Ana Berta da Fonseca Vieira Álvares e Sousa Ferrand de Almeida
AuthID: R-002-8QK
51
TITLE: Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes. ReCQL4 mutations in 39 patients Full Text
AUTHORS: Piard, J; Aral, B; Vabres, P; Holder Espinasse, M; Megarbane, A; Gauthier, S; Capra, V; Pierquin, G; Callier, P; Baumann, C; Pasquier, L; Baujat, G; Martorell, L; Rodriguez, A; Brady, AF; Boralevi, F; Gonzalez Ensenat, MA; Rio, M; Bodemer, C; Philip, N; ...More
PUBLISHED: 2015, SOURCE: CLINICAL GENETICS, VOLUME: 87, ISSUE: 3
AUTHORS: Piard, J; Aral, B; Vabres, P; Holder Espinasse, M; Megarbane, A; Gauthier, S; Capra, V; Pierquin, G; Callier, P; Baumann, C; Pasquier, L; Baujat, G; Martorell, L; Rodriguez, A; Brady, AF; Boralevi, F; Gonzalez Ensenat, MA; Rio, M; Bodemer, C; Philip, N; ...More
PUBLISHED: 2015, SOURCE: CLINICAL GENETICS, VOLUME: 87, ISSUE: 3
52
TITLE: Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes Full Text
AUTHORS: Ana Justino; Patricia Dias; Maria Joao Pina; Sonia Sousa; Luis Cirnes; Ana Berta Sousa; Jose Carlos Machado ; Jose Luis Costa;
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 3
AUTHORS: Ana Justino; Patricia Dias; Maria Joao Pina; Sonia Sousa; Luis Cirnes; Ana Berta Sousa; Jose Carlos Machado ; Jose Luis Costa;
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 3
53
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
54
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
Scopus IN MY: 
ORCID
ORCID55
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
56
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
57
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
58
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
59
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
60
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 WOS