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

USH2A gene

Known as: USH2, US2, RP39 
 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2016
Highly Cited
2016
Deep intronic mutations leading to pseudoexon (PE) insertions are underestimated and most of these splicing alterations have been… Expand
Is this relevant?
Highly Cited
2010
Highly Cited
2010
Background Usher syndrome type II (USH2) is an autosomal recessive disorder characterised by retinitis pigmentosa (RP) and mild… Expand
Is this relevant?
Highly Cited
2010
Highly Cited
2010
Mutations in whirlin cause either Usher syndrome type II (USH2), a deafness-blindness disorder, or nonsyndromic deafness. The… Expand
  • figure 1
  • figure 2
  • figure 4
  • figure 5
  • figure 6
Is this relevant?
Highly Cited
2008
Highly Cited
2008
Usher syndrome type II (USH2) is an autosomal recessive disorder, characterised by moderate to severe high‐frequency hearing… Expand
Is this relevant?
Highly Cited
2007
Highly Cited
2007
Several lines of evidence indicate that very large G-protein-coupled receptor 1 (Vlgr1) makes up the ankle links that connect the… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2005
Highly Cited
2005
Usher syndrome type IIa (USH2A) combines moderate to severe congenital hearing impairment and retinitis pigmentosa. It is the… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2004
Highly Cited
2004
Usher syndrome type II (USH2) is a genetically heterogeneous autosomal recessive disorder with at least three genetic subtypes… Expand
Is this relevant?
Highly Cited
2003
Highly Cited
2003
Usher syndrome (USH) is an autosomal recessive disorder comprising of bilateral sensorineural hearing loss, progressive loss of… Expand
Is this relevant?
Highly Cited
1995
Highly Cited
1995
Usher syndrome (USH) refers to genetically and clinically heterogeneous autosomal recessive disorders with combined visual and… Expand
Is this relevant?
Highly Cited
1992
Highly Cited
1992
The Usher syndromes (USH) are autosomal recessive diseases characterized by congenital sensorineural hearing loss and progressive… Expand
Is this relevant?