51
TITLE: Fetal hemoglobin level and stroke risk in children with sickle cell anemia
AUTHORS: Marta Nicolau; Sofia Vargas; Andreia Coelho; Marisa Silva; Joana Mendonça; Luís Vieira; Paula Kjollerstrom; Raquel Maia; Rute Silva; Alexandra Dias; Teresa Ferreira; Anabela Morais; Isabel Mota Soares; João Lavinha; Paula Faustino;
PUBLISHED: 2017, SOURCE: 21ª Reunião da Sociedade Portuguesa de Genética Humana, 16-18 nov 2017
INDEXED IN: Handle
52
TITLE: Genetic modifiers of the intermediate phenotypes in sickle cell anemia
AUTHORS: Laura Aguiar; Ângela Matos; Ângela Gil; Joana Ferreira; Lígia Braga; Salomé Almeida; Paula Kjollerstrom; Paula Faustino; Manuel Bicho; Ângela Inácio;
PUBLISHED: 2017, SOURCE: 21ª Reunião da Sociedade Portuguesa de Genética Humana, 16-18 nov 2017
INDEXED IN: Handle
53
TITLE: Hemoglobinas variantes com mobilidade eletroforética semelhante à da Hemoglobina S
AUTHORS: Armandina Miranda; Filomena Seuanes; Sandra Copeto; Pedro Loureiro; Alcina Costa; Sandra Costa; Maria T Seixas; João Gonçalves; Paula Faustino;
PUBLISHED: 2017, SOURCE: 2.º Congresso de Controlo da Qualidade Laboratorial para Países de Língua Portuguesa (CCQL-PLP), 12-14 outubro 2017
INDEXED IN: Handle
54
TITLE: Síndrome hereditária hiperferritinemia-cataratas: conhecer para diagnosticar. Hereditary hyperferritinaemia-cataract syndrome: knowledge enables diagnosis
AUTHORS: Rosa Martins; Rita Martins; Ana M Queiroz; Paula Faustino; Maria G. Ferreira;
PUBLISHED: 2017, SOURCE: Acta Pediátrica Portuguesa, VOLUME: 48, ISSUE: 2
INDEXED IN: Handle
55
TITLE: Hemoglobin variants with electrophoretic mobility similar to hemoglobin S
AUTHORS: Armandina Miranda; Paula Faustino; João Gonçalves; Filomena Seuanes; Sandra Copeto; Pedro Loureiro; Alcina Costa; Sandra Costa; Maria T Seixas;
PUBLISHED: 2017, SOURCE: 9ª Reunião Científica da Sociedade Portuguesa de Medicina Laboratorial, 7-8 abril 2017
INDEXED IN: Handle
56
TITLE: Next-generation sequencing of hereditary hemochromatosis-related genes: Novel likely pathogenic variants found in the Portuguese population  Full Text
AUTHORS: Ricardo Faria; Bruno Silva; Catarina Silva; Pedro Loureiro; Ana Queiroz; Sofia Fraga; Jorge Esteves; Diana Mendes; Rita Fleming; Luis Vieira; Joao Goncalves; Paula Faustino;
PUBLISHED: 2016, SOURCE: BLOOD CELLS MOLECULES AND DISEASES, VOLUME: 61
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
57
TITLE: HFE Variants and the Expression of Iron-Related Proteins in Breast Cancer-Associated Lymphocytes and Macrophages
AUTHORS: Marques, O; Rosa, A; Leite, L; Faustino, P; Rema, A; Silva, BM; Porto, G; Lopes, C;
PUBLISHED: 2016, SOURCE: CANCER MICROENVIRONMENT, VOLUME: 9, ISSUE: 2-3
INDEXED IN: Scopus WOS CrossRef: 3
IN MY: ORCID
58
TITLE: Ferroportin Disease (Haemochromatosis-type IV): a case report
AUTHORS: Elena Novo; Ricardo Faria; Paula Faustino; Rita Fleming;
PUBLISHED: 2016, SOURCE: European Iron Club 2016, April 7-10 2016
INDEXED IN: Handle
59
TITLE: Next-generation sequencing of iron-metabolism related genes in Portuguese patients with iron overload: novel pathogenic genetic variants
AUTHORS: Ricardo Faria; Bruno Silva; Catarina Silva; Luis Vieira; Pedro Loureiro; Susana Gomes; João Gonçalves; Isabel Rivera; Sofia Fraga; Rita Fleming; Paula Faustino;
PUBLISHED: 2016, SOURCE: European Iron Club 2016, April 7-10 2016
INDEXED IN: Handle
60
TITLE: Novel deletions and unusual genetic mechanisms underlying alpha-thalassemia
AUTHORS: José Ferrão; Marisa Silva; Lúcia Gonçalves; Susana Gomes; Andreia Coelho; Armandina Miranda; Filomena Seuanes; Ana Batalha Reis; C. Valtonen Andrá; A. Sonesson; Francisca Pina; João Forjaz Lacera; Raquel Maia; Paula Kjollerstrom; João Lavinha; João Gonçalves; Paula Faustino;
PUBLISHED: 2016, SOURCE: 20ª reunião anual da Sociedade Portuguesa de Genética Humana, 10-12 Novembro 2016
INDEXED IN: Handle
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