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USHER SYNDROME, TYPE IG

Known as: USH1G 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Hair cell stereocilia tip-links function to sense mechanical forces generated by sound waves and maintain the structure of… 
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2018
2018
BackgroundDigenic inheritance is the simplest model of oligenic disease. It can be observed when there is a strong epistatic… 
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2015
2015
Objective: Currently, six genes are known to be associated with Usher syndrome type I, and mutations in most of these genes can… 
Highly Cited
2014
Highly Cited
2014
BackgroundUsher syndrome is an autosomal recessive disease that associates sensorineural hearing loss, retinitis pigmentosa and… 
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2012
2012
Inherited hearing loss in mice has contributed substantially to our understanding of inner-ear function. We identified a new… 
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Highly Cited
2011
Highly Cited
2011
Background Usher syndrome (USH) is an autosomal recessive disorder comprising retinitis pigmentosa, hearing loss and, in some… 
2011
2011
Purpose This study investigated the genetic basis for Usher syndrome type 1 (USH1) in four consanguineous Israeli Arab families… 
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2010
2010
We have shown that nasal ciliated epithelium, which can be easily biopsied under local anesthetic, provides a good source of RNA… 
Review
2006
Review
2006
Background: Usher syndrome, a devastating recessive disorder which combines hearing loss with retinitis pigmentosa, is clinically… 
Highly Cited
2003
Highly Cited
2003
Usher syndrome type I (USH1) is the most frequent cause of hereditary deaf-blindness in humans. Seven genetic loci (USH1A-G) have… 
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