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TITLE: CAKUT SPECTRUM: RENAL HYPODYSPLASIA/APLASIA TYPE 3 PRENATAL DIAGNOSIS ACHIEVED BY WES. CASE REPORT  Full Text
AUTHORS: Garcia, Elsa; Castro, Lisandra; Conceicao, Ariana; Salgueiro, Natalia; Santos, Fernando; Pereira, Nuno; Cerveira, Isabel; Moreira, Marta; Mendes, Celia; Lima, Margarida Reis;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
2
TITLE: AUTOSOMAL DOMINANT TUBB3-RELATED DISORDER DETECTED IN A PRENATAL CASE. THE IMPORTANCE OF WES IN THE DIAGNOSTIC OF PRE-NATAL ANOMALIES  Full Text
AUTHORS: Salgueiro, Natalia; Conceicao, Ariana; Castro, Lisandra; Moreira, Marta; Mendes, Celia; Garcia, Elsa; Cardoso, Marcia; Santos, Fernando; Pereira, Nuno; Cerveira, Isabel; Lima, Margarida R.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
3
TITLE: Co-occurrence of pathogenic mutations in patients at-risk for Hereditary Breast and Ovarian Cancer: two cases diagnosed using a multi-gene panel  Full Text
AUTHORS: Natalia Salgueiro; Claudia Martins; Ariana Conceicao; Diana Pinto; Nataliya Tkachenko; Gabriela Soares; Claudia Falcao Reis; Elsa Garcia; Marta Moreira; Lisandra Castro; Ana Fortuna; Margarida Reis Lima;
PUBLISHED: 2020, SOURCE: 23rd Annual Meeting of the Portuguese-Society-of-Human-Genetics in MEDICINE, VOLUME: 99, ISSUE: 9
INDEXED IN: WOS
4
TITLE: Genetic predisposition to breast/ovarian cancer due to pathogenic variants in other genes than BRCA1/BRCA2. Experience from Synlab Genetic center  Full Text
AUTHORS: Natalia Salgueiro; Ariana Conceicao; Juliette Dupont; Nataliya Tkachenko; Gabriela Soares; Miguel Goncalves Rocha; Claudia Martins; Diana Pinto; Joao Goncalves Rocha; Patricia Dias; Oana Moldovan; Catarina Machado; Renata Oliveira; Joana Goncalves; Ana Berta Sousa; Ana Fortuna; Margarida Reis Lima;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
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TITLE: BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families  Full Text
AUTHORS: Ana Peixoto; Natalia Salgueiro; Catarina Santos; Graca Varzim; Patricia Rocha; Maria Jose Soares; Deolinda Pereira; Helena Rodrigues; Maria Jose Bento; Antonio Fraguas; Graca Moura; Fernando Regateiro; Sergio Castedo ; Manuel R Teixeira ;
PUBLISHED: 2006, SOURCE: FAMILIAL CANCER, VOLUME: 5, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 28