Genetic etiology of non-syndromic hearing loss in Europe
I Del Castillo, M Morín, M Domínguez-Ruiz… - Human Genetics, 2022 - Springer
Hearing impairment not etiologically associated with clinical signs in other organs (non-
syndromic) is genetically heterogeneous, so that over 120 genes are currently known to be …
syndromic) is genetically heterogeneous, so that over 120 genes are currently known to be …
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 …
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands
C Zazo Seco, M Wesdorp, I Feenstra, R Pfundt… - European Journal of …, 2017 - nature.com
Hearing impairment (HI) is genetically heterogeneous which hampers genetic counseling
and molecular diagnosis. Testing of several single HI-related genes is laborious and …
and molecular diagnosis. Testing of several single HI-related genes is laborious and …
Exome sequencing in infants with congenital hearing impairment: a population-based cohort study
Congenital hearing impairment (HI) is the most common sensory impairment and can be
isolated or part of a syndrome. Diagnosis through newborn hearing screening and …
isolated or part of a syndrome. Diagnosis through newborn hearing screening and …
Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss
J Zhang, J Guan, H Wang, L Yin, D Wang, L Zhao… - BMC Medical …, 2019 - Springer
Background MYO15A variants are responsible for human non-syndromic autosomal
recessive deafness (DFNB3). The majority of MYO15A variants are associated with a …
recessive deafness (DFNB3). The majority of MYO15A variants are associated with a …
Beyond cell–cell adhesion: sensational cadherins for hearing and balance
A Jaiganesh, Y Narui… - Cold Spring …, 2018 - cshperspectives.cshlp.org
Cadherins form a large family of proteins often involved in calcium-dependent cellular
adhesion. Although classical members of the family can provide a physical bond between …
adhesion. Although classical members of the family can provide a physical bond between …
Genetic and non-genetic workup for pediatric congenital hearing loss
R Belcher, F Virgin, J Duis, C Wootten - Frontiers in Pediatrics, 2021 - frontiersin.org
Hearing loss is one of the most common concerns for presentation for a geneticist.
Presentation prior to the age of one (congenital hearing loss), profound sensorineural …
Presentation prior to the age of one (congenital hearing loss), profound sensorineural …
Is TMC1 the hair cell mechanotransducer channel?
R Fettiplace - Biophysical journal, 2016 - cell.com
Transmembrane channel-like protein isoform-1 (TMC1) has emerged over the past five
years as a prime contender for the mechano-electrical transducer (MET) channel in hair …
years as a prime contender for the mechano-electrical transducer (MET) channel in hair …
[HTML][HTML] Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population
Introduction Hearing impairment (HI) is characterized by complex genetic heterogeneity. The
evolution of next generation sequencing, including targeted enrichment panels, has …
evolution of next generation sequencing, including targeted enrichment panels, has …
MPZL2, encoding the epithelial junctional protein myelin protein zero-like 2, is essential for hearing in man and mouse
M Wesdorp, S Murillo-Cuesta, T Peters… - The American Journal of …, 2018 - cell.com
In a Dutch consanguineous family with recessively inherited nonsyndromic hearing
impairment (HI), homozygosity mapping combined with whole-exome sequencing revealed …
impairment (HI), homozygosity mapping combined with whole-exome sequencing revealed …