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Usher Syndrome, Type III
Known as:
USHER SYNDROME, TYPE IIIA
, Usher Syndrome Type 3
, USH3
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A syndrome characterized by postlingual progressive hearing loss, abnormalities in the vestibular system, and onset of retinitis pigmentosa symptoms…
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National Institutes of Health
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Related topics
Related topics
5 relations
Autosomal recessive inheritance
CLRN1 gene
Night Blindness
Retinitis 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
J. Millán
,
E. Aller
,
T. Jaijo
,
F. Blanco-Kelly
,
A. Gimenez-Pardo
,
C. Ayuso
Journal of Ophthalmology
2010
Corpus ID: 602390
Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss, retinitis pigmentosa (RP), and, in some…
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Highly Cited
2008
Highly Cited
2008
Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.
W. Herrera
,
T. Aleman
,
+11 authors
S. Jacobson
Investigative Ophthalmology and Visual Science
2008
Corpus ID: 13359327
PURPOSE To determine the retinal phenotype of Usher syndrome type III (USH3A) caused by clarin-1 (CLRN1) gene mutations in a non…
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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.
J. Reiners
,
K. Nagel-Wolfrum
,
Karin Jürgens
,
Tina Märker
,
U. Wolfrum
Experimental Eye Research
2006
Corpus ID: 10638361
Highly Cited
2005
Highly Cited
2005
Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2.
J. Reiners
,
E. van Wijk
,
+8 authors
U. Wolfrum
Human Molecular Genetics
2005
Corpus ID: 18841219
Usher syndrome (USH) is the most frequent cause of combined deaf-blindness in man. USH is clinically and genetically…
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Highly Cited
2004
Highly Cited
2004
The ophthalmological course of Usher syndrome type III
L. Pakarinen
,
K. Tuppurainen
,
P. Laippala
,
M. Mäntyjärvi
,
H. Puhakka
International ophtalmology
2004
Corpus ID: 26501078
Usher syndrome is a recessive hereditary disease group with clinical and genetical heterogeneity leading to handicapped hearing…
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Highly Cited
2003
Highly Cited
2003
Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III
S. Ness
,
T. Ben‐Yosef
,
+8 authors
A. Griffith
Journal of Medical Genetics
2003
Corpus ID: 12541089
Usher syndrome (USH) is an autosomal recessive disorder comprising of bilateral sensorineural hearing loss, progressive loss of…
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Highly Cited
2002
Highly Cited
2002
USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses
A. Adato
,
S. Vreugde
,
+15 authors
D. Lancet
European Journal of Human Genetics
2002
Corpus ID: 2964035
Usher syndrome type 3 (USH3) is an autosomal recessive disorder characterised by the association of post-lingual progressive…
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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…
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Highly Cited
2001
Highly Cited
2001
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.
T. Joensuu
,
R. Hämäläinen
,
+9 authors
E. Sankila
American Journal of Human Genetics
2001
Corpus ID: 45631458
Usher syndrome type 3 (USH3) is an autosomal recessive disorder characterized by progressive hearing loss, severe retinal…
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Highly Cited
1995
Highly Cited
1995
Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q.
E. Sankila
,
L. Pakarinen
,
+4 authors
A. de la Chapelle
Human Molecular Genetics
1995
Corpus ID: 1976790
Usher syndrome (USH) refers to genetically and clinically heterogeneous autosomal recessive disorders with combined visual and…
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