1 resultado para Non-syndromic hearing loss
em Repositório do Centro Hospitalar de Lisboa Central, EPE - Centro Hospitalar de Lisboa Central, EPE, Portugal
Filtro por publicador
- KUPS-Datenbank - Universität zu Köln - Kölner UniversitätsPublikationsServer (1)
- Repository Napier (3)
- Aberdeen University (1)
- Abertay Research Collections - Abertay University’s repository (1)
- AMS Tesi di Dottorato - Alm@DL - Università di Bologna (4)
- Aquatic Commons (1)
- ArchiMeD - Elektronische Publikationen der Universität Mainz - Alemanha (1)
- Archive of European Integration (1)
- Archivo Digital para la Docencia y la Investigación - Repositorio Institucional de la Universidad del País Vasco (2)
- Aston University Research Archive (33)
- B-Digital - Universidade Fernando Pessoa - Portugal (2)
- Biblioteca de Teses e Dissertações da USP (11)
- Biblioteca Digital | Sistema Integrado de Documentación | UNCuyo - UNCUYO. UNIVERSIDAD NACIONAL DE CUYO. (1)
- Biblioteca Digital da Produção Intelectual da Universidade de São Paulo (68)
- Biblioteca Digital da Produção Intelectual da Universidade de São Paulo (BDPI/USP) (8)
- Bioline International (5)
- BORIS: Bern Open Repository and Information System - Berna - Suiça (76)
- Brock University, Canada (1)
- Bucknell University Digital Commons - Pensilvania - USA (1)
- Cambridge University Engineering Department Publications Database (12)
- CentAUR: Central Archive University of Reading - UK (24)
- Chinese Academy of Sciences Institutional Repositories Grid Portal (10)
- Cochin University of Science & Technology (CUSAT), India (2)
- Coffee Science - Universidade Federal de Lavras (4)
- CORA - Cork Open Research Archive - University College Cork - Ireland (2)
- Deakin Research Online - Australia (36)
- Digital Commons - Michigan Tech (1)
- Digital Commons at Florida International University (7)
- DigitalCommons@The Texas Medical Center (10)
- Doria (National Library of Finland DSpace Services) - National Library of Finland, Finland (1)
- DRUM (Digital Repository at the University of Maryland) (2)
- Duke University (5)
- eResearch Archive - Queensland Department of Agriculture; Fisheries and Forestry (2)
- FUNDAJ - Fundação Joaquim Nabuco (3)
- Greenwich Academic Literature Archive - UK (1)
- Helda - Digital Repository of University of Helsinki (8)
- Hospitais da Universidade de Coimbra (2)
- Indian Institute of Science - Bangalore - Índia (17)
- Instituto Politécnico de Castelo Branco - Portugal (1)
- Instituto Politécnico de Viseu (1)
- Instituto Politécnico do Porto, Portugal (2)
- Lume - Repositório Digital da Universidade Federal do Rio Grande do Sul (2)
- Massachusetts Institute of Technology (1)
- Ministerio de Cultura, Spain (1)
- National Center for Biotechnology Information - NCBI (8)
- Publishing Network for Geoscientific & Environmental Data (2)
- QSpace: Queen's University - Canada (2)
- QUB Research Portal - Research Directory and Institutional Repository for Queen's University Belfast (36)
- Queensland University of Technology - ePrints Archive (103)
- RCAAP - Repositório Científico de Acesso Aberto de Portugal (1)
- Repositório Alice (Acesso Livre à Informação Científica da Embrapa / Repository Open Access to Scientific Information from Embrapa) (1)
- Repositório Científico da Universidade de Évora - Portugal (1)
- Repositório Científico do Instituto Politécnico de Lisboa - Portugal (2)
- Repositorio de la Universidad de Cuenca (2)
- Repositório digital da Fundação Getúlio Vargas - FGV (2)
- Repositório do Centro Hospitalar de Lisboa Central, EPE - Centro Hospitalar de Lisboa Central, EPE, Portugal (1)
- Repositório Institucional da Universidade Estadual de São Paulo - UNESP (1)
- Repositório Institucional da Universidade Federal de São Paulo - UNIFESP (1)
- Repositório Institucional da Universidade Federal do Rio Grande do Norte (1)
- Repositorio Institucional de la Universidad de Málaga (1)
- Repositório Institucional dos Hospitais da Universidade Coimbra (1)
- Repositório Institucional UNESP - Universidade Estadual Paulista "Julio de Mesquita Filho" (145)
- RUN (Repositório da Universidade Nova de Lisboa) - FCT (Faculdade de Cienecias e Technologia), Universidade Nova de Lisboa (UNL), Portugal (1)
- SAPIENTIA - Universidade do Algarve - Portugal (2)
- School of Medicine, Washington University, United States (65)
- Scientific Open-access Literature Archive and Repository (1)
- The Scholarly Commons | School of Hotel Administration; Cornell University Research (1)
- Universidad de Alicante (4)
- Universidad del Rosario, Colombia (14)
- Universidad Politécnica de Madrid (5)
- Universidade de Lisboa - Repositório Aberto (9)
- Universidade Federal do Pará (5)
- Universidade Federal do Rio Grande do Norte (UFRN) (9)
- Universidade Técnica de Lisboa (1)
- Universitätsbibliothek Kassel, Universität Kassel, Germany (1)
- Université de Lausanne, Switzerland (6)
- Université de Montréal (2)
- Université de Montréal, Canada (19)
- Université Laval Mémoires et thèses électroniques (1)
- University of Canberra Research Repository - Australia (4)
- University of Michigan (12)
- University of Queensland eSpace - Australia (16)
- University of Washington (2)
- WestminsterResearch - UK (4)
Resumo:
OBJECTIVE: To assess the spectrum and prevalence of mutations in the GJB2 gene in Portuguese nonsyndromic sensorineural hearing loss (NSSHL) patients. DESIGN: Sequencing of the coding region, basal promoter, exon 1, and donor splice site of the GJB2 gene; screening for the presence of the two common GJB6 deletions. STUDY SAMPLE: A cohort of 264 Portuguese NSSHL patients. RESULTS: At least one out of 21 different GJB2 variants was identified in 80 (30.2%) of the 264 patients analysed. Two mutant alleles were found in 53 (20%) of these probands, of which 83% (44/53) harboured at least one c.35delG allele. Twenty-seven (10.2%) of the probands harboured only one mutant allele. Subsequent analysis revealed that the GJB6 deletion del(GJB6-D13S1854) was present in at least 7.4% (2/27) of the patients carrying only one mutant GJB2 allele. Overall, one in five (55/264) of the patients were diagnosed as having DFNB1-related NSSHL, of which the vast majority (53/55) harboured only GJB2 mutations. CONCLUSIONS: This study provides clear demonstration that mutations in the GJB2 gene are an important cause of NSSHL in Portugal, thus representing a valuable indicator as regards therapeutical and rehabilitation options, as well as genetic counseling of these patients and their families.