Associated Papers
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
Syndromic Association of Depigmentation With Congenital Hearing Loss: A Review of Three Children With Auditory Pigmentary Disorders.
Ghosh S et al.
Ear, Nose, & Throat Journal, 2024
Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.
Ray M et al.
Journal of Pediatric Genetics, 2022
Congenital hearing loss: a literature review of the genetic etiology in a Mexican population.
Torre-González C et al.
Boletin Medico Del Hospital Infantil De Mexico, 2022
Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.
Adadey SM et al.
Life (basel, Switzerland), 2020
GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort.
Buonfiglio P et al.
Genes, 2020
GJB2-related hearing loss in central Iran: Review of the spectrum and frequency of gene mutations.
Koohiyan M et al.
Annals of Human Genetics, 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
First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss.
Özyılmaz B et al.
Turkish Archives of Otorhinolaryngology, 2019
Novel clinical features associated with Clouston syndrome.
Cammarata-Scalisi F et al.
International Journal of Dermatology, 2019
Frequency of GJB2 mutations, GJB6-D13S1830 and GJB6-D13S1854 deletions among patients with non-syndromic hearing loss from the central region of Iran.
Naddafnia H et al.
Molecular Genetics & Genomic Medicine, 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
Contribution of SLC26A4 to the molecular diagnosis of nonsyndromic prelingual sensorineural hearing loss in a Brazilian cohort.
Carvalho SDCES et al.
Bmc Research Notes, 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
Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family.
Sampaio-Silva J et al.
Annals of Human Genetics, 2018
Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic).
Barashkov NA et al.
Plos One, 2016
Spectrum and frequency of GJB2, GJB6 and SLC26A4 gene mutations among nonsyndromic hearing loss patients in eastern part of India.
Adhikary B et al.
Gene, 2015
Understanding of the molecular evolution of deafness-associated pathogenic mutations of connexin 26.
Han XH et al.
Genetica, 2014
Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants.
Du W et al.
Acta Oto-laryngologica, 2014
EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus.
Hoefsloot LH et al.
European Journal of Human Genetics : Ejhg, 2013
[Genetic testing and counselling in inherited eye disease].
Brøndum-Nielsen K et al.
Ugeskrift for Laeger, 2013
Prevalence of GJB2 (CX26) gene mutations in south Iranian patients with autosomal recessive nonsyndromic sensorineural hearing loss.
Hashemi SB et al.
Molecular Biology Reports, 2012
Unique spectrum of GJB2 mutations in Mexico.
de la Luz Arenas-Sordo M et al.
International Journal of Pediatric Otorhinolaryngology, 2012
Novel connexin 30 and connexin 26 mutational spectrum in patients with progressive sensorineural hearing loss.
Battelino S et al.
The Journal of Laryngology and Otology, 2012
Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss.
Davarnia B et al.
International Journal of Pediatric Otorhinolaryngology, 2012
Common molecular etiologies are rare in nonsyndromic Tibetan Chinese patients with hearing impairment.
Yuan Y et al.
Plos One, 2012
Clinical, audiometric, radiologic, and genetic profiles of Southeast Asian children with hearing loss due to enlarged vestibular aqueduct.
Lim L et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2011
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
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
Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.
Mahdieh N et al.
Journal of Human Genetics, 2010
Screening for GJB2 and GJB6 gene mutations in patients from Campania region with sensorineural hearing loss.
Chinetti V et al.
International Journal of Audiology, 2010
GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf.
Tekin M et al.
Annals of Human Genetics, 2010
Pediatric cholesteatoma and variants in the gene encoding connexin 26.
James AL et al.
The Laryngoscope, 2010
A novel 355-357delGAG mutation and frequency of connexin-26 (GJB2) mutations in Iranian patients.
Hamid M et al.
Journal of Genetics, 2009
Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients.
Bonyadi M et al.
Genetic Testing and Molecular Biomarkers, 2009
Connexin mutations in Brazilian patients with skin disorders with or without hearing loss.
Alexandrino F et al.
American Journal of Medical Genetics. Part A, 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
Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity.
Angeli SI
The Laryngoscope, 2008
[Prevalence of GJB2 mutations in Uigur and Han ethnic populations with deafness in Xinjiang region of China].
Li Q et al.
Zhonghua Yi Xue Za Zhi, 2007
Genetic epidemiological studies of congenital/prelingual deafness in Turkey: population structure and mating type are major determinants of mutation identification.
Tekin M et al.
American Journal of Medical Genetics. Part A, 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
The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children.
Dahl HH et al.
Journal of Medical Genetics, 2006
Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic.
Yaeger D et al.
American Journal of Medical Genetics. Part A, 2006
GJB2 gene mutations in Slovak hearing-impaired patients of Caucasian origin: spectrum, frequencies and SNP analysis.
Minarik G et al.
Clinical Genetics, 2005
First molecular screening of deafness in the Altai Republic population.
Posukh O et al.
Bmc Medical Genetics, 2005
GJB2 mutations in hearing impairment: identification of a broad clinical spectrum for improved genetic counseling.
Frei K et al.
The Laryngoscope, 2005
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
GJB2: the spectrum of deafness-causing allele variants and their phenotype.
Azaiez H et al.
Human Mutation, 2004
Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis.
Feldmann D et al.
American Journal of Medical Genetics. Part A, 2004