GJB2‐associated hearing loss: Systematic review of worldwide prevalence, genotype, and auditory phenotype
DK Chan, KW Chang - The Laryngoscope, 2014 - Wiley Online Library
Objectives/Hypothesis To perform a systematic review of GJB2‐associated hearing loss to
describe genotype distributions and auditory phenotype. Data Sources 230 primary studies …
describe genotype distributions and auditory phenotype. Data Sources 230 primary studies …
Ethnic-Specific Spectrum of GJB2 and SLC26A4 Mutations: Their Origin and a Literature Review
Objective: The mutation spectrum of the GJB2 and SLC26A4 genes, the 2 most common
genes causing deafness, are known to be ethnic specific. In this study, the spectrum of the …
genes causing deafness, are known to be ethnic specific. In this study, the spectrum of the …
[HTML][HTML] Non-syndromic hearing loss gene identification: A brief history and glimpse into the future
B Vona, I Nanda, MAH Hofrichter… - Molecular and cellular …, 2015 - Elsevier
From the first identified non-syndromic hearing loss gene in 1995, to those discovered in
present day, the field of human genetics has witnessed an unparalleled revolution that …
present day, the field of human genetics has witnessed an unparalleled revolution that …
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness
Deafness in humans is a common neurosensory disorder and is genetically heterogeneous.
Across diverse ethnic groups, mutations of MYO15A at the DFNB3 locus appear to be the …
Across diverse ethnic groups, mutations of MYO15A at the DFNB3 locus appear to be the …
LINE-1 global DNA methylation, iron homeostasis genes, sex and age in sudden sensorineural hearing loss (SSNHL)
Background Sudden sensorineural hearing loss (SSNHL) is an abrupt loss of hearing, still
idiopathic in most of cases. Several mechanisms have been proposed including genetic and …
idiopathic in most of cases. Several mechanisms have been proposed including genetic and …
[HTML][HTML] Genotype-phenotype correlations in TMPRSS3 (DFNB10/DFNB8) with emphasis on natural history
Background: Mutations in TMPRSS3 are an important cause of autosomal recessive non-
syndromic hearing loss. The hearing loss associated with mutations in TMPRSS3 is …
syndromic hearing loss. The hearing loss associated with mutations in TMPRSS3 is …
Update of spectrum c.35delG and c.‐23+1G>A mutations on the GJB2 gene in individuals with autosomal recessive nonsyndromic hearing loss
F Azadegan‐Dehkordi, R Ahmadi… - Annals of human …, 2019 - Wiley Online Library
Hearing loss (HL) is the most common birth defect and the most prevalent sensorineural
condition worldwide. It is associated with more than 1,000 mutations in at least 90 genes …
condition worldwide. It is associated with more than 1,000 mutations in at least 90 genes …
Mutations in the MYO15A Gene Are a Significant Cause of Nonsyndromic Hearing Loss: Massively Parallel DNA Sequencing–Based Analysis
Objectives: Screening for MYO15A mutations was carried out using a large cohort to clarify
the frequency and clinical characteristics of patients with MYO15A (DFNB3) mutations in a …
the frequency and clinical characteristics of patients with MYO15A (DFNB3) mutations in a …
Genome-wide analysis of runs of homozygosity in Pakistani controls with no history of speech or language-related developmental phenotypes
Abstract Background Runs of homozygosity (ROHs) analysis of controls provide a
convenient resource to minimize the association of false positive results of disease …
convenient resource to minimize the association of false positive results of disease …
Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss
H **a, X Huang, YI Guo, P Hu, G He, X Deng, H Xu… - PLoS …, 2015 - journals.plos.org
Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous
sensorineural disorder, generally manifested with prelingual hearing loss and absence of …
sensorineural disorder, generally manifested with prelingual hearing loss and absence of …