Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
The Importance of Newborn Genetic Screening for Early Identification of GJB2 and SLC26A4 Related Hearing Loss.
Wener ER et al.
Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2025
The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates.
Kriukelis R et al.
European Journal of Human Genetics : Ejhg, 2025
Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains.
Posukh OL et al.
Biomolecules, 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
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Shen J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Genetics of hearing loss in the Arab population of Northern Israel.
Danial-Farran N et al.
European Journal of Human Genetics : Ejhg, 2018
The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis.
Kim HR et al.
Human Genetics, 2016
Prevalence and audiological profiles of GJB2 mutations in a large collective of hearing impaired patients.
Burke WF et al.
Hearing Research, 2016
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
Yilmaz A
Cell Biochemistry and Biophysics, 2015
Understanding of the molecular evolution of deafness-associated pathogenic mutations of connexin 26.
Han XH et al.
Genetica, 2014
Etiologic diagnosis of nonsyndromic genetic hearing loss in adult vs pediatric populations.
King PJ et al.
Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2012
Vestibular dysfunction in DFNB1 deafness.
Dodson KM et al.
American Journal of Medical Genetics. Part A, 2011
Clinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations.
Lipan M et al.
The Laryngoscope, 2011
Causes of hearing impairment in the Norwegian paediatric cochlear implant program.
Siem G et al.
International Journal of Audiology, 2010
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 O et al.
Audiology & Neuro-otology, 2010
Imaging correlation of children with DFNB1 vs non-DFNB1 hearing loss.
Kochhar A et al.
Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2009
Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity.
Angeli SI
The Laryngoscope, 2008
M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance.
Pollak A et al.
American Journal of Medical Genetics. Part A, 2007
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
Putcha GV et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2007
DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.
Tang HY et al.
American Journal of Medical Genetics. Part A, 2006
Detection of mutations in genes associated with hearing loss using a microarray-based approach.
Siemering K et al.
The Journal of Molecular Diagnostics : Jmd, 2006
Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up.
Gardner P et al.
Pediatrics, 2006
Ethnicity and mutations in GJB2 (connexin 26) and GJB6 (connexin 30) in a multi-cultural Canadian paediatric Cochlear Implant Program.
Propst EJ et al.
International Journal of Pediatric Otorhinolaryngology, 2006
GJB2 mutations and degree of hearing loss: a multicenter study.
Snoeckx RL et al.
American Journal of Human Genetics, 2005
GJB2: the spectrum of deafness-causing allele variants and their phenotype.
Azaiez H et al.
Human Mutation, 2004
Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene.
Feldmann D et al.
European Journal of Human Genetics : Ejhg, 2004
GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.
Ohtsuka A et al.
Human Genetics, 2003
Connexin-30 deletion analysis in connexin-26 heterozygotes.
Stevenson VA et al.
Genetic Testing, 2003
Pyrosequencing for detection of mutations in the connexin 26 (GJB2) and mitochondrial 12S RNA (MTRNR1) genes associated with hereditary hearing loss.
Ferraris A et al.
Human Mutation, 2002
Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.
Thönnissen E et al.
Human Genetics, 2002
Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA).
Prasad S et al.
Human Mutation, 2000
Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins.
Rabionet R et al.
Human Mutation, 2000
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.
Kenneson A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
Cellular mechanisms of mutant connexins in skin disease and hearing loss.
Common JE et al.
Cell Communication & Adhesion, 0