Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
First report of an Ivorian family with nonsyndromic hearing loss caused by GJB2 compound heterozygous variants.
Toure M et al.
Annals of Human Genetics, 2025
Systematic review and meta-analysis of pathogenic GJB2 variants in the Asian population.
Ozgur Z et al.
International Journal of Pediatric Otorhinolaryngology, 2025
Analysis of clinical phenotypes and genotypes of congenital deafness caused by rare variants in GJB2.
Zhao X et al.
Frontiers in Pediatrics, 2025
Gap Junction Beta-2 p.Val84Met Can Cause Autosomal Dominant Syndromic Hearing Loss With Keratoderma.
Hashimoto K et al.
Cureus, 2024
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene.
Riza AL et al.
Genes, 2022
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.
Usami SI et al.
Human Genetics, 2022
Genetic etiology of non-syndromic hearing loss in Latin America.
Lezirovitz K et al.
Human Genetics, 2022
VIP-HL: Semi-automated ACMG/AMP variant interpretation platform for genetic hearing loss.
Peng J et al.
Human Mutation, 2021
Whole-Genome Sequencing Improves the Diagnosis of DFNB1 Monoallelic Patients.
Le Nabec A et al.
Genes, 2021
Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.
Adadey SM et al.
Life (basel, Switzerland), 2020
Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.
Yu X et al.
Orphanet Journal of Rare Diseases, 2020
Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia.
Plevova P et al.
Medicina (kaunas, Lithuania), 2018
DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.
Del Castillo FJ et al.
Frontiers in Molecular Neuroscience, 2017
Relationship Between Patients with Clinical Auditory Neuropathy Spectrum Disorder and Mutations in Gjb2 Gene.
de Carvalho GM et al.
The Open Neurology Journal, 2016
Two novel compound heterozygous families with a trimutation in the GJB2 gene causing sensorineural hearing loss.
Martínez-Saucedo M et al.
International Journal of Pediatric Otorhinolaryngology, 2015
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
Yilmaz A
Cell Biochemistry and Biophysics, 2015
The promoter mutation c.-259C>T (-3438C>T) is not a common cause of non-syndromic hearing impairment in Austria.
Koenighofer M et al.
European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2015
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
[New recurrent extended deletion, including GJB2 and GJB6 genes, results in isolated sensorineural hearing impairment with autosomal recessive type of inheritance].
Bliznets EA et al.
Genetika, 2014
Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han.
Li Q et al.
Chinese Medical Journal, 2014
GJB2-associated hearing loss undetected by hearing screening of newborns.
Minami SB et al.
Gene, 2013
Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients.
Matos TD et al.
International Journal of Audiology, 2013
Prevalence of DFNB1 mutations in Slovak patients with non-syndromic hearing loss.
Minárik G et al.
International Journal of Pediatric Otorhinolaryngology, 2012
The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment.
del Castillo FJ et al.
Frontiers in Bioscience (landmark Edition), 2011
GJB2 allele variants and the associated audiologic features identified in Chinese patients with less severe idiopathic hearing loss.
Zhang J et al.
Genetic Testing and Molecular Biomarkers, 2011
The genetic basis of auditory neuropathy spectrum disorder (ANSD).
Manchaiah VK et al.
International Journal of Pediatric Otorhinolaryngology, 2011
Assessing Noncoding Sequence Variants of GJB2 for Hearing Loss Association.
Matos TD et al.
Genetics Research International, 2011
Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2.
Yuan Y et al.
Journal of Translational Medicine, 2010
A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.
Wilch E et al.
Clinical Genetics, 2010
[Sequence analysis of GJB3 in Chinese deafness population who carry one heterozygous GJB2 pathogenic mutation].
Yuan YY et al.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2010
Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss.
Primignani P et al.
Genetic Testing and Molecular Biomarkers, 2009
A novel hearing-loss-related mutation occurring in the GJB2 basal promoter.
Matos TD et al.
Journal of Medical Genetics, 2007
Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome.
Flintoff K et al.
Human Genetics, 2007
Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf.
Cheng X et al.
American Journal of Medical Genetics. Part A, 2005
High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL).
Minárik G et al.
General Physiology and Biophysics, 2003
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana.
Hamelmann C et al.
Human Mutation, 2001
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
Kelley PM et al.
American Journal of Human Genetics, 1998
A comment on the analysis of families with prelinqual deafness.
Kimberling S et al.
American Journal of Human Genetics, 1989
A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss.
Feldmann D et al.
European Journal of Medical Genetics, 0