Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily-Reference-Cited by-同舟云学术

Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily

Published:2015-06-19 Issue:5 Volume:79 Page:341-349
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Amorini Maria¹,Romeo Petronilla¹,Bruno Rocco²,Galletti Francesco²,Di Bella Chiara¹,Longo Patrizia²,Briuglia Silvana¹,Salpietro Carmelo¹,Rigoli Luciana¹

Affiliation:

1. Department of Paediatrics; University of Messina; Italy

2. Department of Experimental Medical-Surgery, Specialist and Odontostomatological Science, Otorhinolaringology and Auditory Microsurgery Unit; University of Messina; Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ahg.12120/fullpdf

Reference49 articles.

1. Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity;Angeli;Laryngoscope,2008

2. High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness;Antoniadi;Clin Genet,1999

3. GJB2 mutations and genotype-phenotype correlation in 335 patients from germany with nonsyndromic sensorineural hearing loss: Evidence for additional recessive mutations not detected by current methods;Bartsch;Audiol Neurootol,2010

4. Prevalence of the GJB2 mutations and the del(GJB6-D13S1830) mutation in Brazilian patients with deafness;Belintani Piatto;Hear Res,2004

5. Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome;Ben Said;Int J Pediatr Otorhinolaryngol,2012

Cited by 18 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. Frequency of c.35delG Mutation in GJB2 gene in Patients with Autosomal Recessive Non-Syndromic Hearing Loss of Five Ethnic Groups in Golestan, Iran;INT J PEDIATR-MASSHA;2023

2. GJB2-RELATED NON-SYNDROMIC HEARING LOSS VARIANTS’ SPECTRUM AND THEIR FREQUENCY IN TURKISH POPULATION;Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi;2022-02-16

3. Probability of high-risk genetic matching with oocyte and semen donors: complete gene analysis or genotyping test?;Journal of Assisted Reproduction and Genetics;2022-01-29

4. Genetic etiology of non-syndromic hearing loss in Europe;Human Genetics;2022-01-19

5. The frequency of the homozygote 35delG mutation in the connexin 26 gene in North African with non-syndromic hearing loss: A meta-analysis study;Meta Gene;2021-06