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
Cytomembrane Trafficking Pathways of Connexin 26, 30, and 43.
Zong YJ et al.
International Journal of Molecular Sciences, 2023
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
Simulation-predicted and -explained inheritance model of pathogenicity confirmed by transgenic mice models.
Tsai CY et al.
Computational and Structural Biotechnology Journal, 2023
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
Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.
Van Heurck R et al.
Genes, 2021
Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population.
Morgan A et al.
Genes, 2020
Identification of Main Genetic Causes Responsible for Non-Syndromic Hearing Loss in a Peruvian Population.
Figueroa-Ildefonso E et al.
Genes, 2019
Wan Du et al. - Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants. Acta Oto-Laryngol 2014; 134: 373-381.
Hellström S
Acta Oto-laryngologica, 2018
Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy.
Sicca F et al.
Scientific Reports, 2016
Detection of Connexion 26 GENE (GJB2) Mutations in Cases of Congenital Non Syndromic Deafness.
Banjara H et al.
Indian Journal of Otolaryngology and Head and Neck Surgery : Official Publication of the Association of Otolaryngologists of India, 2016
Structural analysis of key gap junction domains--Lessons from genome data and disease-linked mutants.
Bai D
Seminars in Cell & Developmental Biology, 2016
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
Yilmaz A
Cell Biochemistry and Biophysics, 2015
New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: a genotype/auditory phenotype correlation.
Stanghellini I et al.
Genetic Testing and Molecular Biomarkers, 2014
Understanding of the molecular evolution of deafness-associated pathogenic mutations of connexin 26.
Han XH et al.
Genetica, 2014
Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants.
Du W et al.
Acta Oto-laryngologica, 2014
[Genetic testing and counselling in inherited eye disease].
Brøndum-Nielsen K et al.
Ugeskrift for Laeger, 2013
Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.
Hoang Dinh E et al.
Brain Research, 2009
[GJB2 (connexin 26) gene mutation screen in patients with nonsydromic hearing loss in Hunan].
Wang S et al.
Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 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
Ethnicity and mutations in GJB2 (connexin 26) and GJB6 (connexin 30) in a multi-cultural Canadian paediatric Cochlear Implant Program.
Propst EJ et al.
International Journal of Pediatric Otorhinolaryngology, 2006
GJB2 mutations and degree of hearing loss: a multicenter study.
Snoeckx RL et al.
American Journal of Human Genetics, 2005
GJB2 and GJB6 mutations in 165 Danish patients showing non-syndromic hearing impairment.
Grønskov K et al.
Genetic Testing, 2004
Exploring the clinical and epidemiological complexity of GJB2-linked deafness.
Gualandi F et al.
American Journal of Medical Genetics, 2002
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
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
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