Natalia Salgueiro
AuthID: R-00F-VH1
1
TITLE: ARTHROGRYPOSIS MULTIPLEX CONGENITA TYPE 6: PRENATAL DIAGNOSIS THROUGH THE POWER OF WHOLE EXOME SEQUENCING (WES) Full Text
AUTHORS: Conceicao, Ariana; Salgueiro, Natalia; Castro, Lisandra; Alves, Claudia; Dantas, Marcelo; Mata, Joao; Mendes, Celia; Garcia, Elsa; Trindade, Joana; Ladeira, Guilhermina; Lima, Margarida R.;
PUBLISHED: 2025, SOURCE: MEDICINE, VOLUME: 104, ISSUE: 4
AUTHORS: Conceicao, Ariana; Salgueiro, Natalia; Castro, Lisandra; Alves, Claudia; Dantas, Marcelo; Mata, Joao; Mendes, Celia; Garcia, Elsa; Trindade, Joana; Ladeira, Guilhermina; Lima, Margarida R.;
PUBLISHED: 2025, SOURCE: MEDICINE, VOLUME: 104, ISSUE: 4
INDEXED IN: 
WOS
WOS2
TITLE: WHOLE-EXOME-SEQUENCING (WES) - AN IMPORTANT TOOL TO ACCURATE DIAGNOSIS OF PRENATAL CONGENITAL ANOMALIES Full Text
AUTHORS: Castro, Lisandra; Salgueiro, Natalia; Conceicao, Ariana; Moreira, Marta; Garcia, Elsa; Freitas, Michael; Gavina, Adriana; Alves, Claudia; Correia, Cecilia; Moldovan, Oana; Lima, Margarida R.;
PUBLISHED: 2025, SOURCE: MEDICINE, VOLUME: 104, ISSUE: 4
AUTHORS: Castro, Lisandra; Salgueiro, Natalia; Conceicao, Ariana; Moreira, Marta; Garcia, Elsa; Freitas, Michael; Gavina, Adriana; Alves, Claudia; Correia, Cecilia; Moldovan, Oana; Lima, Margarida R.;
PUBLISHED: 2025, SOURCE: MEDICINE, VOLUME: 104, ISSUE: 4
INDEXED IN: WOS
WOS3
TITLE: WHOLE EXOME SEQUENCING- FIRST TIER TEST FOR FETUSES WITH SEVERE CENTRAL NERVOUS SYSTEM ANOMALIES Full Text
AUTHORS: Salgueiro, Natalia; Conceicao, Ariana; Castro, Lisandra; Garcia, Elsa; Correia, Ana; Alves, Claudia; Santos, Fernando; Pereira, Nuno; Cerveira, Isabel; Lopes, Dulcina; Rosmaninho, Adosinda; de Almeida, Maria Lopes; Ramos, Lina; Ramos, Fabiana; Lima, Margarida R.;
PUBLISHED: 2025, SOURCE: MEDICINE, VOLUME: 104, ISSUE: 4
AUTHORS: Salgueiro, Natalia; Conceicao, Ariana; Castro, Lisandra; Garcia, Elsa; Correia, Ana; Alves, Claudia; Santos, Fernando; Pereira, Nuno; Cerveira, Isabel; Lopes, Dulcina; Rosmaninho, Adosinda; de Almeida, Maria Lopes; Ramos, Lina; Ramos, Fabiana; Lima, Margarida R.;
PUBLISHED: 2025, SOURCE: MEDICINE, VOLUME: 104, ISSUE: 4
INDEXED IN: WOS
WOS4
TITLE: Whole Exome Sequencing- first tier test for fetuses with severe central nervous system anomalies
AUTHORS: Salgueiro, Natalia; Castro, Lisandra; Conceicao, Ariana; Garcia, Elsa; Alves, Claudia; Dias, Carolina; Almeida, Maria Lopes; Ramos, Fabiana; Pereira, Nuno; Ramos, Lina; Reis Lima, Margarida;
PUBLISHED: 2024, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 32
AUTHORS: Salgueiro, Natalia; Castro, Lisandra; Conceicao, Ariana; Garcia, Elsa; Alves, Claudia; Dias, Carolina; Almeida, Maria Lopes; Ramos, Fabiana; Pereira, Nuno; Ramos, Lina; Reis Lima, Margarida;
PUBLISHED: 2024, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 32
INDEXED IN: WOS
WOS5
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
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
WOS6
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
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
WOS7
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
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
WOS8
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
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
WOS9
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
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
