Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Molecular dynamics simulation of GJC2 mutants reveal pathogenic mechanisms of PMLD1 and SPG44.
Gong D et al.
The Journal of General Physiology, 2025
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
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
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
Genetics of Hearing Loss in North Iran Population: An Update of Spectrum and Frequency of GJB2 Mutations.
Koohiyan M et al.
Journal of Audiology & Otology, 2019
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
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
GJB2 mutations causing autosomal recessive non-syndromic hearing loss (ARNSHL) in two Iranian populations: Report of two novel variants.
Koohiyan M et al.
International Journal of Pediatric Otorhinolaryngology, 2018
An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population.
Ghasemnejad T et al.
International Journal of Pediatric Otorhinolaryngology, 2017
A novel dominant GJB2 (DFNA3) mutation in a Chinese family.
Wang H et al.
Scientific Reports, 2017
A Mayan founder mutation is a common cause of deafness in Guatemala.
Carranza C et al.
Clinical Genetics, 2016
Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.
Nishio SY et al.
The Annals of Otology, Rhinology, and Laryngology, 2015
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
Yilmaz A
Cell Biochemistry and Biophysics, 2015
Clinical application of a custom AmpliSeq library and ion torrent PGM sequencing to comprehensive mutation screening for deafness genes.
Nishio SY et al.
Genetic Testing and Molecular Biomarkers, 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
Understanding of the molecular evolution of deafness-associated pathogenic mutations of connexin 26.
Han XH et al.
Genetica, 2014
Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran.
Bonyadi MJ et al.
International Journal of Pediatric Otorhinolaryngology, 2014
Identification of a p.R143Q dominant mutation in the gap junction beta-2 gene in three Chinese patients with different hearing phenotypes.
Huang S et al.
Acta Oto-laryngologica, 2013
Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss.
Davarnia B et al.
International Journal of Pediatric Otorhinolaryngology, 2012
De novo dominant mutation of GJB2 in two Chinese families with nonsyndromic hearing loss.
Huang S et al.
International Journal of Pediatric Otorhinolaryngology, 2011
Clinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations.
Lipan M et al.
The Laryngoscope, 2011
Phenotypes of two Dutch DFNA3 families with mutations in GJB2.
Weegerink NJ et al.
The Annals of Otology, Rhinology, and Laryngology, 2011
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
Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population.
Han SH et al.
Journal of Human Genetics, 2008
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
Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment.
Samanich J et al.
American Journal of Medical Genetics. Part A, 2007
GJB2: the spectrum of deafness-causing allele variants and their phenotype.
Azaiez H et al.
Human Mutation, 2004
GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss.
Najmabadi H et al.
Human Mutation, 2002
Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2).
Lin D et al.
Human Mutation, 2001
Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.
Wu BL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0