Maria do Rosário Neto dos Santos
AuthID: R-00H-H5E
11
TITLE: Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in MYO7A and NEB
AUTHORS: Maia, N; Soares, AR ; Fortuna, AM; Marques, I; Goncalves, A ; Santos, R; Pires, MM ; de Brouwer, APM; Jorge, P;
PUBLISHED: 2020, SOURCE: CLINICAL CASE REPORTS, VOLUME: 8, ISSUE: 12
AUTHORS: Maia, N; Soares, AR ; Fortuna, AM; Marques, I; Goncalves, A ; Santos, R; Pires, MM ; de Brouwer, APM; Jorge, P;
PUBLISHED: 2020, SOURCE: CLINICAL CASE REPORTS, VOLUME: 8, ISSUE: 12
12
TITLE: Two Compound Heterozygous Variants inSNX14Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20 Full Text
AUTHORS: Maia, N; Soares, G; Silva, C; Marques, I; Rodrigues, B; Santos, R; Melo Pires, M; de Brouwer, AP; Temudo, T; Jorge, P;
PUBLISHED: 2020, SOURCE: FRONTIERS IN GENETICS, VOLUME: 11
AUTHORS: Maia, N; Soares, G; Silva, C; Marques, I; Rodrigues, B; Santos, R; Melo Pires, M; de Brouwer, AP; Temudo, T; Jorge, P;
PUBLISHED: 2020, SOURCE: FRONTIERS IN GENETICS, VOLUME: 11
13
TITLE: Development and Validation of a Mathematical Model to Predict the Complexity of FMR1 Allele Combinations Full Text
AUTHORS: Rodrigues, B; Vale Fernandes, E; Maia, N; Santos, F; Marques, I; Santos, R; Nogueira, AJA; Jorge, P;
PUBLISHED: 2020, SOURCE: FRONTIERS IN GENETICS, VOLUME: 11
AUTHORS: Rodrigues, B; Vale Fernandes, E; Maia, N; Santos, F; Marques, I; Santos, R; Nogueira, AJA; Jorge, P;
PUBLISHED: 2020, SOURCE: FRONTIERS IN GENETICS, VOLUME: 11
14
TITLE: alpha IIb beta 3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum Full Text
AUTHORS: Morais, S ; Oliveira, J; Lau, C ; Pereira, M; Goncalves, M; Monteiro, C; Goncalves, AR ; Matos, R; Sampaio, M; Cruz, E; Freitas, I; Santos, R; Lima, M ;
PUBLISHED: 2020, SOURCE: PLOS ONE, VOLUME: 15, ISSUE: 12
AUTHORS: Morais, S ; Oliveira, J; Lau, C ; Pereira, M; Goncalves, M; Monteiro, C; Goncalves, AR ; Matos, R; Sampaio, M; Cruz, E; Freitas, I; Santos, R; Lima, M ;
PUBLISHED: 2020, SOURCE: PLOS ONE, VOLUME: 15, ISSUE: 12
15
TITLE: Novel TP-PCR based detection of repeats within AFF2 gene (FRAXE) and accurate homozygous identification Full Text
AUTHORS: Cecilia Silva; Flavia Santos; Barbara Rodrigues; Nuno Maia; Isabel Marques; Rosario Santos; Paula Jorge;
PUBLISHED: 2020, SOURCE: 23rd Annual Meeting of the Portuguese-Society-of-Human-Genetics in MEDICINE, VOLUME: 99, ISSUE: 9
AUTHORS: Cecilia Silva; Flavia Santos; Barbara Rodrigues; Nuno Maia; Isabel Marques; Rosario Santos; Paula Jorge;
PUBLISHED: 2020, SOURCE: 23rd Annual Meeting of the Portuguese-Society-of-Human-Genetics in MEDICINE, VOLUME: 99, ISSUE: 9
INDEXED IN: 
WOS
WOS IN MY: 
ORCID
ORCID16
TITLE: 2q31.1 microdeletion syndrome: mapping the clinical phenotype
AUTHORS: Rodrigues, R; Santos, R; Custódio, S; Dupont, J; Moldovan, O; Travessa, A; Soares, M; Macedo, A; Sousa, A; Sousa, AB;
PUBLISHED: 2020, SOURCE: MEDICINE, VOLUME: 99, ISSUE: 9
AUTHORS: Rodrigues, R; Santos, R; Custódio, S; Dupont, J; Moldovan, O; Travessa, A; Soares, M; Macedo, A; Sousa, A; Sousa, AB;
PUBLISHED: 2020, SOURCE: MEDICINE, VOLUME: 99, ISSUE: 9
INDEXED IN: WOS
WOS IN MY: ORCID
ORCID17
TITLE: EMQN best practice guidelines for genetic testing in dystrophinopathies
AUTHORS: Carl Fratter; Raymond Dalgleish; Stephanie K Allen; Rosário Santos; Stephen Abbs; Sylvie Tuffery-Giraud; Alessandra Ferlini;
PUBLISHED: 2020, SOURCE: European Journal of Human Genetics, VOLUME: 28, ISSUE: 9
AUTHORS: Carl Fratter; Raymond Dalgleish; Stephanie K Allen; Rosário Santos; Stephen Abbs; Sylvie Tuffery-Giraud; Alessandra Ferlini;
PUBLISHED: 2020, SOURCE: European Journal of Human Genetics, VOLUME: 28, ISSUE: 9
18
TITLE: Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing
AUTHORS: Bastida, JM; Morais, S; Palma Barqueros, V; Benito, R; Bermejo, N; Karkucak, M; Trapero Marugan, M; Bohdan, N; Pereira, M; Marin Quilez, A; Oliveira, J; Yucel, Y; Santos, R; Padilla, J; Janusz, K; Lau, C; Martin Izquierdo, M; Couto, E; Ruiz Pividal, JF; Vicente, V; ...More
PUBLISHED: 2019, SOURCE: ANNALS OF MEDICINE, VOLUME: 51, ISSUE: 2
AUTHORS: Bastida, JM; Morais, S; Palma Barqueros, V; Benito, R; Bermejo, N; Karkucak, M; Trapero Marugan, M; Bohdan, N; Pereira, M; Marin Quilez, A; Oliveira, J; Yucel, Y; Santos, R; Padilla, J; Janusz, K; Lau, C; Martin Izquierdo, M; Couto, E; Ruiz Pividal, JF; Vicente, V; ...More
PUBLISHED: 2019, SOURCE: ANNALS OF MEDICINE, VOLUME: 51, ISSUE: 2
19
TITLE: Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproduction Full Text
AUTHORS: Pereira, R ; Oliveira, ME ; Santos, R; Elsa Oliveira ; Barbosa, T; Santos, T; Goncalves, P; Ferraz, L; Pinto, S; Barros, A ; Oliveira, J ; Sousa, M ;
PUBLISHED: 2019, SOURCE: JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, VOLUME: 36, ISSUE: 8
AUTHORS: Pereira, R ; Oliveira, ME ; Santos, R; Elsa Oliveira ; Barbosa, T; Santos, T; Goncalves, P; Ferraz, L; Pinto, S; Barros, A ; Oliveira, J ; Sousa, M ;
PUBLISHED: 2019, SOURCE: JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, VOLUME: 36, ISSUE: 8
20
TITLE: Haplotype analysis of newly diagnosed Portuguese and Brazilian families with fibrinogen amyloidosis caused by the FGA p.Glu545Val variant
AUTHORS: Tavares, I ; Oliveira, ME; Maia, N; Moreira, L; Lacerda, PC; Santos, J; Santos, R; Costa, PP ; Lobato, L;
PUBLISHED: 2019, SOURCE: 16th International Symposium on Amyloidosis (ISA) in AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, VOLUME: 26, ISSUE: sup1
AUTHORS: Tavares, I ; Oliveira, ME; Maia, N; Moreira, L; Lacerda, PC; Santos, J; Santos, R; Costa, PP ; Lobato, L;
PUBLISHED: 2019, SOURCE: 16th International Symposium on Amyloidosis (ISA) in AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, VOLUME: 26, ISSUE: sup1
