Genetics, genomics and gene discovery in the auditory system
CC Morton - Human molecular genetics, 2002 - academic.oup.com
The sounds of silence have forever been broken as genetics and genomics approaches in
human and model organisms have provided a powerful and rapid entry into gene discovery …
human and model organisms have provided a powerful and rapid entry into gene discovery …
From deafness genes to hearing mechanisms: harmony and counterpoint
C Petit - Trends in molecular medicine, 2006 - cell.com
The study of hereditary hearing impairments provides a unique opportunity to deal with two
objectives simultaneously:(i) identification of the causative genes and the underlying …
objectives simultaneously:(i) identification of the causative genes and the underlying …
Autosomal dominant nonsyndromic hearing impairment
L Van Laer, WT McGuirt, T Yang… - American journal of …, 1999 - Wiley Online Library
Nearly all genes that have been localized for autosomal dominantly inherited hearing
impairment are characterized by postlingual hearing loss that is progressive in nature. This …
impairment are characterized by postlingual hearing loss that is progressive in nature. This …
Genetics of hearing loss: where are we standing now?
H Mahboubi, S Dwabe, M Fradkin, V Kimonis… - European Archives of …, 2012 - Springer
Hearing loss (HL) is the most common sensory impairment and is caused by a broad range
of inherited to environmental causes. Inherited HL consists 50–60% of all HL cases. The …
of inherited to environmental causes. Inherited HL consists 50–60% of all HL cases. The …
[PDF][PDF] Recommendations for the description of genetic and audiological data for families with nonsyndromic hereditary hearing impairment
M Mazzoli, GUY Van Camp, V Newton, N Giarbini… - Audiological …, 2003 - Citeseer
Over the last decade, we have seen a tremendous growth in the localisation and
identification of genes for nonsyndromic hearing impairment. It has become clear that this …
identification of genes for nonsyndromic hearing impairment. It has become clear that this …
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 …
At the speed of sound: gene discovery in the auditory system
BL Resendes, RE Williamson, CC Morton - The American Journal of …, 2001 - cell.com
As auditory genes and deafness-associated mutations are discovered at a rapid rate,
exciting opportunities have arisen to uncover the molecular mechanisms underlying hearing …
exciting opportunities have arisen to uncover the molecular mechanisms underlying hearing …
Gene expression profiles of the cochlea and vestibular endorgans: localization and function of genes causing deafness
Objectives: We sought to elucidate the gene expression profiles of the causative genes as
well as the localization of the encoded proteins involved in hereditary hearing loss. Methods …
well as the localization of the encoded proteins involved in hereditary hearing loss. Methods …
[HTML][HTML] Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
MM Li, A Abou Tayoun, M DiStefano, A Pandya… - Genetics in …, 2022 - 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 …
[HTML][HTML] Non-syndromic hearing loss gene identification: A brief history and glimpse into the future
B Vona, I Nanda, MAH Hofrichter… - Molecular and cellular …, 2015 - Elsevier
From the first identified non-syndromic hearing loss gene in 1995, to those discovered in
present day, the field of human genetics has witnessed an unparalleled revolution that …
present day, the field of human genetics has witnessed an unparalleled revolution that …