Associated Papers
Multidimensional analysis of screening results of deafness susceptibility genes in 3066 newborns of different altitudes and nationalities in Xining, Qinghai(ISRCTN89197487).
Ren B et al.
Plos One, 2026
Genotype Characteristics and Hearing Phenotype Analysis of Newborns with Biallelic GJB2 Mutations: A 652-Case-Cohort Study.
Li J et al.
International Journal of Neonatal Screening, 2025
Analysis of deafness susceptibility gene of neonates in northern Guangdong, China.
Ma Z et al.
Scientific Reports, 2024
Epidemiology, etiology, genetic variants in non- syndromic hearing loss in Iran: A systematic review and meta-analysis.
Aliazami F et al.
International Journal of Pediatric Otorhinolaryngology, 2023
Connexin 26 (GJB2) Mutations Associated with Congenital Hearing Loss in a Country of Different Migration Routes: Turkey.
Geden H et al.
Indian Journal of Otolaryngology and Head and Neck Surgery : Official Publication of the Association of Otolaryngologists of India, 2023
Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.
Ray M et al.
Journal of Pediatric Genetics, 2022
Molecular screening of patients with profound hearing loss from Chengdu, China.
Dai Q et al.
Acta Oto-laryngologica, 2022
Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children.
Xie L et al.
Neural Plasticity, 2021
[Analysis of deafness gene variant screening of 7875 neonatal cases in Dongying area of Shandong].
Tian M et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020
Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China.
Wang Q et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary?
Chen K et al.
Journal of Clinical Laboratory Analysis, 2018
Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia.
Plevova P et al.
Medicina (kaunas, Lithuania), 2018
Prevalence of Mutations in Deafness-Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China.
Luo J et al.
Annals of Human Genetics, 2017
Association between the p.V37I variant of GJB2 and hearing loss: a pedigree and meta-analysis.
Shen N et al.
Oncotarget, 2017
Rapid and Reliable Detection of Nonsyndromic Hearing Loss Mutations by Multicolor Melting Curve Analysis.
Wang X et al.
Scientific Reports, 2017
Prevalence of mutations in GJB2, SLC26A4, and mtDNA in children with severe or profound sensorineural hearing loss in southwestern China.
Qing J et al.
Genetic Testing and Molecular Biomarkers, 2015
Prevalence and range of GJB2 and SLC26A4 mutations in patients with autosomal recessive non‑syndromic hearing loss.
Jiang H et al.
Molecular Medicine Reports, 2014
[Mutation screening in taperin gene in Chinese with prelingual nonsyndromic hearing impairment].
Wang Q et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2014
Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss.
Yao G et al.
Acta Oto-laryngologica, 2013
[PCR-GeneScan technique for detection of the GJB2 235 delC and mtDNA A1555G mutations for hereditary hearing loss].
Li Q et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2012
Autosomal recessive nonsyndromic deafness genes: a review.
Duman D et al.
Frontiers in Bioscience (landmark Edition), 2012
Spectrum of genetic changes in patients with non-syndromic hearing impairment and extremely high carrier frequency of 35delG GJB2 mutation in Belarus.
Danilenko N et al.
Plos One, 2012
Genetic mutations in non-syndromic deafness patients of Uyghur and Han Chinese ethnicities in Xinjiang, China: a comparative study.
Chen Y et al.
Journal of Translational Medicine, 2011
[Common gene mutations study in Uyghur population with deafness in Kashgar region of Xinjiang].
Chen Y et al.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2011
Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.
Mahdieh N et al.
Journal of Human Genetics, 2010
Vestibular function of patients with profound deafness related to GJB2 mutation.
Kasai M et al.
Acta Oto-laryngologica, 2010
Prevalence of Connexin 26 (GJB2) and Pendred (SLC26A4) mutations in a population of adult cochlear implant candidates.
Hochman JB et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2010
Three common GJB2 mutations causing nonsyndromic hearing loss in Chinese populations are retained in the endoplasmic reticulum.
Zhang Y et al.
Acta Oto-laryngologica, 2010
Genetics of congenital hearing impairment: a clinical approach.
Tranebaerg L
International Journal of Audiology, 2008
DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.
Tang HY et al.
American Journal of Medical Genetics. Part A, 2006
High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing-impaired and control Thai individuals.
Wattanasirichaigoon D et al.
Clinical Genetics, 2004
Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness.
Bruzzone R et al.
Febs Letters, 2003
The prevalence of connexin 26 ( GJB2) mutations in the Chinese population.
Liu XZ et al.
Human Genetics, 2002
Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A-->G mitochondrial mutation.
Abe S et al.
American Journal of Medical Genetics, 2001
Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2).
Lin D et al.
Human Mutation, 2001
Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins.
Rabionet R et al.
Human Mutation, 2000
Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population.
Kudo T et al.
American Journal of Medical Genetics, 2000
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
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
Impact of consanguineous marriages in GJB2-related hearing loss in the Iranian population: a report of a novel variant.
Mahdieh N et al.
Genetic Testing and Molecular Biomarkers, 0