Associated Papers
Analysis of combined screening results of the hearing and deafness genes in 10,754 newborns.
Lian J et al.
Open Medicine (warsaw, Poland), 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
Connexin 30 (GJB6) deletion as a cause of a false positive sweat test result.
Rossell A et al.
European Journal of Pediatrics, 2025
Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct.
Bernardinelli E et al.
Molecular Medicine (cambridge, Mass.), 2025
Saliva Sample-Based Non-Invasive Carrier Screening for Spinal Muscular Atrophy, Hereditary Hearing Loss, and Thalassemia in 13,926 Women of Reproductive Age From South Zhejiang.
Xu C et al.
Molecular Genetics & Genomic Medicine, 2025
Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants.
Ma P et al.
Molecular Genetics & Genomic Medicine, 2024
Characteristics of hearing loss-associated gene mutations: A multi-center study of 119,606 neonates in Gannan.
Zhao M et al.
International Journal of Pediatric Otorhinolaryngology, 2023
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
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
The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes-A Comprehensive Study of the GJB2/DFNB1 Region.
Safka Brozkova D et al.
Genes, 2021
Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.
Yu X et al.
Orphanet Journal of Rare Diseases, 2020
The Analysis of GJB2, GJB3, and GJB6 Gene Mutations in Patients with Hereditary Non-Syndromic Hearing Loss Living in Sivas.
Küçük Kurtulgan H et al.
The Journal of International Advanced Otology, 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
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
Molecular study of patients with auditory neuropathy.
Carvalho GM et al.
Molecular Medicine Reports, 2016
Autosomal recessive nonsyndromic deafness genes: a review.
Duman D et al.
Frontiers in Bioscience (landmark Edition), 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
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
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 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment.
Dai P et al.
Journal of Translational Medicine, 2009
Construction of a multiplex allele-specific PCR-based universal array (ASPUA) and its application to hearing loss screening.
Li CX et al.
Human Mutation, 2008
Relevance of the A1555G Mutation in the 12S rRNA Gene for Hearing Impairment in Austria.
Ramsebner R et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2007
Relevance of the A1555G mutation in the 12S rRNA gene for hearing impairment in Austria.
Ramsebner R et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2007
High incidence of GJB2 mutations during screening of newborns for hearing loss in Austria.
Ramsebner R et al.
Ear and Hearing, 2007
Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment.
Samanich J et al.
American Journal of Medical Genetics. Part A, 2007
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
Screening for mutations in the GJB3 gene in Brazilian patients with nonsyndromic deafness.
Alexandrino F et al.
Journal of Applied Genetics, 2004
The prevalence of connexin 26 ( GJB2) mutations in the Chinese population.
Liu XZ et al.
Human Genetics, 2002
Exploring the clinical and epidemiological complexity of GJB2-linked deafness.
Gualandi F et al.
American Journal of Medical Genetics, 2002
Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2).
Lin D et al.
Human Mutation, 2001
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
Prevalence of 35delG/GJB2 and del (GJB6-D13S1830) mutations in patients with non-syndromic deafness from a population of Espírito Santo-Brazil.
Cordeiro-Silva Mde F et al.
Brazilian Journal of Otorhinolaryngology, 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
Genetic frequencies related to severe or profound sensorineural hearing loss in Inner Mongolia Autonomous Region.
Liu Y et al.
Genetics and Molecular Biology, 0