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 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
Etiologic Diagnosis of Genetic Hearing Loss in an Ethnically Diverse Deafness Cohort.
Yan D et al.
Audiology & Neuro-otology, 2025
Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients.
Pál M et al.
International Journal of Molecular Sciences, 2023
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
Genetic etiology of non-syndromic hearing loss in Europe.
Del Castillo I et al.
Human Genetics, 2022
GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort.
Buonfiglio P et al.
Genes, 2020
Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population.
Hernandez-Nieto C et al.
Prenatal Diagnosis, 2020
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
Systematic Review of Pathogenic GJB2 Variants in the Latino Population.
Bouzaher MH et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020
First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss.
Özyılmaz B et al.
Turkish Archives of Otorhinolaryngology, 2019
Genetics of hereditary hearing loss in east Iran population: A systematic review of GJB2 mutations.
Koohiyan M et al.
Intractable & Rare Diseases Research, 2019
Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia.
Plevova P et al.
Medicina (kaunas, Lithuania), 2018
The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.
Mikstiene V et al.
Bmc Genetics, 2016
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
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
A genotype-phenotype correlation in Sicilian patients with GJB2 biallelic mutations.
Martines F 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
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
Distribution and phenotype of GJB2 mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss.
Salvago P et al.
International Journal of Audiology, 2014
Spectrum of GJB2 mutations in Cypriot nonsyndromic hearing loss subjects.
Neocleous V et al.
Journal of Genetics, 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
Novel connexin 30 and connexin 26 mutational spectrum in patients with progressive sensorineural hearing loss.
Battelino S et al.
The Journal of Laryngology and Otology, 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 DFNB1 mutations in Slovak patients with non-syndromic hearing loss.
Minárik G 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
Mutational analysis for GJB2, GJB6, and GJB3 genes in Campania within a universal neonatal hearing screening programme.
Chinetti V et al.
International Journal of Audiology, 2011
The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment.
del Castillo FJ et al.
Frontiers in Bioscience (landmark Edition), 2011
Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.
Mahdieh N et al.
Journal of Human Genetics, 2010
Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss.
Chinetti V et al.
International Journal of Audiology, 2010
Connexin-26-associated deafness: phenotypic variability and progression of hearing loss.
Chan DK et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010
GJB2 mutations in patients with nonsyndromic hearing loss from Croatia.
Sansović I et al.
Genetic Testing and Molecular Biomarkers, 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
Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort.
Cama E et al.
International Journal of Audiology, 2009
Gap junctions and connexins in the inner ear: their roles in homeostasis and deafness.
Nickel R et al.
Current Opinion in Otolaryngology & Head and Neck Surgery, 2008
Is hearing loss due to mutations in the Connexin 26 gene progressive?
Gopalarao D et al.
International Journal of Audiology, 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
High incidence of GJB2 mutations during screening of newborns for hearing loss in Austria.
Ramsebner R et al.
Ear and Hearing, 2007
Pathogenetic role of the deafness-related M34T mutation of Cx26.
Bicego M et al.
Human Molecular Genetics, 2006
GJB2 mutations and degree of hearing loss: a multicenter study.
Snoeckx RL et al.
American Journal of Human Genetics, 2005
[Congenital hearing loss. Molecular genetic diagnosis of connexin genes and genetic counselling].
Kunstmann E et al.
Hno, 2005
GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.
Marlin S et al.
Archives of Otolaryngology--head & Neck Surgery, 2005
GJB2 mutations in hearing impairment: identification of a broad clinical spectrum for improved genetic counseling.
Frei K et al.
The Laryngoscope, 2005
GJB2: the spectrum of deafness-causing allele variants and their phenotype.
Azaiez H et al.
Human Mutation, 2004
Connexin 26 and connexin 30 mutations in children with nonsyndromic hearing loss.
Erbe CB et al.
The Laryngoscope, 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
Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: roles of parental consanguinity and assortative mating.
Tekin M et al.
Human Mutation, 2003