Associated Papers
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
Genetic etiology of non-syndromic hearing loss in Latin America.
Lezirovitz K et al.
Human Genetics, 2022
Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.
Ray M et al.
Journal of Pediatric Genetics, 2022
Gap Junction Channelopathies and Calmodulinopathies. Do Disease-Causing Calmodulin Mutants Affect Direct Cell-Cell Communication?
Peracchia C
International Journal of Molecular Sciences, 2021
GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort.
Buonfiglio P et al.
Genes, 2020
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
Unique spectrum of GJB2 mutations in Mexico.
de la Luz Arenas-Sordo M et al.
International Journal of Pediatric Otorhinolaryngology, 2012
Pathological hemichannels associated with human Cx26 mutations causing Keratitis-Ichthyosis-Deafness syndrome.
Levit NA et al.
Biochimica Et Biophysica Acta, 2012
Mutations in connexin genes and disease.
Pfenniger A et al.
European Journal of Clinical Investigation, 2011
Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss.
Kenna MA et al.
Archives of Otolaryngology--head & Neck Surgery, 2010
Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.
Hoang Dinh E et al.
Brain Research, 2009
Functional studies reveal new mechanisms for deafness caused by connexin mutations.
Chang Q et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2009
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 and GJB6 mutations in children with congenital cytomegalovirus infection.
Ross SA et al.
Pediatric Research, 2007
GJB2 mutations and degree of hearing loss: a multicenter study.
Snoeckx RL et al.
American Journal of Human Genetics, 2005
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
Functional analysis of connexin-26 mutants associated with hereditary recessive deafness.
Wang HL et al.
Journal of Neurochemistry, 2003
Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness.
Bruzzone R et al.
Febs Letters, 2003
Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria.
Janecke AR et al.
Human Genetics, 2002
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
Löffler J et al.
European Journal of Human Genetics : Ejhg, 2001
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
Kelley PM et al.
American Journal of Human Genetics, 1998
A comment on the analysis of families with prelinqual deafness.
Kimberling S et al.
American Journal of Human Genetics, 1989