USHER SYNDROME, TYPE IIA

Known as: USH2A, Usher syndrome, type 2A 
 
National Institutes of Health

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Topic mentions per year

1995-2017
05101519952017

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Highly Cited
2015
Highly Cited
2015
There is incomplete understanding of genetic heterogeneity and clonal evolution during cancer progression. Here we use deep whole… (More)
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Highly Cited
2014
Highly Cited
2014
Hereditary retinal dystrophies (RD) constitute a group of blinding diseases that are characterized by clinical variability and… (More)
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2013
2013
OBJECTIVE The purpose of this study was to compare the genotype/phenotype relationship between siblings with identical USH2A… (More)
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Highly Cited
2010
Highly Cited
2010
Usher syndrome is a genetically heterogeneous recessive disease characterized by hearing loss and retinitis pigmentosa (RP). It… (More)
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Highly Cited
2008
Highly Cited
2008
Usher syndrome type II (USH2) is an autosomal recessive disorder, characterised by moderate to severe high-frequency hearing… (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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Highly Cited
2005
Highly Cited
2005
Usher syndrome type IIa (USH2A) combines moderate to severe congenital hearing impairment and retinitis pigmentosa. It is the… (More)
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2004
2004
A screen of the entire coding region of the USH2A gene in 129 unrelated patients with Usher syndrome type II (USH2) and in 146… (More)
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Highly Cited
2000
Highly Cited
2000
Usher syndrome type IIa (USHIIa) is an autosomal recessive disorder characterized by moderate to severe sensorineural hearing… (More)
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Highly Cited
2000
Highly Cited
2000
Microdeletions Glu767(1-bp del), Thr967(1-bp del), and Leu1446(2-bp del) in the human USH2A gene have been reported to cause… (More)
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