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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
2005
Highly Cited
2005
PURPOSE The human Usher syndrome (USH) is the most common form of deaf-blindness. Usher type I (USH1), the most severe form, is… 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
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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
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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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