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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… Expand
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
2011
Highly Cited
2011
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… Expand
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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.
Usher syndrome (USH) is the most frequent cause of combined deaf-blindness in man. It is clinically and genetically heterogeneous… Expand
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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… Expand
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2004
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… Expand
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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… Expand
Review
2003
Review
2003
The molecular genetics of Usher syndrome
Association of sensorineural deafness and progressive retinitis pigmentosa with and without a vestibular abnormality is the… Expand
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… Expand
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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… Expand
Review
1999
Review
1999
The usher syndromes.
Mutations in the gene (MYO7A) encoding myosin-VIIa, a member of the large superfamily of myosin motor proteins that move on… Expand
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… Expand
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