Maria João Nabais Sá
AuthID: R-000-VYD
1
TITLE: MUTATIONAL SPECTRUM OF GENES RELATED TO HEREDITARY NEUROPATHIES - DATA FROM A MOLECULAR DIAGNOSTICS LABORATORY Full Text
AUTHORS: Lopes, Fatima; Lopes, Alexandra M.; Brandao, Ana Filipa; Silva, Paulo; Lopes, Ana; Bastos Ferreira, Rita; Morais, Sara; Sa, Joana; Rocha, Liliana; Alves, Filipe; Nabais Sa, Maria Joao; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Lopes, Fatima; Lopes, Alexandra M.; Brandao, Ana Filipa; Silva, Paulo; Lopes, Ana; Bastos Ferreira, Rita; Morais, Sara; Sa, Joana; Rocha, Liliana; Alves, Filipe; Nabais Sa, Maria Joao; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: 
WOS
WOS2
TITLE: GENETIC HETEROGENEITY IN MUSCULAR DYSTROPHIES AND CONGENITAL MYOPATHIES: DATA FROM MULTIGENE WES-BASED GENETIC STUDIES Full Text
AUTHORS: Lopes, Alexandra M.; Lopes, Fatima; Brandao, Ana Filipa; Silva, Paulo; Alves, Filipe; Lopes, Ana; Bastos Ferreira, Rita; Morais, Sara; Nabais Sa, Maria Joao; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Lopes, Alexandra M.; Lopes, Fatima; Brandao, Ana Filipa; Silva, Paulo; Alves, Filipe; Lopes, Ana; Bastos Ferreira, Rita; Morais, Sara; Nabais Sa, Maria Joao; Freixo, Joao Parente; Sequeiros, Jorge; Oliveira, Jorge;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
WOS3
TITLE: Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder? Full Text
AUTHORS: Maia, N ; Sa, MJN; Cláudia Oliveira ; Santos, F; Soares, CA; Prior, C; Tkachenko, N; Santos, R; de Brouwer, APM; Jacome, A; Porto, B; Jorge, P;
PUBLISHED: 2022, SOURCE: GENES, VOLUME: 13, ISSUE: 1
AUTHORS: Maia, N ; Sa, MJN; Cláudia Oliveira ; Santos, F; Soares, CA; Prior, C; Tkachenko, N; Santos, R; de Brouwer, APM; Jacome, A; Porto, B; Jorge, P;
PUBLISHED: 2022, SOURCE: GENES, VOLUME: 13, ISSUE: 1
4
TITLE: Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families. COL4A5 -related nephropathies in Portugal Full Text
AUTHORS: Sa, MJN; Sampaio, S ; Oliveira, A; Alves, S; Carla Pinto Moura ; Silva, SE; Castro, R; Araujo, JA; Rodrigues, M; Neves, F; Seabra, J; Soares, C; Gaspar, MA; Tavares, I ; Freitas, L; Sousa, TC; Henriques, AC; Costa, FT; Morgado, E; Sousa, FT; ...More
PUBLISHED: 2015, SOURCE: CLINICAL GENETICS, VOLUME: 88, ISSUE: 5
AUTHORS: Sa, MJN; Sampaio, S ; Oliveira, A; Alves, S; Carla Pinto Moura ; Silva, SE; Castro, R; Araujo, JA; Rodrigues, M; Neves, F; Seabra, J; Soares, C; Gaspar, MA; Tavares, I ; Freitas, L; Sousa, TC; Henriques, AC; Costa, FT; Morgado, E; Sousa, FT; ...More
PUBLISHED: 2015, SOURCE: CLINICAL GENETICS, VOLUME: 88, ISSUE: 5
5
TITLE: Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families. Collagen type IV-related nephropathies in Portugal Full Text
AUTHORS: Sa, MJN; Storey, H; Flinter, F; Nagel, M; Sampaio, S; Castro, R; Araujo, JA; Gaspar, MA; Soares, C; Oliveira, A; Henriques, AC; da Costa, AG; Abreu, CP; Ponce, P; Alves, R; Pinho, L; Silva, SE; Carla Pinto Moura ; Mendonca, L; Carvalho, F ; ...More
PUBLISHED: 2015, SOURCE: CLINICAL GENETICS, VOLUME: 88, ISSUE: 5
AUTHORS: Sa, MJN; Storey, H; Flinter, F; Nagel, M; Sampaio, S; Castro, R; Araujo, JA; Gaspar, MA; Soares, C; Oliveira, A; Henriques, AC; da Costa, AG; Abreu, CP; Ponce, P; Alves, R; Pinho, L; Silva, SE; Carla Pinto Moura ; Mendonca, L; Carvalho, F ; ...More
PUBLISHED: 2015, SOURCE: CLINICAL GENETICS, VOLUME: 88, ISSUE: 5
6
TITLE: Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach
AUTHORS: Isabel Marques; Maria Joao sa; Gabriela Soares; Maria do Ceu Mota; Carla Pinheiro; Lisa Aguiar; Marta Amado; Christina Soares; Angelina Calado; Patricia Dias; Ana Berta Sousa; Ana Maria Fortuna; Rosario Santos; Katherine B Howell; Monique M Ryan; Richard J Leventer; Rani Sachdev; Rachael Catford; Kathryn Friend; Tessa R Mattiske; ...More
PUBLISHED: 2015, SOURCE: MOLECULAR GENETICS & GENOMIC MEDICINE, VOLUME: 3, ISSUE: 3
AUTHORS: Isabel Marques; Maria Joao sa; Gabriela Soares; Maria do Ceu Mota; Carla Pinheiro; Lisa Aguiar; Marta Amado; Christina Soares; Angelina Calado; Patricia Dias; Ana Berta Sousa; Ana Maria Fortuna; Rosario Santos; Katherine B Howell; Monique M Ryan; Richard J Leventer; Rani Sachdev; Rachael Catford; Kathryn Friend; Tessa R Mattiske; ...More
PUBLISHED: 2015, SOURCE: MOLECULAR GENETICS & GENOMIC MEDICINE, VOLUME: 3, ISSUE: 3
INDEXED IN: WOS
WOS7
TITLE: MOLECULAR CHARACTERIZATION OF 65 PORTUGUESE FAMILIES WITH CLINICAL DIAGNOSIS OF COLLAGEN TYPE IV GLOMERULOPATHIES
AUTHORS: Maria J N Sa; Susana Alves; Helen Storey; Frances Flinter; Patrick J Willems; Filipa Carvalho ; Joao Oliveira;
PUBLISHED: 2013, SOURCE: 50th European-Renal-Association - European-Dialysis-and-Transplant-Association Congress in NEPHROLOGY DIALYSIS TRANSPLANTATION, VOLUME: 28
AUTHORS: Maria J N Sa; Susana Alves; Helen Storey; Frances Flinter; Patrick J Willems; Filipa Carvalho ; Joao Oliveira;
PUBLISHED: 2013, SOURCE: 50th European-Renal-Association - European-Dialysis-and-Transplant-Association Congress in NEPHROLOGY DIALYSIS TRANSPLANTATION, VOLUME: 28
INDEXED IN: WOS
WOS8
TITLE: Deletion of the 5 ' exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome
AUTHORS: Maria Joao N Nabais Sa; Nathalie Fieremans; Arjan P M de Brouwer; Rita Sousa; Fernando T E Teixeira e Costa; Maria Jose Brito; Fernanda Carvalho; Marcia Rodrigues; Francisco Teixeira de Sousa; Joana Felgueiras; Fernando Neves; Adelino Carvalho; Umbelina Ramos; Jose Ramon Vizcaino; Susana Alves; Filipa Carvalho ; Guy Froyen; Oliveira, JP ;
PUBLISHED: 2013, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 50, ISSUE: 11
AUTHORS: Maria Joao N Nabais Sa; Nathalie Fieremans; Arjan P M de Brouwer; Rita Sousa; Fernando T E Teixeira e Costa; Maria Jose Brito; Fernanda Carvalho; Marcia Rodrigues; Francisco Teixeira de Sousa; Joana Felgueiras; Fernando Neves; Adelino Carvalho; Umbelina Ramos; Jose Ramon Vizcaino; Susana Alves; Filipa Carvalho ; Guy Froyen; Oliveira, JP ;
PUBLISHED: 2013, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 50, ISSUE: 11
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TITLE: Chromosomal mosaicism from a clinical perspective: three different phenotypes, three distinct cases Full Text
AUTHORS: Maria Joao Sa; Marcia Martins; Ana Maria Fortuna; Natalia Oliva Teles; Fernanda Paula Oliveira; Silvia Pires; Maria Ceu Ribeiro; Gabriela Soares;
PUBLISHED: 2011, SOURCE: CHROMOSOME RESEARCH, VOLUME: 19
AUTHORS: Maria Joao Sa; Marcia Martins; Ana Maria Fortuna; Natalia Oliva Teles; Fernanda Paula Oliveira; Silvia Pires; Maria Ceu Ribeiro; Gabriela Soares;
PUBLISHED: 2011, SOURCE: CHROMOSOME RESEARCH, VOLUME: 19
INDEXED IN: WOS
WOS