Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 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
Exome Profiling Suggests Combined Effect of Myeloperoxidase, Toll-Like Receptors, and Metallopeptidase in Hidradenitis Suppurativa.
Azzarà A et al.
Biomedicines, 2024
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
Whole-Exome Sequencing and cfDNA Analysis Uncover Genetic Determinants of Melanoma Therapy Response in a Real-World Setting.
Vanni I et al.
International Journal of Molecular Sciences, 2023
Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene.
Riza AL et al.
Genes, 2022
Audiological Evidence of Frequent Hereditary Mild, Moderate and Moderate-to-Severe Hearing Loss.
Markova T et al.
Journal of Personalized Medicine, 2022
Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries.
Al Mutery A et al.
Human Genetics, 2022
GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort.
Buonfiglio P et al.
Genes, 2020
Role of GJB2 and GJB6 in Iranian Nonsyndromic Hearing Impairment: From Molecular Analysis to Literature Reviews.
Falah M et al.
Fetal and Pediatric Pathology, 2020
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
Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese Family.
Huang S et al.
Biomed Research International, 2020
Genetics of Hearing Loss in North Iran Population: An Update of Spectrum and Frequency of GJB2 Mutations.
Koohiyan M et al.
Journal of Audiology & Otology, 2019
First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss.
Özyılmaz B et al.
Turkish Archives of Otorhinolaryngology, 2019
Calcium interactions with Cx26 hemmichannel: Spatial association between MD simulations biding sites and variant pathogenicity.
Albano JMR et al.
Computational Biology and Chemistry, 2018
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
The genetic basis of deafness in populations of African descent.
Rudman JR et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2017
Genetic and clinical analysis of nonsyndromic hearing impairment in pediatric and adult cases.
Xing J et al.
Balkan Journal of Medical Genetics : Bjmg, 2016
GJB2 c.-23+1G>A mutation is second most common mutation among Iranian individuals with autosomal recessive hearing loss.
Zeinali S 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, 2015
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
Yilmaz A
Cell Biochemistry and Biophysics, 2015
GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss.
Zheng J et al.
Plos One, 2015
Sequencing of GJB2 in Cameroonians and Black South Africans and comparison to 1000 Genomes Project Data Support Need to Revise Strategy for Discovery of Nonsyndromic Deafness Genes in Africans.
Bosch J et al.
Omics : a Journal of Integrative Biology, 2014
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
Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran.
Bonyadi MJ et al.
International Journal of Pediatric Otorhinolaryngology, 2014
Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han.
Li Q et al.
Chinese Medical Journal, 2014
[Analysis of genotype-phenotype correlation for GJB2 in 221 non-syndromic deafness probands and their pedigrees].
Yu X et al.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2013
Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients.
Matos TD et al.
International Journal of Audiology, 2013
GJB2 and GJB6 genes and the A1555G mitochondrial mutation are only minor causes of nonsyndromic hearing loss in the Qatari population.
Khalifa Alkowari M et al.
International Journal of Audiology, 2012
[Changes in the connexin 26 (GJB2) gene in Russian patients with hearing disorders: results of long-term molecular diagnostics of hereditary nonsyndromic deafness].
Bliznets EA et al.
Genetika, 2012
The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment.
del Castillo FJ et al.
Frontiers in Bioscience (landmark Edition), 2011
GJB2 allele variants and the associated audiologic features identified in Chinese patients with less severe idiopathic hearing loss.
Zhang J et al.
Genetic Testing and Molecular Biomarkers, 2011
Molecular epidemiological analysis of mitochondrial DNA12SrRNA A1555G, GJB2, and SLC26A4 mutations in sporadic outpatients with nonsyndromic sensorineural hearing loss in China.
Ji YB et al.
Acta Oto-laryngologica, 2011
Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.
Mahdieh N et al.
Journal of Human Genetics, 2010
Two novel missense mutations in the connexin 26 gene in Turkish patients with nonsyndromic hearing loss.
Yilmaz A et al.
Biochemical Genetics, 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
Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss.
Primignani P et al.
Genetic Testing and Molecular Biomarkers, 2009
Audiologic and temporal bone imaging findings in patients with sensorineural hearing loss and GJB2 mutations.
Lee KH et al.
The Laryngoscope, 2009
Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.
Batissoco AC et al.
Ear and Hearing, 2009
GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects.
Guo YF et al.
Acta Oto-laryngologica, 2008
Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population.
Han SH et al.
Journal of Human Genetics, 2008
A novel hearing-loss-related mutation occurring in the GJB2 basal promoter.
Matos TD et al.
Journal of Medical Genetics, 2007
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
Putcha GV et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2007
GJB2 and GJB6 mutations in children with congenital cytomegalovirus infection.
Ross SA et al.
Pediatric Research, 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
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
Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf.
Cheng X et al.
American Journal of Medical Genetics. Part A, 2005
GJB2 (connexin 26) mutations are not a major cause of hearing loss in the Indonesian population.
Snoeckx RL et al.
American Journal of Medical Genetics. Part A, 2005
Auditory perception and speech discrimination after cochlear implantation in patients with connexin 26 (GJB2) gene-related deafness.
Sinnathuray AR et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2004