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USHER SYNDROME, TYPE ID

Known as: USH1D 
National Institutes of Health

Papers overview

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Highly Cited
2011
Highly Cited
2011
Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss, retinitis pigmentosa (RP), and, in some… Expand
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Highly Cited
2011
Highly Cited
2011
The mechanotransducer channels of auditory hair cells are gated by tip-links, oblique filaments that interconnect the stereocilia… Expand
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Highly Cited
2009
Highly Cited
2009
Deafness is the most common form of sensory impairment in humans and is frequently caused by single gene mutations. Interestingly… Expand
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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… Expand
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Highly Cited
2001
Highly Cited
2001
Genes causing nonsyndromic autosomal recessive deafness (DFNB12) and deafness associated with retinitis pigmentosa and vestibular… Expand
Highly Cited
2001
Highly Cited
2001
Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss… Expand
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Review
2001
Review
2001
  • C. Petit
  • Annual review of genomics and human genetics
  • 2001
  • Corpus ID: 505750
Usher syndrome (USH) is defined by the association of sensorineural deafness and visual impairment due to retinitis pigmentosa… Expand
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Highly Cited
2001
Highly Cited
2001
Mutations at the waltzer (v) locus result in deafness and vestibular dysfunction due to degeneration of the neuroepithelium… Expand
Highly Cited
2000
Highly Cited
2000
Usher syndrome type I is an autosomal recessive disorder marked by hearing loss, vestibular areflexia, and retinitis pigmentosa… Expand
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Highly Cited
1996
Highly Cited
1996
The Usher syndromes (USH) are a group of autosomal recessive diseases characterized by progressive pigmentary retinopathy and… Expand
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