Ana Berta da Fonseca Vieira Álvares e Sousa Ferrand de Almeida
AuthID: R-002-8QK
61
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
62
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
63
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
64
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
65
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
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ORCID
ORCID66
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
Scopus IN MY: ORCID
ORCID67
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: Ralf Küppers; Ana B Sousa; Audrey S Baur; John G Strickler; Klaus Rajewsky; Martin-Leo Hansmann;
PUBLISHED: 2001, SOURCE: Molecular Medicine, VOLUME: 7, ISSUE: 5
AUTHORS: Ralf Küppers; Ana B Sousa; Audrey S Baur; John G Strickler; Klaus Rajewsky; Martin-Leo Hansmann;
PUBLISHED: 2001, SOURCE: Molecular Medicine, VOLUME: 7, ISSUE: 5
68
TITLE: The gene conversion hypothesis of MHC evolution: A review Full Text
AUTHORS: Th T Martinsohn; Sousa, AB; Guethlein, LA; Howard, JC;
PUBLISHED: 1999, SOURCE: Immunogenetics, VOLUME: 50, ISSUE: 3-4
AUTHORS: Th T Martinsohn; Sousa, AB; Guethlein, LA; Howard, JC;
PUBLISHED: 1999, SOURCE: Immunogenetics, VOLUME: 50, ISSUE: 3-4
INDEXED IN: Scopus
Scopus IN MY: ORCID
ORCID69
TITLE: The gene conversion hypothesis of MHC evolution: a review
AUTHORS: Th T Martinsohn; Sousa, AB; Guethlein, LA; Howard, JC;
PUBLISHED: 1999, SOURCE: Immunogenetics, VOLUME: 50, ISSUE: 3-4
AUTHORS: Th T Martinsohn; Sousa, AB; Guethlein, LA; Howard, JC;
PUBLISHED: 1999, SOURCE: Immunogenetics, VOLUME: 50, ISSUE: 3-4
