Distribution and phenotype ofGJB2mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss-Reference-Cited by-同舟云学术

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Distribution and phenotype ofGJB2mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss

Published:2014-05-05 Issue:8 Volume:53 Page:558-563
ISSN:1499-2027
Container-title:International Journal of Audiology
language:en
Short-container-title:International Journal of Audiology

Author:

Salvago Pietro,Martines Enrico,La Mattina Eleonora,Mucia Marianna,Sammarco Pietro,Sireci Federico,Martines Francesco

Publisher

Informa UK Limited

Subject

Speech and Hearing,Linguistics and Language,Language and Linguistics

Link

http://www.tandfonline.com/doi/pdf/10.3109/14992027.2014.905717

Reference42 articles.

1. The analysis of three markers flanking GJB2 gene suggests a single origin of the most common 35delG mutation in the Moroccan population

2. Nonsyndromic Hereditary Hearing Loss

3. Year 2007 Position Statement: Principles and Guidelines for Early Hearing Detection and Intervention Programs

4. Molecular screening of deafness in Algeria: High genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations;Frontiers in Genetics;2018-12-21

2. GJB2 mutations in Turkish patients with nonsyndromic hearing loss;Meta Gene;2016-12

3. Associations Between TGFA/TGFB3/MSX1 Gene Polymorphisms and Congenital Non-Syndromic Hearing Impairment in a Chinese Population;Medical Science Monitor;2016-06-29

4. Prevalence and audiological profiles of GJB2 mutations in a large collective of hearing impaired patients;Hearing Research;2016-03

5. Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily;Annals of Human Genetics;2015-06-19

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