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TITLE: The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing  Full Text
AUTHORS: Barbosa Matos, R; Silva, RL; Garrido, L; Aguiar, AC; Garcia Pelaez, J; Andre, A; Seixas, S; Sousa, SP; Ferro, L; Vilarinho, L; Gullo, I ; Devezas, V; Oliveira, R ; Fernandes, S; Costa, SC; Magalhaes, A; Baptista, M; Carneiro, F ; Pinheiro, H; Castedo, S ; Oliveira, C; ...More
PUBLISHED: 2021, SOURCE: CANCERS, VOLUME: 13, ISSUE: 17
INDEXED IN: Scopus WOS CrossRef: 7
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TITLE: Phenotypic heterogeneity of hereditary diffuse gastric cancer: report of a family with early-onset disease  Full Text
AUTHORS: Irene Gullo ; Vitor Devezas; Manuela Baptista; Luzia Garrido; Sergio Castedo ; Rui Morais; Xiaogang G Wen; Elisabete Rios; Jorge Pinheiro; Ines Pinto Ribeiro; Rui M Ferreira; John Preto ; Joao Santos Antunes ; Margarida Marques; Miquel Campos; Filipe Almeida; Maria do Ceu Espinheira; Jorge Amil Dias; Ceu Figueiredo ; Carla Oliveira; Eunice Trindade; Fatima Carneiro ; ...More
PUBLISHED: 2018, SOURCE: GASTROINTESTINAL ENDOSCOPY, VOLUME: 87, ISSUE: 6
INDEXED IN: WOS CrossRef: 41
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TITLE: Increased red cell distribution width in Fanconi anemia: a novel marker of stress erythropoiesis  Full Text
AUTHORS: Rosa Sousa; Cristina Goncalves ; Isabel Couto Guerra; Emilia Costa; Ana Fernandes; Maria do Bom Sucesso; Joana Azevedo; Alfredo Rodriguez; Rocio Rius; Carlos Seabra; Fatima Ferreira; Leticia Ribeiro; Anabela Ferrao; Sergio Castedo ; Esmeralda Cleto; Jorge Coutinho; Felix Carvalho ; Jose Barbot; Beatriz Porto;
PUBLISHED: 2016, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 11, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 18
IN MY: ORCID
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TITLE: Prenatal diagnosis of Greig cephalopolysyndactyly syndrome: a case report. Greig cephalopolysyndactyly syndrome  Full Text
AUTHORS: Laura Raposo; Helena Fachada; Antonio Santos Paulo; Isabel Cerveira; Sergio Castedo ; Susana Pereira;
PUBLISHED: 2015, SOURCE: PRENATAL DIAGNOSIS, VOLUME: 35, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
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TITLE: A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A gene
AUTHORS: Silva, N; Costa, M; Silva, A; Sa, C; Martins, S; Antunes, A; Marques, O; Castedo, S ; Pereira, A;
PUBLISHED: 2013, SOURCE: ENDOCRINOLOGIA Y NUTRICION, VOLUME: 60, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
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TITLE: Criteria to predict carriers of a novel SCN5A mutation in a large Portuguese family affected by the Brugada syndrome
AUTHORS: Luis Ferreira Santos; Bruno Rodrigues; Davide Moreira; Emanuel Correia; Luis Nunes; Antonio Costa; Luis Elvas; Telmo Pereira ; Jose Carlos Machado ; Sergio Castedo ; Carla Henriques ; Ana Matos; Jorge Oliveira Santos;
PUBLISHED: 2012, SOURCE: EUROPACE, VOLUME: 14, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 9
IN MY: ORCID
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TITLE: Critérios de diagnóstico da Síndrome de Brugada. Podemos melhorar?
AUTHORS: Luís Ferreira Santos; Telmo Pereira; Bruno Rodrigues; Emanuel Correia; Davide Moreira; Luís Nunes; António Costa; Luís Elvas; José Carlos Machado ; Sérgio Castedo ; Carla Henriques ; Ana Matos; Oliveira Santos;
PUBLISHED: 2012, SOURCE: Revista Portuguesa de Cardiologia, VOLUME: 31, ISSUE: 5
INDEXED IN: CrossRef: 2
IN MY: ORCID
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TITLE: Diagnostic criteria for the Brugada syndrome: Can they be improved?
AUTHORS: Luis Ferreira Santos; Telmo Pereira ; Bruno Rodrigues; Emanuel Correia; Davide Moreira; Luis Nunes; Antonio Costa; Luis Elvas; Jose Carlos Machado ; Sergio Castedo ; Carla Henriques ; Ana Matos; Oliveira Santos;
PUBLISHED: 2012, SOURCE: REVISTA PORTUGUESA DE CARDIOLOGIA, VOLUME: 31, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef
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TITLE: Evaluation of the Program BRCAPRO in a Breast Cancer Centre  Full Text
AUTHORS: Costa, S; Sacchetti, M; Batista, R; Ferro, L; Garrido, L; Guimaraes, R; Magalhaes, A; Osorio, F; Castedo, S ; Fougo, J;
PUBLISHED: 2012, SOURCE: 8th European Breast Cancer Conference (EBCC) in EUROPEAN JOURNAL OF CANCER, VOLUME: 48
INDEXED IN: WOS
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TITLE: Psychological Distress in a Population with BRCA1 or BRCA2 Mutation  Full Text
AUTHORS: Costa, S; Guimaraes, R; Garrido, L; Osorio, F; Magalhaes, A; Grangeia, R; Coelho, R; Castedo, S ; Fougo, JL;
PUBLISHED: 2012, SOURCE: 8th European Breast Cancer Conference (EBCC) in EUROPEAN JOURNAL OF CANCER, VOLUME: 48
INDEXED IN: WOS
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