Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene.
Riza AL et al.
Genes, 2022
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
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
Connexin 26 (GJB2) Mutations Associated with Non-Syndromic Hearing Loss (NSHL).
Mishra S et al.
Indian Journal of Pediatrics, 2018
DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.
Del Castillo FJ et al.
Frontiers in Molecular Neuroscience, 2017
Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay.
Zhang F et al.
Biomed Research International, 2016
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
High incidence of GJB2 gene mutations among assortatively mating hearing impaired families in Kerala: future implications.
Pavithra A et al.
Journal of Genetics, 2014
Unique spectrum of GJB2 mutations in Mexico.
de la Luz Arenas-Sordo M et al.
International Journal of Pediatric Otorhinolaryngology, 2012
The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment.
del Castillo FJ et al.
Frontiers in Bioscience (landmark Edition), 2011
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
High frequency of connexin26 (GJB2) mutations associated with nonsyndromic hearing loss in the population of Kerala, India.
Joseph AY et al.
International Journal of Pediatric Otorhinolaryngology, 2009
A novel mechanism for connexin 26 mutation linked deafness: cell death caused by leaky gap junction hemichannels.
Stong BC et al.
The Laryngoscope, 2006
Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up.
Gardner P et al.
Pediatrics, 2006
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