Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Identification of known and novel genetic variants in sensorineural hearing loss: insights from whole exome sequencing in Indian families.
Jagannath K et al.
Molecular Biology Reports, 2025
Mosaicism for Genome Wide Homozygosity Identified as an Incidental Finding in Two Apparently Healthy Pregnant Women.
Haskell GT et al.
American Journal of Medical Genetics. Part A, 2025
Systematic review and meta-analysis of pathogenic GJB2 variants in the Asian population.
Ozgur Z et al.
International Journal of Pediatric Otorhinolaryngology, 2025
Analysis of clinical phenotypes and genotypes of congenital deafness caused by rare variants in GJB2.
Zhao X et al.
Frontiers in Pediatrics, 2025
Spectrum of DNA variants for patients with hearing loss in 4 language families of 15 ethnicities from Southwestern China.
Li J et al.
Heliyon, 2024
Investigation of Targeted Genes and Identification of Novel Variants with Next Generation Sequencing Method in Hearing Loss.
Zhuri D et al.
The Journal of International Advanced Otology, 2024
Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene.
Riza AL et al.
Genes, 2022
Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.
Ray M et al.
Journal of Pediatric Genetics, 2022
Single gene variants causing deafness in Asian Indians.
Panigrahi I et al.
Journal of Genetics, 2021
Spectrum of genetic variants in moderate to severe sporadic hearing loss in Pakistan.
Ramzan M et al.
Scientific Reports, 2020
Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort.
Khan A et al.
Molecular Genetics & Genomic Medicine, 2019
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
Identification of a novel homozygous mutation in transmembrane channel like 1 (TMC1) gene, one of the second-tier hearing loss genes after GJB2 in India.
Singh PK et al.
The Indian Journal of Medical Research, 2017
Rare compound heterozygosity involving dominant and recessive mutations of GJB2 gene in an assortative mating hearing impaired Indian family.
Pavithra A 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, 2017
The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations.
Yan D et al.
Genetic Testing and Molecular Biomarkers, 2015
Association between mutations in the gap junction β4 gene and nonsyndromic hearing loss: genotype-phenotype correlation patterns.
Li TC et al.
Molecular Medicine Reports, 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
High incidence of GJB2 gene mutations among assortatively mating hearing impaired families in Kerala: future implications.
Pavithra A et al.
Journal of Genetics, 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
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
Lazarin GA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013
Etiologic diagnosis of nonsyndromic genetic hearing loss in adult vs pediatric populations.
King PJ et al.
Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2012
Phenotype-genotype correlation in 295 Chinese deaf subjects with biallelic causative mutations in the GJB2 gene.
Zhao FF et al.
Genetic Testing and Molecular Biomarkers, 2011
Clinical comparison of hearing-impaired patients with DFNB1 against heterozygote carriers of connexin 26 mutations.
Lipan M et al.
The Laryngoscope, 2011
Absence of GJB6 mutations in Indian patients with non-syndromic hearing loss.
Bhalla S et al.
International Journal of Pediatric Otorhinolaryngology, 2011
Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss.
Mani RS et al.
European Journal of Human Genetics : Ejhg, 2009
Causes of deafness in British Bangladeshi children: a prevalence twice that of the UK population cannot be accounted for by consanguinity alone.
Bajaj Y et al.
Clinical Otolaryngology : Official Journal of Ent-uk ; Official Journal of Netherlands Society for Oto-rhino-laryngology & Cervico-facial Surgery, 2009
Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity.
Angeli SI
The Laryngoscope, 2008
Spectrum of GJB2 mutations causing deafness in the British Bangladeshi population.
Bajaj Y et al.
Clinical Otolaryngology : Official Journal of Ent-uk ; Official Journal of Netherlands Society for Oto-rhino-laryngology & Cervico-facial Surgery, 2008
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
Guidelines and recommendations for testing of Cx26 mutations and interpretation of results.
Mazzoli M et al.
International Journal of Pediatric Otorhinolaryngology, 2004
Screening of families with autosomal recessive non-syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario.
Maheshwari M et al.
American Journal of Medical Genetics. Part A, 2003
GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.
Ohtsuka A et al.
Human Genetics, 2003
Progress in understanding GJB2-linked deafness.
Gualandi F et al.
Community Genetics, 2003
Hereditary deafness and phenotyping in humans.
Bitner-Glindzicz M
British Medical Bulletin, 2002
Dutch patients with glycogen storage disease type II show common ancestry for the 525delT and del exon 18 mutations.
Ausems MG et al.
Journal of Medical Genetics, 2001
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana.
Hamelmann C 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
Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness.
Fuse Y et al.
Neuroreport, 1999
Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.
Scott DA et al.
Human Mutation, 1998
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
Analysis of SLC26A4 Gene in Individuals with Non Syndromic Hearing Impairment in Relation with GJB2 Associated Mutations.
Rajalakshmi K et al.
Avicenna Journal of Medical Biotechnology, 0