Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Genotype-Phenotype Correlations, Mortality, and Clinical Insights in Keratitis-Ichthyosis-Deafness Syndrome: A Comprehensive Review and Case Report.
Patrón-Romero L et al.
American Journal of Medical Genetics. Part A, 2025
Mutation Spectrum of GJB2 in Taiwanese Patients with Sensorineural Hearing Loss: Prevalence, Pathogenicity, and Clinical Implications.
Lin YF et al.
International Journal of Molecular Sciences, 2025
The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates.
Kriukelis R et al.
European Journal of Human Genetics : Ejhg, 2025
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 2025
Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.
Muret K et al.
International Journal of Molecular Sciences, 2024
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 2024
Genotypic and Allelic Frequencies of GJB2 Variants and Features of Hearing Phenotypes in the Chinese Population of the Dongfeng-Tongji Cohort.
Yuan L et al.
Genes, 2023
Analysis of GJB2 gene mutations spectrum and the characteristics of individuals with c.109G>A in Western Guangdong.
Liang S et al.
Molecular Genetics & Genomic Medicine, 2023
The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia).
Pshennikova VG et al.
Genes, 2023
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
Keratitis-ichthyosis-deafness syndrome: A comprehensive review of cutaneous and systemic manifestations.
Alsabbagh MM
Pediatric Dermatology, 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
Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.
Ray M et al.
Journal of Pediatric Genetics, 2022
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
Preimplantation Genetic Diagnosis in Hereditary Hearing Impairment.
Chen HL et al.
Diagnostics (basel, Switzerland), 2021
GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran.
Abbaspour Rodbaneh E et al.
Journal of Clinical Laboratory Analysis, 2021
Genetic Susceptibility Study of Chinese Sudden Sensorineural Hearing Loss Patients with Vertigo.
Gao Y et al.
Current Medical Science, 2021
Whole-exome sequencing of de novo genetic variants in a Chinese family with a sporadic case of congenital nonsyndromic hearing loss.
Hu S et al.
F1000research, 2021
Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.
Zhu YM et al.
Frontiers in Cell and Developmental Biology, 2021
Genetics of Hearing Impairment in North-Eastern Romania-A Cost-Effective Improved Diagnosis and Literature Review.
Resmerita I et al.
Genes, 2020
Gjb3 Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran.
Aliazami F et al.
Iranian Journal of Public Health, 2020
High Rates of Three Common GJB2 Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect.
Zytsar MV 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
Unique Mutational Spectrum of the GJB2 Gene and its Pathogenic Contribution to Deafness in Tuvinians (Southern Siberia, Russia): A High Prevalence of Rare Variant c.516G>C (p.Trp172Cys).
Posukh OL et al.
Genes, 2019
Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency.
Rim JH et al.
Scientific Reports, 2019
Mutation analysis of common deafness genes among 1,201 patients with non-syndromic hearing loss in Shanxi Province.
Zhou Y et al.
Molecular Genetics & Genomic Medicine, 2019
Gap Junction Protein Beta 2 Gene Variants and Non-Syndromic Hearing Impairment among Couples Referred For Prenatal Diagnosis in the Northeast of Iran.
Vojdani S et al.
Iranian Journal of Otorhinolaryngology, 2019
G59S mutation in the GJB2 gene in a Chinese family with classic Vohwinkel syndrome.
Xie MX et al.
The Journal of Dermatology, 2019
Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A).
Pshennikova VG et al.
Thescientificworldjournal, 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
Diagnostic pitfalls for GJB2-related hearing loss: A novel deletion detected by Array-CGH analysis in a Japanese patient with congenital profound hearing loss.
Abe S et al.
Clinical Case Reports, 2018
Role of DFNB1 mutations in hereditary hearing loss among assortative mating hearing impaired families from South India.
Amritkumar P et al.
Bmc Medical Genetics, 2018
Spectrum of GJB2 gene variants in Indian children with non-syndromic hearing loss.
Singh PK et al.
The Indian Journal of Medical Research, 2018
Genetic mutations in non-syndromic deafness patients in Hainan Province have a different mutational spectrum compared to patients from Mainland China.
Huang B et al.
International Journal of Pediatric Otorhinolaryngology, 2018
GJB2 mutations causing autosomal recessive non-syndromic hearing loss (ARNSHL) in two Iranian populations: Report of two novel variants.
Koohiyan M et al.
International Journal of Pediatric Otorhinolaryngology, 2018
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
[Analysis of clinical phenotypes and GJB2 gene mutations in families affected with hearing loss from southern Zhejiang].
Xu C et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2017
Association between the p.V37I variant of GJB2 and hearing loss: a pedigree and meta-analysis.
Shen N et al.
Oncotarget, 2017
Long Term Speech Perception Outcomes of Cochlear Implantation in Gap Junction Protein Beta 2 Related Hearing Loss.
Kim SH et al.
Journal of Audiology & Otology, 2017
An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population.
Ghasemnejad T et al.
International Journal of Pediatric Otorhinolaryngology, 2017
DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.
Del Castillo FJ et al.
Frontiers in Molecular Neuroscience, 2017
Prevalence of GJB2 gene mutation in 330 cochlear implant patients in the Jiangsu province.
Shi L et al.
The Journal of Laryngology and Otology, 2016