Associated Papers
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
GJB2 mutations: Genotypic and phenotypic correlation in a cohort of 690 hearing-impaired patients, toward a new mutation?
Leclère JC 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
Rare compound heterozygosity involving dominant and recessive mutations of GJB2 gene in an assortative mating hearing impaired Indian family.
Pavithra A 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, 2017
Understanding of the molecular evolution of deafness-associated pathogenic mutations of connexin 26.
Han XH et al.
Genetica, 2014
Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.
Bazazzadegan N et al.
American Journal of Medical Genetics. Part A, 2011
Phenotypes of two Dutch DFNA3 families with mutations in GJB2.
Weegerink NJ et al.
The Annals of Otology, Rhinology, and Laryngology, 2011
Genetic diseases of junctions.
Lai-Cheong JE et al.
The Journal of Investigative Dermatology, 2007
Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness.
Bruzzone R et al.
Febs Letters, 2003
Connexin mutations in hearing loss, dermatological and neurological disorders.
Rabionet R et al.
Trends in Molecular Medicine, 2002
Hereditary deafness and phenotyping in humans.
Bitner-Glindzicz M
British Medical Bulletin, 2002
trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation.
Rouan F et al.
Journal of Cell Science, 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
Development and maintenance of ear innervation and function: lessons from mutations in mouse and man.
Fritzsch B et al.
American Journal of Human Genetics, 1998
GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.
Kenneson A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0