The fundamental and medical impacts of recent progress in research on hereditary hearing loss

V Kalatzis, C Petit - Human molecular genetics, 1998 - academic.oup.com
What would define real progress in the field of deafness research in fundamental and
medical terms? In fundamental terms, progress would be measured by an improvement in …

Hereditary hearing loss; about the known and the unknown

H Kremer - Hearing research, 2019 - Elsevier
Hereditary hearing loss is both clinically and genetically very heterogeneous. Despite the
large number of genes that have been associated with the condition, many cases remain …

Non-syndromic hereditary sensorineural hearing loss: review of the genes involved

F Stelma, MF Bhutta - The Journal of Laryngology & Otology, 2014 - cambridge.org
Background: Hereditary sensorineural hearing loss is the most frequently occurring birth
defect. It has profound effects for the individual and is a substantial burden on society …

[HTML][HTML] Clinical aspects of hereditary hearing loss

A Kochhar, MS Hildebrand, RJH Smith - Genetics in medicine, 2007 - Elsevier
Hearing loss is an etiologically diverse condition with many disease-related complications
and major clinical, social, and quality of life implications. As the rate of acquired hearing loss …

Genetics of nonsyndromic congenital hearing loss

OK Egilmez, MT Kalcioglu - Scientifica, 2016 - Wiley Online Library
Congenital hearing impairment affects nearly 1 in every 1000 live births and is the most
frequent birth defect in developed societies. Hereditary types of hearing loss account for …

Hearing loss: mechanisms revealed by genetics and cell biology

AA Dror, KB Avraham - Annual review of genetics, 2009 - annualreviews.org
Hearing loss (HL), or deafness in its most severe form, affects an estimated 28 and 22.5
million Americans and Europeans, respectively. The numbers are higher in regions such as …

[PDF][PDF] Deafness and hereditary hearing loss overview

RJH Smith, AE Shearer, MS Hildebrand… - …, 1993 - medschool.lsuhsc.edu
Disease characteristics. Hereditary hearing loss and deafness may be conductive,
sensorineural, or a combination of both; syndromic (associated with malformations of the …

Hereditary hearing loss: from human mutation to mechanism

DR Lenz, KB Avraham - Hearing research, 2011 - Elsevier
The genetic heterogeneity of hereditary hearing loss is thus far represented by hundreds of
genes encoding a large variety of proteins. Mutations in these genes have been discovered …

Nonsyndromic hearing loss

L Van Laer, K Cryns, RJH Smith, G Van Camp - Ear and hearing, 2003 - journals.lww.com
The past decade has seen extremely rapid progress in the field of hereditary hearing loss.
To date, 80 loci for nonsyndromic hearing loss have been mapped to the human genome …

[HTML][HTML] Hereditary hearing loss and deafness overview

AE Shearer, MS Hildebrand, RJH Smith - 2017 - europepmc.org
Hereditary Hearing Loss and Deafness Overview - Abstract - Europe PMC Sign in | Create an
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