Nuno Miguel da Silva Maia
AuthID: R-00H-H5S
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TITLE: Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder
AUTHORS: Maia, N; Potelle, S; Yildirim, H; Duvet, S; Akula, SK; Schulz, C; Wiame, E; Gheldof, A; O'Kane, K; Lai, A; Sermon, K; Proisy, M; Loget, P; Attie Bitach, T; Quelin, C; Fortuna, AM; Soares, AR; de Brouwer, APM; Van Schaftingen, E; Nassogne, MC; ...More
PUBLISHED: 2022, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 109, ISSUE: 2
AUTHORS: Maia, N; Potelle, S; Yildirim, H; Duvet, S; Akula, SK; Schulz, C; Wiame, E; Gheldof, A; O'Kane, K; Lai, A; Sermon, K; Proisy, M; Loget, P; Attie Bitach, T; Quelin, C; Fortuna, AM; Soares, AR; de Brouwer, APM; Van Schaftingen, E; Nassogne, MC; ...More
PUBLISHED: 2022, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 109, ISSUE: 2
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TITLE: Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22-related Ritscher-Schinzel syndromes
AUTHORS: Neri, Sabrina; Maia, Nuno; Fortuna, Ana M.; Damasio, Joana; Coale, Elizabeth; Willis, Mary; Jorge, Paula; Hojte, Anne F.; Fenger, Christina D.; Moller, Rikke S.; Bayat, Allan;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 65, ISSUE: 11
AUTHORS: Neri, Sabrina; Maia, Nuno; Fortuna, Ana M.; Damasio, Joana; Coale, Elizabeth; Willis, Mary; Jorge, Paula; Hojte, Anne F.; Fenger, Christina D.; Moller, Rikke S.; Bayat, Allan;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 65, ISSUE: 11
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TITLE: Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes
AUTHORS: Nuno Maia; Nekane Ibarluzea; Mala Misra‐Isrie; Daniel C Koboldt; Isabel Marques; Gabriela Soares; Rosário Santos; Carlo L M Marcelis; Riikka Keski‐Filppula; Miriam Guitart; Elisabeth Gabau Vila; April Lehman; Scott Hickey; Mari Mori; Paulien Terhal; Irene Valenzuela; Amaia Lasa‐Aranzasti; Anna Maria Cueto‐González; Brian H Chhouk; Rebecca C Yeh; ...More
PUBLISHED: 2022, SOURCE: American Journal of Medical Genetics Part A, VOLUME: 191, ISSUE: 1
AUTHORS: Nuno Maia; Nekane Ibarluzea; Mala Misra‐Isrie; Daniel C Koboldt; Isabel Marques; Gabriela Soares; Rosário Santos; Carlo L M Marcelis; Riikka Keski‐Filppula; Miriam Guitart; Elisabeth Gabau Vila; April Lehman; Scott Hickey; Mari Mori; Paulien Terhal; Irene Valenzuela; Amaia Lasa‐Aranzasti; Anna Maria Cueto‐González; Brian H Chhouk; Rebecca C Yeh; ...More
PUBLISHED: 2022, SOURCE: American Journal of Medical Genetics Part A, VOLUME: 191, ISSUE: 1
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TITLE: Development and validation in 500 female samples of a TP-PCR assay to identify AFF2 GCC expansions
AUTHORS: Silva, C; Maia, N; Santos, F; Rodrigues, B; Marques, I; Santos, R; Jorge, P;
PUBLISHED: 2021, SOURCE: SCIENTIFIC REPORTS, VOLUME: 11, ISSUE: 1
AUTHORS: Silva, C; Maia, N; Santos, F; Rodrigues, B; Marques, I; Santos, R; Jorge, P;
PUBLISHED: 2021, SOURCE: SCIENTIFIC REPORTS, VOLUME: 11, ISSUE: 1
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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
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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
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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
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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
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TITLE: Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome
AUTHORS: Maia, N; Sa, MJN ; Tkachenko, N; Soares, G; Marques, I; Rodrigues, B; Fortuna, AM; Santos, R; de Brouwer, APM; Jorge, P;
PUBLISHED: 2018, SOURCE: MOLECULAR SYNDROMOLOGY, VOLUME: 9, ISSUE: 1
AUTHORS: Maia, N; Sa, MJN ; Tkachenko, N; Soares, G; Marques, I; Rodrigues, B; Fortuna, AM; Santos, R; de Brouwer, APM; Jorge, P;
PUBLISHED: 2018, SOURCE: MOLECULAR SYNDROMOLOGY, VOLUME: 9, ISSUE: 1
