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 …
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 …
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
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 …
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 …
influence its residents' health? Environmental Psychology for Design, 3rd Edition, explores …
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss
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 …
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 …
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 …
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 …
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 …
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 …
or acquired, and is associated with a remarkably wide array of etiologies. The diverse …