Maria João Nabais Sá
AuthID: R-000-VYD
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TITLE: Infantile refsum disease: Influence of dietary treatment on plasma phytanic acid levels
AUTHORS: Sá, MJN; Rocha, JC; Almeida, MF; Carmona, C; Martins, E ; Miranda, V; Coutinho, M; Ferreira, R; Pacheco, S; Laranjeira, F ; Ribeiro, I; Fortuna, AM; Lacerda, L;
PUBLISHED: 2016, SOURCE: JIMD Reports, VOLUME: 26
AUTHORS: Sá, MJN; Rocha, JC; Almeida, MF; Carmona, C; Martins, E ; Miranda, V; Coutinho, M; Ferreira, R; Pacheco, S; Laranjeira, F ; Ribeiro, I; Fortuna, AM; Lacerda, L;
PUBLISHED: 2016, SOURCE: JIMD Reports, VOLUME: 26
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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
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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
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TITLE: Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach
AUTHORS: Marques, I; Sa, MJ; Soares, G; Mota, MD; Pinheiro, C; Aguiar, L; Amado, M; Soares, C; Calado, A; Dias, P; Sousa, AB; Fortuna, AM; Santos, R; Howell, KB; Ryan, MM; Leventer, RJ; Sachdev, R; Catford, R; Friend, K; Mattiske, TR; ...More
PUBLISHED: 2015, SOURCE: MOLECULAR GENETICS & GENOMIC MEDICINE, VOLUME: 3, ISSUE: 3
AUTHORS: Marques, I; Sa, MJ; Soares, G; Mota, MD; Pinheiro, C; Aguiar, L; Amado, M; Soares, C; Calado, A; Dias, P; Sousa, AB; Fortuna, AM; Santos, R; Howell, KB; Ryan, MM; Leventer, RJ; Sachdev, R; Catford, R; Friend, K; Mattiske, TR; ...More
PUBLISHED: 2015, SOURCE: MOLECULAR GENETICS & GENOMIC MEDICINE, VOLUME: 3, ISSUE: 3
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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: 
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WOS16
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