Associated Papers
GJB2-Related Hearing Loss: Genotype-Phenotype Correlations, Natural History, and Emerging Therapeutic Strategies.
Morris JA et al.
International Journal of Molecular Sciences, 2026
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
Systematic review and meta-analysis of pathogenic GJB2 variants in the Asian population.
Ozgur Z et al.
International Journal of Pediatric Otorhinolaryngology, 2025
Genetic etiology of non-syndromic hearing loss in Latin America.
Lezirovitz K et al.
Human Genetics, 2022
Genetic etiology of non-syndromic hearing loss in Europe.
Del Castillo I et al.
Human Genetics, 2022
Prevalence of GJB2 gene mutations correlated to presence of clinical and environmental risk factors in the etiology of congenital sensorineural hearing loss of the Romanian population.
Neagu A et al.
Experimental and Therapeutic Medicine, 2021
Gjb3 Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran.
Aliazami F et al.
Iranian Journal of Public Health, 2020
Role of DFNB1 mutations in hereditary hearing loss among assortative mating hearing impaired families from South India.
Amritkumar P et al.
Bmc Medical Genetics, 2018
Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia.
Plevova P et al.
Medicina (kaunas, Lithuania), 2018
Spectrum and frequency of GJB2, GJB6 and SLC26A4 gene mutations among nonsyndromic hearing loss patients in eastern part of India.
Adhikary B et al.
Gene, 2015
Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily.
Amorini M et al.
Annals of Human Genetics, 2015
The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations.
Yan D et al.
Genetic Testing and Molecular Biomarkers, 2015
New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: a genotype/auditory phenotype correlation.
Stanghellini I et al.
Genetic Testing and Molecular Biomarkers, 2014
GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype.
Chan DK et al.
The Laryngoscope, 2014
EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus.
Hoefsloot LH et al.
European Journal of Human Genetics : Ejhg, 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 GJB2 (CX26) gene mutations in south Iranian patients with autosomal recessive nonsyndromic sensorineural hearing loss.
Hashemi SB et al.
Molecular Biology Reports, 2012
Autosomal recessive nonsyndromic deafness genes: a review.
Duman D et al.
Frontiers in Bioscience (landmark Edition), 2012
Prevalence of GBJ2 mutations in patients with severe to profound congenital nonsyndromic sensorineural hearing loss in Bulgarian population.
Popova DP 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, 2012
Prevalence of mutations located at the dfnb1 locus in a population of cochlear implanted children in eastern Romania.
Rădulescu L et al.
International Journal of Pediatric Otorhinolaryngology, 2012
Searching for digenic inheritance in deaf Brazilian individuals using the multiplex ligation-dependent probe amplification technique.
da Silva-Costa SM et al.
Genetic Testing and Molecular Biomarkers, 2011
Prevalence of GJB2-associated deafness and outcomes of cochlear implantation in Iran.
Daneshi A et al.
The Journal of Laryngology and Otology, 2011
DFNB1-associated deafness in Portuguese cochlear implant users: prevalence and impact on oral outcome.
Chora JR et al.
International Journal of Pediatric Otorhinolaryngology, 2010
Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.
Mahdieh N et al.
Journal of Human Genetics, 2010
Spectrum of GJB2 mutations in a cohort of nonsyndromic hearing loss cases from the Kingdom of Saudi Arabia.
Al-Qahtani MH et al.
Genetic Testing and Molecular Biomarkers, 2010
Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients.
Bonyadi M et al.
Genetic Testing and Molecular Biomarkers, 2009
GJB2 mutations in patients with nonsyndromic hearing loss from Croatia.
Sansović I et al.
Genetic Testing and Molecular Biomarkers, 2009
Low incidence of GJB2, GJB6 and mitochondrial DNA mutations in North Indian patients with non-syndromic hearing impairment.
Bhalla S et al.
Biochemical and Biophysical Research Communications, 2009
Correlation between GJB2 mutations and audiological deficits: personal experience.
Picciotti PM 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, 2009
Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.
Batissoco AC et al.
Ear and Hearing, 2009
Spectrum of GJB2 mutations causing deafness in the British Bangladeshi population.
Bajaj Y et al.
Clinical Otolaryngology : Official Journal of Ent-uk ; Official Journal of Netherlands Society for Oto-rhino-laryngology & Cervico-facial Surgery, 2008
GJB2 mutations and degree of hearing loss: a multicenter study.
Snoeckx RL et al.
American Journal of Human Genetics, 2005
GJB2 mutations in hearing impairment: identification of a broad clinical spectrum for improved genetic counseling.
Frei K et al.
The Laryngoscope, 2005
Prevalence of the 35delG mutation in the GJB2 gene of patients with nonsyndromic hearing loss from Croatia.
Sansović I et al.
Genetic Testing, 2005
High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing-impaired and control Thai individuals.
Wattanasirichaigoon D et al.
Clinical Genetics, 2004
Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis.
Feldmann D et al.
American Journal of Medical Genetics. Part A, 2004
Molecular epidemiology of DFNB1 deafness in France.
Roux AF et al.
Bmc Medical Genetics, 2004
A genotype-phenotype correlation for GJB2 (connexin 26) deafness.
Cryns K et al.
Journal of Medical Genetics, 2004
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
Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness.
Wu BL et al.
American Journal of Medical Genetics. Part A, 2003
Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss.
Uyguner O et al.
Clinical Genetics, 2003
Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India.
RamShankar M et al.
Journal of Medical Genetics, 2003
Dutch patients with glycogen storage disease type II show common ancestry for the 525delT and del exon 18 mutations.
Ausems MG et al.
Journal of Medical Genetics, 2001
Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss.
Cohn ES et al.
American Journal of Medical Genetics, 1999
Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.
Scott DA et al.
Human Mutation, 1998
Impact of consanguineous marriages in GJB2-related hearing loss in the Iranian population: a report of a novel variant.
Mahdieh N et al.
Genetic Testing and Molecular Biomarkers, 0
Mutations of the Connexin 26 gene in families with non-syndromic hearing loss.
Al-Achkar W et al.
Molecular Medicine Reports, 0