Elsa Susana Pinto Garcia Carvalho
AuthID: R-002-PZR
1
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
WOS2
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
WOS3
TITLE: PRENATAL DIAGNOSIS OF A BECKWITH-WIEDEMANN SYNDROME CASE: CLINICAL SUSPICION AND MOLECULAR TEST AS A TOOL IN PRE-NATAL DIAGNOSIS Full Text
AUTHORS: Garcia, Elsa; Moreira, Marta; Salgueiro, Natalia; Castro, Lisandra; Conceicao, Ariana; Alves, Claudia; Trindade, Joana; Lopes, Dulcina; Lima, Margarida Reis;
PUBLISHED: 2025, SOURCE: MEDICINE, VOLUME: 104, ISSUE: 4
AUTHORS: Garcia, Elsa; Moreira, Marta; Salgueiro, Natalia; Castro, Lisandra; Conceicao, Ariana; Alves, Claudia; Trindade, Joana; Lopes, Dulcina; Lima, Margarida Reis;
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: A novel genetic mutation in a Portuguese family with GCK-MODY
AUTHORS: Claudia Almeida; Sonia Regina Silva; Elsa Garcia; Ana Luisa Leite; Andreia Teles; Rosa Armenia Campos;
PUBLISHED: 2014, SOURCE: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, VOLUME: 27, ISSUE: 1-2
AUTHORS: Claudia Almeida; Sonia Regina Silva; Elsa Garcia; Ana Luisa Leite; Andreia Teles; Rosa Armenia Campos;
PUBLISHED: 2014, SOURCE: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, VOLUME: 27, ISSUE: 1-2
