Ana Berta da Fonseca Vieira Álvares e Sousa Ferrand de Almeida
AuthID: R-002-8QK
61
TITLE: Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta. BMP1 MUTATIONS AND SEVERE OSTEOGENESIS IMPERFECTA Full Text
AUTHORS: Delfien Syx; Brecht Guillemyn; Sofie Symoens; Ana Berta Sousa; Ana Medeira; Margo Whiteford; Trinh Hermanns Le; Paul J Coucke; Anne De Paepe; Fransiska Malfait;
PUBLISHED: 2015, SOURCE: JOURNAL OF BONE AND MINERAL RESEARCH, VOLUME: 30, ISSUE: 8
AUTHORS: Delfien Syx; Brecht Guillemyn; Sofie Symoens; Ana Berta Sousa; Ana Medeira; Margo Whiteford; Trinh Hermanns Le; Paul J Coucke; Anne De Paepe; Fransiska Malfait;
PUBLISHED: 2015, SOURCE: JOURNAL OF BONE AND MINERAL RESEARCH, VOLUME: 30, ISSUE: 8
62
TITLE: Neonatal McCune-Albright syndrome with systemic involvement: A case report
AUTHORS: Lourenco, R; Dias, P; Gouveia, R; Sousa, AB; Oliveira, G;
PUBLISHED: 2015, SOURCE: Journal of Medical Case Reports, VOLUME: 9, ISSUE: 1
AUTHORS: Lourenco, R; Dias, P; Gouveia, R; Sousa, AB; Oliveira, G;
PUBLISHED: 2015, SOURCE: Journal of Medical Case Reports, VOLUME: 9, ISSUE: 1
INDEXED IN: 
Scopus
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ORCID
ORCID63
TITLE: A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure. A Case Report and Mutation Update
AUTHORS: Maria Inês Alvelos; Magda Rodrigues; Luísa Lobo; Ana Medeira; Ana Berta Sousa; Carla Simão; Manuel Carlos Lemos;
PUBLISHED: 2015, SOURCE: Medicine (United States), VOLUME: 94, ISSUE: 7
AUTHORS: Maria Inês Alvelos; Magda Rodrigues; Luísa Lobo; Ana Medeira; Ana Berta Sousa; Carla Simão; Manuel Carlos Lemos;
PUBLISHED: 2015, SOURCE: Medicine (United States), VOLUME: 94, ISSUE: 7
64
TITLE: Neonatal McCune–Albright syndrome with systemic involvement: a case report Full Text
AUTHORS: Rita Lourenço; Patrícia Dias; Raquel Gouveia; Ana Berta Sousa; Graça Oliveira;
PUBLISHED: 2015, SOURCE: J Med Case Reports - Journal of Medical Case Reports, VOLUME: 9, ISSUE: 1
AUTHORS: Rita Lourenço; Patrícia Dias; Raquel Gouveia; Ana Berta Sousa; Graça Oliveira;
PUBLISHED: 2015, SOURCE: J Med Case Reports - Journal of Medical Case Reports, VOLUME: 9, ISSUE: 1
65
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
66
TITLE: Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal. Correspondence Full Text
AUTHORS: Esposito, G; De Falco, F; Neri, I; Graziano, C; Toschi, B; Auricchio, L; Gouveia, C; Sousa, AB; Salvatore, F;
PUBLISHED: 2013, SOURCE: BRITISH JOURNAL OF DERMATOLOGY, VOLUME: 168, ISSUE: 6
AUTHORS: Esposito, G; De Falco, F; Neri, I; Graziano, C; Toschi, B; Auricchio, L; Gouveia, C; Sousa, AB; Salvatore, F;
PUBLISHED: 2013, SOURCE: BRITISH JOURNAL OF DERMATOLOGY, VOLUME: 168, ISSUE: 6
67
TITLE: Osteomesopyknosis: An incidental discovery due to back pain Full Text
AUTHORS: Joao Madruga Dias; Maria Manuela Costa; Schaller Dias; Alvaro Almeida;
PUBLISHED: 2013, SOURCE: JOINT BONE SPINE, VOLUME: 80, ISSUE: 2
AUTHORS: Joao Madruga Dias; Maria Manuela Costa; Schaller Dias; Alvaro Almeida;
PUBLISHED: 2013, SOURCE: JOINT BONE SPINE, VOLUME: 80, ISSUE: 2
68
TITLE: Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population Full Text
AUTHORS: Barbosaa, M; Sousa, AB; Medeira, A; Lourenco, T; Saraiva, J; Pinto Basto, J; Soares, G; Fortuna, AM; Superti Furga, A; Mittaz, L; Reis Lima, M; Bonafe, L;
PUBLISHED: 2011, SOURCE: CLINICAL GENETICS, VOLUME: 80, ISSUE: 6
AUTHORS: Barbosaa, M; Sousa, AB; Medeira, A; Lourenco, T; Saraiva, J; Pinto Basto, J; Soares, G; Fortuna, AM; Superti Furga, A; Mittaz, L; Reis Lima, M; Bonafe, L;
PUBLISHED: 2011, SOURCE: CLINICAL GENETICS, VOLUME: 80, ISSUE: 6
INDEXED IN: Scopus 
WOS
Scopus WOS69
TITLE: Phenotypic Analysis of Individuals With Costello Syndrome due to HRAS p.G13C Full Text
AUTHORS: Karen W Gripp; Elizabeth Hopkins; Katia Sol Church; Deborah L Stabley; Marni E Axelrad; Daniel Doyle; William B Dobyns; Cindy Hudson; John Johnson; Romano Tenconi; Gail E Graham; Ana Berta Sousa; Raoul Heller; Maria Piccione; Giovanni Corsello; Gail E Herman; Marco Tartaglia; Angela E Lin;
PUBLISHED: 2011, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 155A, ISSUE: 4
AUTHORS: Karen W Gripp; Elizabeth Hopkins; Katia Sol Church; Deborah L Stabley; Marni E Axelrad; Daniel Doyle; William B Dobyns; Cindy Hudson; John Johnson; Romano Tenconi; Gail E Graham; Ana Berta Sousa; Raoul Heller; Maria Piccione; Giovanni Corsello; Gail E Herman; Marco Tartaglia; Angela E Lin;
PUBLISHED: 2011, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 155A, ISSUE: 4
70
TITLE: PSMB8 Encoding the beta 5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome
AUTHORS: Anil K Agarwal; Chao Xing; George N DeMartino; Dario Mizrachi; Maria D Dolores Hernandez; Ana Berta Sousa; Laura M Martinez de Villarreal; Heloisa G dos Santos; Abhimanyu Garg;
PUBLISHED: 2010, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 87, ISSUE: 6
AUTHORS: Anil K Agarwal; Chao Xing; George N DeMartino; Dario Mizrachi; Maria D Dolores Hernandez; Ana Berta Sousa; Laura M Martinez de Villarreal; Heloisa G dos Santos; Abhimanyu Garg;
PUBLISHED: 2010, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 87, ISSUE: 6
