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TITLE: Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes  Full Text
AUTHORS: Garcia Pelaez, Jose; Barbosa Matos, Rita; Lobo, Silvana; Dias, Alexandre; Garrido, Luzia; Castedo, Sergio; Sousa, Sonia; Pinheiro, Hugo; Sousa, Liliana ; Monteiro, Rita; Maqueda, Joaquin J.; Fernandes, Susana; Carneiro, Fatima ; Pinto, Nadia ; Lemos, Carolina ; Pinto, Carla; Teixeira, Manuel R. ; Aretz, Stefan; Bajalica Lagercrantz, Svetlana; Balmana, Judith; Blatnik, Ana; Benusiglio, Patrick R.; Blanluet, Maud; Bours, Vincent; Brems, Hilde; Brunet, Joan; Calistri, Daniele; Capella, Gabriel; Carrera, Sergio; Colas, Chrystelle; Dahan, Karin; de Putter, Robin; Desseignes, Camille; Dominguez Garrido, Elena; Egas, Conceicao; Evans, D. Gareth; Feret, Damien; Fewings, Eleanor; Fitzgerald, Rebecca C.; Coulet, Florence; Garcia Barcina, Maria; Genuardi, Maurizio; Golmard, Lisa; Hackmann, Karl; Hanson, Helen; Holinski Feder, Elke; Huneburg, Robert; Krajc, Mateja; Lagerstedt Robinson, Kristina; Lazaro, Conxi; Ligtenberg, Marjolijn J. L.; Martinez Bouzas, Cristina; Merino, Sonia; Michils, Genevieve; Novakovic, Srdjan; Patino Garcia, Ana; Ranzani, Guglielmina Nadia; Schrock, Evelin; Silva, Ines; Silveira, Catarina; Soto, Jose L.; Spier, Isabel; Steinke Lange, Verena; Tedaldi, Gianluca; Tejada, Maria Isabel; Woodward, Emma R.; Tischkowitz, Marc; Hoogerbrugge, Nicoline; Oliveira, Carla; ...More
PUBLISHED: 2023, SOURCE: LANCET ONCOLOGY, VOLUME: 24, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 14
IN MY: ORCID
2
TITLE: Feingold syndrome type 1: a rare cause of fetal microcephaly (prenatal diagnosis)
AUTHORS: Gouveia, Ines; Geraldo, Ana Filipa ; Godinho, Cristina; Castedo, Sergio;
PUBLISHED: 2023, SOURCE: BMJ CASE REPORTS, VOLUME: 16, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
3
TITLE: Combined loss of CDH1 and downstream regulatory sequences drive early-onset diffuse gastric cancer and increase penetrance of hereditary diffuse gastric cancer
AUTHORS: Celina São José; José Garcia Pelaez; Marta Ferreira; Oscar Arrieta; Ana André; Nelson Martins; Samantha Solís; Braulio Martínez Benítez; María Luisa Ordóñez Sánchez; Maribel Rodríguez Torres; Anna Sommer; Iris A W te Paske; Carlos Caldas; Marc Tischkowitz; Maria Teresa Tusié; Stefan Aretz; Gabriel Capella; Sérgio Castedo; Richarda de Voer; Gareth Evans; Susana Fernandes; Luzia Garrido; Elke Holinski Feder; Nicoline Hoogerbrugge; David Huntsman; Arne Jahn; Marleen Kets; Andreas Laner; Marjolijn Ligtenberg; Andrea Meinhardt; Arjen Mensenkamp; Carla Oliveira; Sophia Peters; Isabel Quintana; Evelin Schröck; Anna Sommer; Isabel Spier; Liesbeth Spruijt; Verena Steinke Lange; Iris te Paske; Marc Tischkowitz; Laura Valle; Rachel van der Post; Yasmijn van Herwaarden; Wendy van Zelst Stams; Doreen William; Nicoline Hoogerbrugge; German Demidov; Richarda de Voer; Steve Laurie; Carla Oliveira; ...More
PUBLISHED: 2023, SOURCE: Gastric Cancer, VOLUME: 26, ISSUE: 5
INDEXED IN: Scopus CrossRef: 5
IN MY: ORCID
4
TITLE: Congenital Coronary Artery Fistulas, a Polish single-center computed tomographic registry  Full Text
AUTHORS: Madeira, Sergio; Almeida, Antonio Rocha; Domingues, Miguel;
PUBLISHED: 2023, SOURCE: KARDIOLOGIA POLSKA, VOLUME: 81, ISSUE: 12
INDEXED IN: Scopus WOS
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TITLE: A Comprehensive Study on Surveillance Outcomes of a Male Population Carrying Pathogenic/Likely pathogenic Variants associated with Hereditary Breast Cancer Syndromes at a Portuguese Tertiary Hospital
AUTHORS: Maria João Oliveira; Susy Costa; André Magalhães; Luzia Garrido; Bárbara Peleteiro; José Luís Fougo; Sérgio Castedo;
PUBLISHED: 2023
INDEXED IN: CrossRef
IN MY: ORCID
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TITLE: Extracolonic tumours in a pedigree with EPCAM-related Lynch Syndrome
AUTHORS: Alves da Silva, J; Castedo, S; Pedroto, I; Marcos Pinto, R;
PUBLISHED: 2022, SOURCE: European Journal of Medical Genetics, VOLUME: 65, ISSUE: 5
INDEXED IN: Scopus CrossRef
IN MY: ORCID
7
TITLE: Whole-Exome Sequencing Targeting a Gene Panel for Sensorineural Hearing Loss: The First Portuguese Cohort Study
AUTHORS: Reis, Claudia Sousa; Quental, Sofia; Fernandes, Susana; Castedo, Sergio; Carla Pinto Moura ;
PUBLISHED: 2022, SOURCE: CYTOGENETIC AND GENOME RESEARCH, VOLUME: 162, ISSUE: 1-2
INDEXED IN: Scopus WOS CrossRef: 2
IN MY: ORCID
8
TITLE: Eleven novel APC mutations identified in Portuguese FAP families.
AUTHORS: Isidro, G; Matos, P ; Almeida, S; Claudino, S; Marshall, B; Soares, J; Leite, J; Regateiro, F; Brito, MJ; Giria, J; Castro, C; Ramos, J; Novais, L; Morna, H; Medeira, A; Castedo, S; Boavida, MG;
PUBLISHED: 2000, SOURCE: Human mutation, VOLUME: 16, ISSUE: 2
INDEXED IN: Scopus CrossRef: 3
IN MY: ORCID
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TITLE: Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype
AUTHORS: Gita Tan-Sindhunata; Sérgio Castedo; Beike Leegte; Irma Mulder; Anneke Y vd Veen; Annemieke H vd Hout; Titte J Wiersma; Anthonie J Van Essen;
PUBLISHED: 2000, SOURCE: American Journal of Medical Genetics, VOLUME: 92, ISSUE: 2
INDEXED IN: CrossRef: 2
IN MY: ORCID
10
TITLE: Pathological exon skipping in an HNPCC proband with MLH1 splice acceptor site mutation
AUTHORS: Luka A Clarke; Isabel Veiga; Gloria Isidro; Peter Jordan; José Silva Ramos; Sergio Castedo; Maria Guida Boavida;
PUBLISHED: 2000, SOURCE: Genes, Chromosomes and Cancer, VOLUME: 29, ISSUE: 4
INDEXED IN: CrossRef
IN MY: ORCID
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