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 …
Non‐syndromic, autosomal‐recessive deafness
MB Petersen, PJ Willems - Clinical genetics, 2006 - Wiley Online Library
Non‐syndromic deafness is a paradigm of genetic heterogeneity with 85 loci and 39 nuclear
disease genes reported so far. Autosomal‐recessive genes are responsible for about 80 …
disease genes reported so far. Autosomal‐recessive genes are responsible for about 80 …
[HTML][HTML] GJB2 mutations and degree of hearing loss: a multicenter study
RL Snoeckx, PLM Huygen, D Feldmann… - The American Journal of …, 2005 - cell.com
Hearing impairment (HI) affects 1 in 650 newborns, which makes it the most common
congenital sensory impairment. Despite extraordinary genetic heterogeneity, mutations in …
congenital sensory impairment. Despite extraordinary genetic heterogeneity, mutations in …
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 …
DFNB1 non-syndromic hearing impairment: Diversity of mutations and associated phenotypes
FJ Del Castillo, I Del Castillo - Frontiers in molecular neuroscience, 2017 - frontiersin.org
The inner ear is a very complex sensory organ whose development and function depend on
finely balanced interactions among diverse cell types. The many different kinds of inner ear …
finely balanced interactions among diverse cell types. The many different kinds of inner ear …
The Thai reference exome (T‐REx) variant database
To maximize the potential of genomics in medicine, it is essential to establish databases of
genomic variants for ethno‐geographic groups that can be used for filtering and prioritizing …
genomic variants for ethno‐geographic groups that can be used for filtering and prioritizing …
[HTML][HTML] Newborn genetic screening for hearing impairment: a population-based longitudinal study
CC Wu, CH Tsai, CC Hung, YH Lin, YH Lin… - Genetics in …, 2017 - Elsevier
Purpose The feasibility of genetic screening for deafness-causing mutations in newborns
has been reported in several studies. The aim of this study was to investigate the long-term …
has been reported in several studies. The aim of this study was to investigate the long-term …
Genetic investigations in childhood deafness
M Parker, M Bitner-Glindzicz - Archives of disease in childhood, 2015 - adc.bmj.com
Permanent childhood sensorineural hearing loss, is one of the most common birth defects in
developed countries. It is important to identify the aetiology of hearing loss for many reasons …
developed countries. It is important to identify the aetiology of hearing loss for many reasons …
Connexin genes variants associated with non-syndromic hearing impairment: a systematic review of the global burden
Mutations in connexins are the most common causes of hearing impairment (HI) in many
populations. Our aim was to review the global burden of pathogenic and likely pathogenic …
populations. Our aim was to review the global burden of pathogenic and likely pathogenic …
A functional enrichment test for molecular convergent evolution finds a clear protein-coding signal in echolocating bats and whales
Distantly related species entering similar biological niches often adapt by evolving similar
morphological and physiological characters. How much genomic molecular convergence …
morphological and physiological characters. How much genomic molecular convergence …