DEAFNESS, AUTOSOMAL RECESSIVE 31

Known as: DFNB31, Whirler, Mouse, Homolog Of 
 
National Institutes of Health

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Topic mentions per year

2002-2017
02420022017

Papers overview

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2015
2015
Comprehensive genetic testing has the potential to become the standard of care for individuals with hearing loss. In this study… (More)
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2013
2013
We performed whole genome sequencing in 16 unrelated patients with autosomal recessive retinitis pigmentosa (ARRP), a disease… (More)
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2012
2012
Whirlin mutations cause retinal degeneration and hearing loss in Usher syndrome type II (USH2) and non-syndromic deafness, DFNB31… (More)
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2012
2012
We have systematically analyzed the two known minor genes involved in Usher syndrome type 2, DFNB31 and GPR98, for mutations in a… (More)
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2012
2012
Bilateral sensorineural hearing loss (HL), classically described as mild to severe with a typically down-sloping audiometric… (More)
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2010
2010
Aberrant gene expression in the uterine endometrium and embryo has been the major causes of pregnancy failure in cattle. However… (More)
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Highly Cited
2006
Highly Cited
2006
Usher syndrome is an autosomal recessive condition characterized by sensorineural hearing loss, variable vestibular dysfunction… (More)
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2005
2005
Approximately 80% of hereditary hearing loss is non-syndromic. Non-syndromic deafness is the most genetically heterogeneous trait… (More)
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Highly Cited
2003
Highly Cited
2003
The whirler mouse mutant (wi) does not respond to sound stimuli, and detailed ultrastructural analysis of sensory hair cells in… (More)
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2003
2003
Mutations in whirlin, a putative PDZ scaffold protein, have recently been shown to cause deafness and short cochlear hair cell… (More)
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