Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Characterizing the spectrum and clinical impact of GJB2 mutations in patients with hearing loss: Insights into genetic variability and phenotypic outcomes.
Akhbari E et al.
International Journal of Pediatric Otorhinolaryngology, 2025
The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar.
Alkhidir S et al.
Scientific Reports, 2024
Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia-Alania.
Petrova N et al.
Peerj, 2023
Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases.
Sotnikova EA et al.
Journal of Personalized Medicine, 2022
GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran.
Abbaspour Rodbaneh E et al.
Journal of Clinical Laboratory Analysis, 2021
Role of GJB2 and GJB6 in Iranian Nonsyndromic Hearing Impairment: From Molecular Analysis to Literature Reviews.
Falah M et al.
Fetal and Pediatric Pathology, 2020
Cochlear Implantation Outcome in Children with DFNB1 locus Pathogenic Variants.
Oziębło D et al.
Journal of Clinical Medicine, 2020
Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.
Baux D et al.
Scientific Reports, 2017
Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions.
Bliznetz EA et al.
Journal of Human Genetics, 2017
An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population.
Ghasemnejad T et al.
International Journal of Pediatric Otorhinolaryngology, 2017
Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss.
Beck C 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
GJB2 c.-23+1G>A mutation is second most common mutation among Iranian individuals with autosomal recessive hearing loss.
Zeinali S 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
Ethnic-specific spectrum of GJB2 and SLC26A4 mutations: their origin and a literature review.
Tsukada K et al.
The Annals of Otology, Rhinology, and Laryngology, 2015
NADf chip, a two-color microarray for simultaneous screening of multigene mutations associated with hearing impairment in North African Mediterranean countries.
Chakchouk I et al.
The Journal of Molecular Diagnostics : Jmd, 2015
Finding mutation within non-coding region of GJB2 reveals its importance in genetic testing of hearing loss in Iranian population.
Kashef A et al.
International Journal of Pediatric Otorhinolaryngology, 2015
A novel splice-site mutation in the GJB2 gene causing mild postlingual hearing impairment.
Gandía M et al.
Plos One, 2013
GJB2 (Connexin 26) gene mutations among hearing-impaired persons in a Swedish cohort.
Carlsson PI et al.
Acta Oto-laryngologica, 2012
[Changes in the connexin 26 (GJB2) gene in Russian patients with hearing disorders: results of long-term molecular diagnostics of hereditary nonsyndromic deafness].
Bliznets EA et al.
Genetika, 2012
Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.
Mahdieh N et al.
Journal of Human Genetics, 2010
Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients.
Bonyadi M et al.
Genetic Testing and Molecular Biomarkers, 2009
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
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
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
GJB2 mutations and degree of hearing loss: a multicenter study.
Snoeckx RL et al.
American Journal of Human Genetics, 2005
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
Analysis of GJB2 mutation: evidence for a Mediterranean ancestor for the 35delG mutation.
Belguith H et al.
Clinical Genetics, 2005
Guidelines and recommendations for testing of Cx26 mutations and interpretation of results.
Mazzoli M et al.
International Journal of Pediatric Otorhinolaryngology, 2004
Molecular epidemiology of DFNB1 deafness in France.
Roux AF et al.
Bmc Medical Genetics, 2004
GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.
Ohtsuka A et al.
Human Genetics, 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
Prevalence of GJB2 mutations in prelingual deafness in the Greek population.
Pampanos A et al.
International Journal of Pediatric Otorhinolaryngology, 2002
Frequencies of GJB2 mutations in German control individuals and patients showing sporadic non-syndromic hearing impairment.
Kupka S et al.
Human Mutation, 2002
Connexin 26 preverbal hearing impairment: mutation prevalence and heterozygosity in a selected population.
Orzan E et al.
International Journal of Audiology, 2002
Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene.
Mustapha M et al.
Journal of Medical Genetics, 2001
Evaluation of dHPLC for CX26 mutation screening in patients from southern France with sensorineural deafness.
Pallares-Ruiz N et al.
Genetic Testing, 2001