Ana Berta da Fonseca Vieira Álvares e Sousa Ferrand de Almeida
AuthID: R-002-8QK
41
TITLE: Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders
AUTHORS: Juliette Dupont; José Pedro Vieira; Ana Lisa Taylor Tavares; Carla Ribeiro Conceição; Suliman Khan; Aida Maria Bertoli‐Avella; Ana Berta Sousa;
PUBLISHED: 2021, SOURCE: Clinical Genetics, VOLUME: 99, ISSUE: 4
AUTHORS: Juliette Dupont; José Pedro Vieira; Ana Lisa Taylor Tavares; Carla Ribeiro Conceição; Suliman Khan; Aida Maria Bertoli‐Avella; Ana Berta Sousa;
PUBLISHED: 2021, SOURCE: Clinical Genetics, VOLUME: 99, ISSUE: 4
42
TITLE: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder
AUTHORS: Shieh, C; Jones, N; Vanle, B; Au, M; Huang, AY; Silva, APG; Lee, H; Douine, ED; Otero, MG; Choi, A; Grand, K; Taff, IP; Delgado, MR; Hajianpour, MJ; Seeley, A; Rohena, L; Vernon, H; Gripp, KW; Vergano, SA; Mahida, S; ...More
PUBLISHED: 2020, SOURCE: GENETICS IN MEDICINE, VOLUME: 22, ISSUE: 5
AUTHORS: Shieh, C; Jones, N; Vanle, B; Au, M; Huang, AY; Silva, APG; Lee, H; Douine, ED; Otero, MG; Choi, A; Grand, K; Taff, IP; Delgado, MR; Hajianpour, MJ; Seeley, A; Rohena, L; Vernon, H; Gripp, KW; Vergano, SA; Mahida, S; ...More
PUBLISHED: 2020, SOURCE: GENETICS IN MEDICINE, VOLUME: 22, ISSUE: 5
43
TITLE: VRK1 variants in two Portuguese unrelated patients with childhood-onset motor neuron disease
AUTHORS: Silva, DP; Sa, MSE; Silveira, F; Pinto, S; Gromicho, M; Sousa, AB; Leao, M; De Carvalho, M;
PUBLISHED: 2020, SOURCE: AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, VOLUME: 21, ISSUE: 3-4
AUTHORS: Silva, DP; Sa, MSE; Silveira, F; Pinto, S; Gromicho, M; Sousa, AB; Leao, M; De Carvalho, M;
PUBLISHED: 2020, SOURCE: AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, VOLUME: 21, ISSUE: 3-4
44
TITLE: Ngly1 deficiency—a rare congenital disorder of deglycosylation
AUTHORS: Lipari Pinto, P; Machado, C; Janeiro, P; Dupont, J; Quintas, S; Berta Sousa, A; Gaspar, A;
PUBLISHED: 2020, SOURCE: JIMD Reports, VOLUME: 53, ISSUE: 1
AUTHORS: Lipari Pinto, P; Machado, C; Janeiro, P; Dupont, J; Quintas, S; Berta Sousa, A; Gaspar, A;
PUBLISHED: 2020, SOURCE: JIMD Reports, VOLUME: 53, ISSUE: 1
45
TITLE: Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare typeIIcollagenopathy
AUTHORS: Travessa, AM; Diaz Gonzalez, F; Mirco, T; Oliveira Ramos, F; Parron Pajares, M; Heath, KE; Sousa, AB;
PUBLISHED: 2020, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 182, ISSUE: 11
AUTHORS: Travessa, AM; Diaz Gonzalez, F; Mirco, T; Oliveira Ramos, F; Parron Pajares, M; Heath, KE; Sousa, AB;
PUBLISHED: 2020, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 182, ISSUE: 11
46
TITLE: New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV
AUTHORS: Peter, VG; Quinodoz, M; Sadio, S; Held, S; Rodrigues, M; Soares, M; Sousa, AB; Coutinho Santos, L; Damme, M; Rivolta, C;
PUBLISHED: 2020, SOURCE: Human Mutation, VOLUME: 42, ISSUE: 3
AUTHORS: Peter, VG; Quinodoz, M; Sadio, S; Held, S; Rodrigues, M; Soares, M; Sousa, AB; Coutinho Santos, L; Damme, M; Rivolta, C;
PUBLISHED: 2020, SOURCE: Human Mutation, VOLUME: 42, ISSUE: 3
47
TITLE: A fetus with an immature umbilical cord teratoma associated with exomphalos: case report and review of the literature
AUTHORS: Travessa, AM; Santo, S; Luis, R; Afonso, MC; Carvalho, R; Vitorino, E; Sousa, AB;
PUBLISHED: 2020, SOURCE: ROMANIAN JOURNAL OF MORPHOLOGY AND EMBRYOLOGY, VOLUME: 61, ISSUE: 3
AUTHORS: Travessa, AM; Santo, S; Luis, R; Afonso, MC; Carvalho, R; Vitorino, E; Sousa, AB;
PUBLISHED: 2020, SOURCE: ROMANIAN JOURNAL OF MORPHOLOGY AND EMBRYOLOGY, VOLUME: 61, ISSUE: 3
48
TITLE: Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder
AUTHORS: Christine Shieh; Natasha Jones; Brigitte Vanle; Margaret Au; Alden Y Huang; Ana P.G Silva; Hane Lee; Emilie D Douine; Maria G Otero; Andrew Choi; Katheryn Grand; Ingrid P Taff; Mauricio R Delgado; M.J Hajianpour; Andrea Seeley; Luis Rohena; Hilary Vernon; Karen W Gripp; Samantha A Vergano; Sonal Mahida; ...More
PUBLISHED: 2020, SOURCE: Genetics in Medicine, VOLUME: 22, ISSUE: 4
AUTHORS: Christine Shieh; Natasha Jones; Brigitte Vanle; Margaret Au; Alden Y Huang; Ana P.G Silva; Hane Lee; Emilie D Douine; Maria G Otero; Andrew Choi; Katheryn Grand; Ingrid P Taff; Mauricio R Delgado; M.J Hajianpour; Andrea Seeley; Luis Rohena; Hilary Vernon; Karen W Gripp; Samantha A Vergano; Sonal Mahida; ...More
PUBLISHED: 2020, SOURCE: Genetics in Medicine, VOLUME: 22, ISSUE: 4
49
TITLE: Early onset non-syndromic retinal degeneration due to variants in INPP5E: phenotypic expansion of the ciliary gene previously associated with Joubert syndrome
AUTHORS: Riccardo Sangermano; Iris Deitch; Virginie G Peter; Rola Ba-Abbad; Emily M Place; Naomi E Wagner; Anne B Fulton; Luisa Coutinho-Santos; Boris Rosin; Vincent Dunet; Ala’a AlTalbishi; Eyal Banin; Ana Berta Sousa; Mariana Neves; Anna Larson; Mathieu Quinodoz; Michel Michaelides; Tamar Ben-Yosef; Eric A Pierce; Carlo Rivolta; ...More
PUBLISHED: 2020
AUTHORS: Riccardo Sangermano; Iris Deitch; Virginie G Peter; Rola Ba-Abbad; Emily M Place; Naomi E Wagner; Anne B Fulton; Luisa Coutinho-Santos; Boris Rosin; Vincent Dunet; Ala’a AlTalbishi; Eyal Banin; Ana Berta Sousa; Mariana Neves; Anna Larson; Mathieu Quinodoz; Michel Michaelides; Tamar Ben-Yosef; Eric A Pierce; Carlo Rivolta; ...More
PUBLISHED: 2020
50
TITLE: Encefalopatias Epilépticas Infantis: O Novo Paradigma do Diagnóstico Genético
AUTHORS: Rita Martins; Oana Moldovan; Ana Berta Sousa; António Levy; Sofia Quintas;
PUBLISHED: 2020, SOURCE: Acta Médica Portuguesa, VOLUME: 33, ISSUE: 6
AUTHORS: Rita Martins; Oana Moldovan; Ana Berta Sousa; António Levy; Sofia Quintas;
PUBLISHED: 2020, SOURCE: Acta Médica Portuguesa, VOLUME: 33, ISSUE: 6
