, Reis, Ana Batalha, Silva, Candido, Krishnamoorthy, Rajagopal, Almeida, Le

Journal:

American Journal of Hematology

Année:

1998

Langue:

english

Fichier:

PDF, 99 KB

english, 1998

β-Thalassaemia in Cubans: Novel allele increases the genetic diversity at theHBB locus in the Caribbean

Muñiz, Adriana, Martinez, Gisela, Lavinha, João, Pacheco, Paula

Journal:

American Journal of Hematology

Année:

2000

Langue:

english

Fichier:

PDF, 126 KB

english, 2000

Complex cystic fibrosis allele R334W-R1158X results in reduced levels of correctly processed mRNA in a pancreatic sufficient patient

Ângela Duarte, Margarida Amaral, Celeste Barreto, Paula Pacheco, João Lavinha

Journal:

Human Mutation

Année:

1996

Langue:

english

Fichier:

PDF, 612 KB

english, 1996

Asymptomatic homozygous deletional β0-thalassemia in an African individual

Paula Faustino, Ana Batalha Reis, Helena Feliciano, Lénia Ferrão, Patrícia Pereira, Isabel Picanço, Armandina Miranda, Teresa Seixas, Luísa Romão, Esmeraldina Correia Júnior, João Lavinha

Journal:

American Journal of Hematology

Année:

2002

Langue:

english

Fichier:

PDF, 1.87 MB

english, 2002

An African origin for an “American black” β°-thalassemia mutation?

Joāo Goņalves, Paula Faustino, Joāo Lavinha, Lino Rosado, Maria Joio Peres, Maria Do Carmo Martins

Journal:

American Journal of Hematology

Année:

1994

Langue:

english

Fichier:

PDF, 267 KB

english, 1994

Single-strand conformation polymorphism (SSCP) analysis of the molecular pathology of hemophilia B

Dezso David, Humberto A. V. Rosa, Susan Pemberton, Maria J. Diniz, Manuel Campos, João Lavinha

Journal:

Human Mutation

Année:

1993

Langue:

english

Fichier:

PDF, 571 KB

english, 1993

The geographic pattern of β-thalassaemia mutations in the Portuguese population

Paula Faustino, Paula Pacheco, Pedro Loureiro, Paulo J. Nogueira, João Lavinha

Journal:

British Journal of Haematology

Année:

1999

Langue:

english

Fichier:

PDF, 48 KB

english, 1999

A novel rearrangement of the human fetal globin genes leading to a six γ-globin gene haplotype

Isabel Gonçalves, João Lavinha, Rolande Ducrocq, Leonor Osório-Almeida

Journal:

British Journal of Haematology

Année:

2002

Langue:

english

Fichier:

PDF, 133 KB

english, 2002

Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family

Salomé Almeida, Edgar Almeida, Dorien Peters, José Reimão Pinto, Isabel Távora, João Lavinha, Martjn Breuning, Mateus Martins Prata

Journal:

Human Genetics

Année:

1995

Langue:

english

Fichier:

PDF, 435 KB

english, 1995

Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of β-thalassaemia in the Portuguese population

Paula Faustino, Leonor Osório-Almeida, José Barbot, Deonilde Espírito-Santo, João Gonçalves, Luísa Romão, M. Carmo Martins, M. Maia Marques, João Lavinha

Journal:

Human Genetics

Année:

1992

Langue:

english

Fichier:

PDF, 390 KB

english, 1992

Characterization of a splicing mutation in the factor VIII gene at the RNA level

Dezsö David, Alice Tavares, Joao Lavinha

Journal:

Human Genetics

Année:

1995

Langue:

english

Fichier:

PDF, 278 KB

english, 1995

A novel mosaic Bantu/Benin/Bantu βshaplotype found in several African populations

Isabel Gonçalves, João Gonçalves, Bruno Périchon, Leonor Osório-Almeida, Rajagopal Krishnamoorthy, João Lavinha

Journal:

Human Genetics

Année:

1994

Langue:

english

Fichier:

PDF, 337 KB

english, 1994

Cystic fibrosis in the Portuguese population: haplotype distribution and molecular pathology

Angela Duarte, Celeste Barreto, Luís Marques-Pinto, M. Carmo Tavares, Jorge Amil, Maximina Pinto, M. Lurdes Chieira, Sérgio Castedo, João Lavinha

Journal:

Human Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 230 KB

english, 1990

Early modification of sickle cell disease clinical course by UDP-glucuronosyltransferase 1A1 gene promoter polymorphism

Rute Martins, Anabela Morais, Alexandra Dias, Isabel Soares, Cristiana Rolão, J. L. Ducla-Soares, Lígia Braga, Teresa Seixas, Baltazar Nunes, Gabriel Olim, Luísa Romão, João Lavinha, Paula Faustino

Journal:

Journal of Human Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 161 KB

english, 2008

Cystic Fibrosis F508del Patients Have Apically Localized CFTR in a Reduced Number of Airway Cells

Penque, Deborah, Mendes, Filipa, Beck, Sebastian, Farinha, Carlos, Pacheco, Paula, Nogueira, Paulo, Lavinha, João, Malhó, Rui, Amaral, Margarida D

Journal:

Laboratory Investigation

Année:

2000

Langue:

english

Fichier:

PDF, 1.53 MB

english, 2000

10.1038/nbt1101-1011a

Albuquerque-Silva, João, Vassart, Gilbert, Lavinha, João, Abramowicz, Marc J.

Journal:

Nature Biotechnology

Année:

2001

Langue:

english

Fichier:

PDF, 25 KB

english, 2001

Comment on ‘Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease’

Inácio, Ângela, Silva, Ana Luísa, Morgado, Ana, Pereira, Francisco J C, Lavinha, João, Romão, Luísa

Journal:

European Journal of Human Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 59 KB

english, 2007

The Peopling of Sao Tome (Gulf of Guinea): Origins of Slave Settlers and Admixture with the Portuguese

Tomas, Gil, Seco, Luisa, Seixas, Susana, Faustino, Paula, Lavinha, Joao, Rocha, Jorge

Journal:

Human Biology

Année:

2002

Langue:

english

Fichier:

PDF, 194 KB

english, 2002

Genetic variation in CD36 , HBA , NOS3 and VCAM1 is associated with chronic haemolysis level in sickle cell anaemia: a longitudinal study

Coelho, Andreia, Dias, Alexandra, Morais, Anabela, Nunes, Baltazar, Ferreira, Emanuel, Picanço, Isabel, Faustino, Paula, Lavinha, João

Journal:

European Journal of Haematology

Année:

2014

Langue:

english

Fichier:

PDF, 237 KB

english, 2014

Integrated approach to the in vivo genotoxic effects of a titanium dioxide nanomaterial using LacZ plasmid-based transgenic mice

Louro, Henriqueta, Tavares, Ana, Vital, Nádia, Costa, Pedro M., Alverca, Elsa, Zwart, Edwin, de Jong, Wim H., Fessard, Valérie, Lavinha, João, Silva, Maria J.

Journal:

Environmental and Molecular Mutagenesis

Année:

2014

Langue:

english

Fichier:

PDF, 340 KB

english, 2014

Importation Route of the Sickle Cell Trait into Portugal: Contribution of Molecular Epidemiology

JOÃO LAVINHA, JOÃO GONÇALVES, PAULA FAUSTINO, LUÍSA ROMÃO, LEONOR OSÓRIO-ALMEIDA, M. JOÃO PERES, ISABEL PICANÇO, M. CARMO MARTINS, ROLANDE DUCROCQ, DOMINIQUE LABIE and RAJAGOPAL KRISHNAMOORTHY

Journal:

Human Biology

Année:

1992

Langue:

english

Fichier:

PDF, 828 KB

english, 1992

COMPOUND HETEROZYGOSITY FOR Hb SPANISH TOWN [ α 27(B8)Glu→Val], Hb S [ β 6(A3)Glu→Val] AND THE − α (3.7 kb) THALASSEMIA DELETION

Faustino, Paula, Picanço, Isabel, Miranda, Armandina, Seixas, Teresa, Ferrão, Anabela, Morais, Anabela, Lavinha, João, Romão, Luísa

Journal:

Hemoglobin

Année:

2002

Langue:

english

Fichier:

PDF, 181 KB

english, 2002

Special Issue on Understanding the Population History of Southern Asia and Oceania: How Informative Are Genetic Studies on Contemporary Indigenous Populations? || The Peopling of São Tomé (Gulf of Guinea): Origins of Slave Settlers and Admixture with the Portuguese

GIL TOMÁS, LUÍSA SECO, SUSANA SEIXAS, PAULA FAUSTINO, JOÃO LAVINHA and JORGE ROCHA

Journal:

Human Biology

Année:

2002

Langue:

english

Fichier:

PDF, 1.27 MB

english, 2002

Hemorheological alterations in sickle cell anemia and their clinical consequences – The role of genetic modulators

Silva, Marisa, Vargas, Sofia, Coelho, Andreia, Dias, Alexandra, Ferreira, Teresa, Morais, Anabela, Maia, Raquel, Kjöllerström, Paula, Lavinha, João, Faustino, Paula

Journal:

Clinical Hemorheology and Microcirculation

Année:

2017

Langue:

english

Fichier:

PDF, 133 KB

english, 2017

Sickle cell anemia – Nitric oxide related genetic modifiers of hematological and biochemical parameters

Aguiar, Laura, Matos, Andreia, Gil, Ângela, Afonso, Conceição, Almeida, Salomé, Braga, Lígia, Lavinha, João, Kjollerstrom, Paula, Faustino, Paula, Bicho, Manuel, Inácio,

Journal:

Clinical Hemorheology and Microcirculation

Année:

2017

Langue:

english

Fichier:

PDF, 182 KB

english, 2017

Variants in the non-coding region of the TLR2 gene associated with infectious subphenotypes in pediatric sickle cell anemia

David, Susana, Aguiar, Pedro, Antunes, Liliana, Dias, Alexandra, Morais, Anabela, Sakuntabhai, Anavaj, Lavinha, João

Journal:

Immunogenetics

Année:

2017

Langue:

english

Fichier:

PDF, 702 KB

english, 2017

Population genetics of IFITM3 in Portugal and Central Africa reveals a potential modifier of influenza severity

David, Susana, Correia, Vanessa, Antunes, Liliana, Faria, Ricardo, Ferrão, José, Faustino, Paula, Nunes, Baltazar, Maltez, Fernando, Lavinha, João, de Andrade, Helena Rebelo

Journal:

Immunogenetics

Année:

2017

Langue:

english

Fichier:

PDF, 642 KB

english, 2017

Identification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by keratolenticular dysgenesis and ectopia lentis

David, Dezső, Anand, Deepti, Araújo, Carlos, Gloss, Brian, Fino, Joana, Dinger, Marcel, Lindahl, Päivi, Pöyhönen, Minna, Hannele, Laivuori, Lavinha, João

Journal:

Experimental Eye Research

Année:

2018

Langue:

english

Fichier:

PDF, 1.44 MB

english, 2018

Conventional and novel “omics”-based approaches to the study of carbon nanotubes pulmonary toxicity

Ventura, Célia, Sousa-Uva, António, Lavinha, João, Silva, Maria João

Journal:

Environmental and Molecular Mutagenesis

Année:

2018

Langue:

english

Fichier:

PDF, 691 KB

english, 2018

Efficacy of Nutrition and WASH/Malaria Educational Community-Based Interventions in Reducing Anemia in Preschool Children from Bengo, Angola: Study Protocol of a Randomized Controlled Trial

Fançony, Cláudia, Soares, Ânia, Lavinha, João, Barros, Henrique, Brito, Miguel

Journal:

International Journal of Environmental Research and Public Health

Année:

2019

Fichier:

PDF, 408 KB

2019

Ethnic Heterogeneity of the Factor XIII Val34Leu Polymorphism

Attié-Castro, Flávia, Zago, Marco, Lavinha, João, Elion, J., Rodriguez-Delfin, L., F.Guerreiro, João, Franco, Rendrik

Journal:

Thrombosis and Haemostasis

Année:

2000

Langue:

english

Fichier:

PDF, 73 KB

english, 2000