Congenital hearing loss

AMH Korver, RJH Smith, G Van Camp… - Nature reviews Disease …, 2017 - nature.com
Congenital hearing loss (hearing loss that is present at birth) is one of the most prevalent
chronic conditions in children. In the majority of developed countries, neonatal hearing …

Programmed cell death pathways in hearing loss: A review of apoptosis, autophagy and programmed necrosis

J Wu, J Ye, W Kong, S Zhang, Y Zheng - Cell proliferation, 2020 - Wiley Online Library
Programmed cell death (PCD)—apoptosis, autophagy and programmed necrosis—is any
pathological form of cell death mediated by intracellular processes. Ototoxic drugs, ageing …

Treatment of autosomal dominant hearing loss by in vivo delivery of genome editing agents

X Gao, Y Tao, V Lamas, M Huang, WH Yeh, B Pan… - Nature, 2018 - nature.com
Although genetic factors contribute to almost half of all cases of deafness, treatment options
for genetic deafness are limited,,,,. We developed a genome-editing approach to target a …

[BOOK][B] Environmental psychology for design

D Kopec - 2018 - books.google.com
How does a room affect an occupant's behavior and well-being? How does a building
influence its residents' health? Environmental Psychology for Design, 3rd Edition, explores …

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

CM Sloan-Heggen, AO Bierer, AE Shearer, DL Kolbe… - Human genetics, 2016 - Springer
Hearing loss is the most common sensory deficit in humans, affecting 1 in 500 newborns.
Due to its genetic heterogeneity, comprehensive diagnostic testing has not previously been …

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

AM Oza, MT DiStefano, SE Hemphill… - Human …, 2018 - Wiley Online Library
Due to the high genetic heterogeneity of hearing loss (HL), current clinical testing includes
sequencing large numbers of genes, which often yields a significant number of novel …

Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene

F Denoyelle, D Weil, MA Maw, SA Wilcox… - Human molecular …, 1997 - academic.oup.com
Prelingual non-syndromic (isolated) deafness is the most frequent hereditary sensory defect.
In> 80% of the cases, the mode of transmission is autosomal recessive. To date, 14 loci …

Mutations in the gene encoding gap junction protein β-3 associated with autosomal dominant hearing impairment

C Liu, B Tang, Q Pan, L Huang, H Dai, B Zhang… - Nature …, 1998 - nature.com
Hearing impairment is the most commonly occurring condition that affects the ability of
humans to communicate 1. More than 50% of the cases of profound early-onset deafness …

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review

A Kenneson, K Van Naarden Braun, C Boyle - Genetics in Medicine, 2002 - nature.com
Despite the enormous heterogeneity of genetic hearing loss, variants in one locus, Gap
Junction Beta 2 or GJB2 (connexin 26), account for up to 50% of cases of nonsyndromic …

[HTML][HTML] American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss

RL Alford, KS Arnos, M Fox, JW Lin, CG Palmer… - Genetics in …, 2014 - Elsevier
Hearing loss is a common and complex condition that can occur at any age, can be inherited
or acquired, and is associated with a remarkably wide array of etiologies. The diverse …