Associated Papers
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort.
Buonfiglio P et al.
Genes, 2020
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
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
The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment.
del Castillo FJ et al.
Frontiers in Bioscience (landmark Edition), 2011
Clinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations.
Lipan M et al.
The Laryngoscope, 2011
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
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
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
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
GJB2 mutations and degree of hearing loss: a multicenter study.
Snoeckx RL et al.
American Journal of Human Genetics, 2005
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
A genotype-phenotype correlation for GJB2 (connexin 26) deafness.
Cryns K et al.
Journal of Medical Genetics, 2004
Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness.
Bruzzone R et al.
Febs Letters, 2003
Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins.
Rabionet R et al.
Human Mutation, 2000
Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness.
Martin PE et al.
Human Molecular Genetics, 1999
Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.
Richard G et al.
Human Genetics, 1998