Ana Berta da Fonseca Vieira Álvares e Sousa Ferrand de Almeida
AuthID: R-002-8QK
41
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
42
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
43
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
44
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
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ORCID
ORCID45
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
46
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
47
TITLE: An Autosomal Recessive Syndrome of Joint Contractures, Muscular Atrophy, Microcytic Anemia, and Panniculitis-Associated Lipodystrophy
AUTHORS: Abhimanyu Garg; Maria D Dolores Hernandez; Ana Berta Sousa; Lalitha Subramanyam; Laura M Martinez de Villarreal; Heloisa G dos Santos; Oralia Barboza;
PUBLISHED: 2010, SOURCE: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, VOLUME: 95, ISSUE: 9
AUTHORS: Abhimanyu Garg; Maria D Dolores Hernandez; Ana Berta Sousa; Lalitha Subramanyam; Laura M Martinez de Villarreal; Heloisa G dos Santos; Oralia Barboza;
PUBLISHED: 2010, SOURCE: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, VOLUME: 95, ISSUE: 9
48
TITLE: Clinical and Molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal Full Text
AUTHORS: Almeida, MR; Campos Xavier, AB; Medeira, A; Cordeiro, I; Sousa, AB; Lima, M; Soares, G; Rocha, M; Saraiva, J; Ramos, L; Sousa, S; Marcelino, JP; Correia, A; Santos, HG;
PUBLISHED: 2009, SOURCE: CLINICAL GENETICS, VOLUME: 75, ISSUE: 2
AUTHORS: Almeida, MR; Campos Xavier, AB; Medeira, A; Cordeiro, I; Sousa, AB; Lima, M; Soares, G; Rocha, M; Saraiva, J; Ramos, L; Sousa, S; Marcelino, JP; Correia, A; Santos, HG;
PUBLISHED: 2009, SOURCE: CLINICAL GENETICS, VOLUME: 75, ISSUE: 2
49
TITLE: Familial stenosis of the pulmonary artery branches with a JAG1 mutation [Estenose familiar dos ramos da artéria pulmonar com mutaçäo em JAG1]
AUTHORS: Sousa, AB; Medeira, A; Kamath, BM; Spinner, NB; Cordeiro, I;
PUBLISHED: 2006, SOURCE: Revista Portuguesa de Cardiologia, VOLUME: 25, ISSUE: 4
AUTHORS: Sousa, AB; Medeira, A; Kamath, BM; Spinner, NB; Cordeiro, I;
PUBLISHED: 2006, SOURCE: Revista Portuguesa de Cardiologia, VOLUME: 25, ISSUE: 4
INDEXED IN: Scopus
Scopus IN MY: ORCID
ORCID50
TITLE: Common germinal-center B-cell origin of the malignant cells in two composite lymphomas, involving classical hodgkin's disease and either follicular lymphoma or B-CLL
AUTHORS: Kuppers, R; Sousa, AB; Baur, AS; Strickler, JG; Rajewsky, K; Hansmann, ML;
PUBLISHED: 2001, SOURCE: Molecular Medicine, VOLUME: 7, ISSUE: 5
AUTHORS: Kuppers, R; Sousa, AB; Baur, AS; Strickler, JG; Rajewsky, K; Hansmann, ML;
PUBLISHED: 2001, SOURCE: Molecular Medicine, VOLUME: 7, ISSUE: 5
INDEXED IN: Scopus
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ORCID