Skip to search formSkip to main contentSkip to account menu

Usher Syndrome, Type III

Known as: USHER SYNDROME, TYPE IIIA, Usher Syndrome Type 3, USH3 
A syndrome characterized by postlingual progressive hearing loss, abnormalities in the vestibular system, and onset of retinitis pigmentosa symptoms… 
National Institutes of Health

Related topics

Related topics

5 relations
Autosomal recessive inheritanceCLRN1 geneNight BlindnessRetinitis Pigmentosa

Broader (1)

Usher Syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2010
Highly Cited
2010
An Update on the Genetics of Usher Syndrome
Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss, retinitis pigmentosa (RP), and, in some… 
Highly Cited
2008
Highly Cited
2008
Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.
PURPOSE To determine the retinal phenotype of Usher syndrome type III (USH3A) caused by clarin-1 (CLRN1) gene mutations in a non… 
Review
2006
Review
2006
Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease.
Highly Cited
2005
Highly Cited
2005
Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2.
Usher syndrome (USH) is the most frequent cause of combined deaf-blindness in man. USH is clinically and genetically… 
Highly Cited
2004
Highly Cited
2004
The ophthalmological course of Usher syndrome type III
Usher syndrome is a recessive hereditary disease group with clinical and genetical heterogeneity leading to handicapped hearing… 
Highly Cited
2003
Highly Cited
2003
Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III
Usher syndrome (USH) is an autosomal recessive disorder comprising of bilateral sensorineural hearing loss, progressive loss of… 
Highly Cited
2002
Highly Cited
2002
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses
Usher syndrome type 3 (USH3) is an autosomal recessive disorder characterised by the association of post-lingual progressive… 
Review
2001
Review
2001
Usher syndrome: from genetics to pathogenesis.
  • 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… 
Highly Cited
2001
Highly Cited
2001
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.
Usher syndrome type 3 (USH3) is an autosomal recessive disorder characterized by progressive hearing loss, severe retinal… 
Highly Cited
1995
Highly Cited
1995
Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q.
Usher syndrome (USH) refers to genetically and clinically heterogeneous autosomal recessive disorders with combined visual and… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)