Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

Usher Syndrome, Type I

Known as: USH1, Usher Syndrome Type 1, US1 
A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset… Expand
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
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
  • table 1
  • table 2
  • figure 1
Is this relevant?
Highly Cited
2006
Highly Cited
2006
Usher syndrome is an autosomal recessive condition characterized by sensorineural hearing loss, variable vestibular dysfunction… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
Highly Cited
2005
Highly Cited
2005
Defects in myosin VIIa, harmonin (a PDZ domain protein), cadherin 23, protocadherin 15 and sans (a putative scaffolding protein… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2004
Highly Cited
2004
Usher syndrome type I (USH1), the most severe form of this syndrome, is characterized by profound congenital sensorineural… Expand
  • table 1
  • table 2
Is this relevant?
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
  • figure 1
  • table 1
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2002
Highly Cited
2002
Deaf-blindness in three distinct genetic forms of Usher type I syndrome (USH1) is caused by defects in myosin VIIa, harmonin and… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2001
Highly Cited
2001
Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
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
  • table 1
  • figure 3
  • figure 4
  • figure 5
  • figure 6
Is this relevant?
Highly Cited
2000
Highly Cited
2000
Usher syndrome type 1 (USH1) is an autosomal recessive sensory defect involving congenital profound sensorineural deafness… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
1995
Highly Cited
1995
USHER syndrome represents the association of a hearing impairment with retinitis pigmentosa1 and is the most frequent cause of… Expand
Is this relevant?