Detection of the 35delG/GJB2 and del(GJB6-D13S1830) Mutations in Venezuelan Patients with Autosomal Recessive Nonsyndromic Hearing Loss-Reference-Cited by-同舟云学术

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Detection of the 35delG/GJB2 and del(GJB6-D13S1830) Mutations in Venezuelan Patients with Autosomal Recessive Nonsyndromic Hearing Loss

Published:2007-12 Issue:4 Volume:11 Page:347-352
ISSN:1090-6576
Container-title:Genetic Testing
language:en
Short-container-title:Genetic Testing

Author:

Utrera René¹,Ridaura Vanessa¹,Rodríguez Yuryanni¹,Rojas Maria J.¹,Mago Leomig¹,Angeli Simón²,Henríquez Oswaldo³

Affiliation:

1. Departamento de Biología Celular, Universidad Simón Bolívar, Caracas, Venezuela 1081-A.

2. Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33101.

3. Departamento de Otorinolaringología, Hospital San Juan de Dios, Caracas, Venezuela 1081-A.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical)

Link

http://www.liebertpub.com/doi/pdf/10.1089/gte.2006.0526

Reference23 articles.

1. GJB2 Gene Mutations in Childhood Deafness

2. Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6

3. Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients

4. A Deletion Involving the Connexin 30 Gene in Nonsyndromic Hearing Impairment

5. Prevalence and Evolutionary Origins of the del(GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study

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1. Genetic etiology of non-syndromic hearing loss in Latin America;Human Genetics;2021-10-15

2. Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss;Human Genetics;2021-10-01

3. Analyses of del(GJB6‐D13S1830) and del(GJB6‐D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families;Molecular Genetics & Genomic Medicine;2020-02-17

4. Systematic Review of Pathogenic GJB2 Variants in the Latino Population;Otology & Neurotology;2020-02

5. Identification of Main Genetic Causes Responsible for Non-Syndromic Hearing Loss in a Peruvian Population;Genes;2019-07-31

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