Maria Paula Duarte Faustino Gonçalves


AuthID: R-000-CF7

Confirmed Publications: 34



11
TITLE: Epidemiology of haemoglobin disorders in Europe: an overview  Full Text
AUTHORS: Modell, B; Darlison, M; Birgens, H; Cario, H; Faustino, P ; Giordano, PC; Gulbis, B; Hopmeier, P; Lena Russo, D; Romao, L ; Theodorsson, E;
PUBLISHED: 2007, SOURCE: SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION, VOLUME: 67, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
12
TITLE: Hb Evora [alpha 2-35 (B16), Ser -> Pro], a novel hemoglobin variant associated with an alpha-thalassemia phenotype  Full Text
AUTHORS: Susana Gomes; Isabel Picanco; Armandina Miranda; Maria Teresa Seixas; Mafalda Oliveira; Luisa Romao ; Paula Faustino ;
PUBLISHED: 2007, SOURCE: HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, VOLUME: 92, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
13
TITLE: Mutational spectrum of delta-globin gene in the Portuguese population  Full Text
AUTHORS: Ana Morgado; Isabel Picanco; Susana Gomes; Armandina Miranda; Margarida Coucelo; Filomena Seuanes; Maria Teresa Seixas; Luisa Romao ; Paula Faustino ;
PUBLISHED: 2007, SOURCE: EUROPEAN JOURNAL OF HAEMATOLOGY, VOLUME: 79, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 17
IN MY: ORCID
14
TITLE: Hemoglobin loves park [beta 68 (E12) Leu -> Phe]: Report of five cases including one originating from a de novo mutation  Full Text
AUTHORS: Ferreira, C; Hoyer, JD; Miranda, A; Picanco, I; Almendra, V; Seixas, MT; Almeida, T; Romao, L ; Faustino, P ;
PUBLISHED: 2006, SOURCE: AMERICAN JOURNAL OF HEMATOLOGY, VOLUME: 81, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
15
TITLE: Human alpha 2-globin nonsense-mediated mRNA decay induced by a novel alpha-thalassaemia frameshift mutation at codon 22  Full Text
AUTHORS: Pereira, FJC; Silva, MD; Picanco, I; Seixas, MT; Ferrao, A; Faustino, P ; Romao, L ;
PUBLISHED: 2006, SOURCE: BRITISH JOURNAL OF HAEMATOLOGY, VOLUME: 133, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
16
TITLE: The canonical UPF1-dependent nonsense-mediated mRNA decay is inhibited in transcripts carrying a short open reading frame independent of sequence context
AUTHORS: Ana Luisa Silva; Francisco J C Pereira; Ana Morgado; Jian Kong; Rute Martins; Paula Faustino ; Stephen A Liebhaber; Luisa Romao ;
PUBLISHED: 2006, SOURCE: RNA-A PUBLICATION OF THE RNA SOCIETY, VOLUME: 12, ISSUE: 12
INDEXED IN: Scopus WOS CrossRef: 29
IN MY: ORCID
17
TITLE: HFE gene mutations are extremely rare in Western sub-Saharan Africa  Full Text
AUTHORS: Martins, R; Picanco, I; Nunes, B ; Romao, L ; Faustino, P ;
PUBLISHED: 2005, SOURCE: ANNALS OF HEMATOLOGY, VOLUME: 84, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
18
TITLE: Hb Yaounde [beta 134(H12)Val -> Ala] in association with Hb C [beta 6(A3)Glu -> Lys] in a Caucasian Portuguese family  Full Text
AUTHORS: Faustino, P ; Miranda, A; Silva, MD; Alves, C; Pinanco, I; Ferreira, C; Seixas, MT; Pina, F; Romao, L ;
PUBLISHED: 2004, SOURCE: HEMOGLOBIN, VOLUME: 28, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
19
TITLE: Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay
AUTHORS: Inacio, A ; Silva, AL; Pinto, J; Ji, XJ; Morgado, A; Almeida, F; Faustino, P ; Lavinha, J; Liebhaber, SA; Romao, L ;
PUBLISHED: 2004, SOURCE: JOURNAL OF BIOLOGICAL CHEMISTRY, VOLUME: 279, ISSUE: 31
INDEXED IN: Scopus WOS CrossRef: 80
IN MY: ORCID
20
TITLE: The role of HFE mutations on iron metabolism in beta-thalassemia carriers  Full Text
AUTHORS: Martins, R; Picanco, I; Fonseca, A; Ferreira, L; Rodrigues, O; Coelho, M; Seixas, T; Miranda, A; Nunes, B ; Costa, L; Romao, L; Faustino, P ;
PUBLISHED: 2004, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 49, ISSUE: 12
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
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