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Usher Syndrome, Type I
Known as:
USH1
, Usher Syndrome Type 1
, US1
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A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset…
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National Institutes of Health
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Related topics
Related topics
7 relations
Autosomal recessive inheritance
Genetic Heterogeneity
Profound sensorineural hearing loss
Retinitis Pigmentosa
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Narrower (1)
Usher syndrome, type 1E
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2006
Highly Cited
2006
MYO7A mutation screening in Usher syndrome type I patients from diverse origins
T. Jaijo
,
E. Aller
,
+10 authors
J. M. Millán
Journal of Medical Genetics
2006
Corpus ID: 3026905
Usher syndrome (USH) (OMIM 276901) is an autosomal recessive disorder characterised by hearing impairment associated with…
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Highly Cited
2002
Highly Cited
2002
The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions
J. Siemens
,
Piotr Kaźmierczak
,
A. Reynolds
,
Melanie Sticker
,
A. Littlewood-Evans
,
U. Müller
Proceedings of the National Academy of Sciences…
2002
Corpus ID: 22152464
Usher syndrome type 1 (USH1) patients suffer from sensorineuronal deafness, vestibular dysfunction, and visual impairment…
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Highly Cited
2002
Highly Cited
2002
A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24–25
M. Mustapha
,
E. Chouery
,
+8 authors
D. Weil
Human Genetics
2002
Corpus ID: 26187816
Abstract. Usher syndrome (USH) is an autosomal recessive disorder associated with sensorineural hearing impairment and…
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Highly Cited
2002
Highly Cited
2002
Prevalence and geographical distribution of Usher syndrome in Germany
U. Spandau
,
K. Rohrschneider
Graefe's Archive for Clinical and Experimental…
2002
Corpus ID: 21363636
AbstractPurpose.To estimate the prevalence of Usher syndrome in Heidelberg and Mannheim and to map its geographical distribution…
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Highly Cited
1997
Highly Cited
1997
A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21.
H. Chaib
,
J. Kaplan
,
+6 authors
C. Petit
Human Molecular Genetics
1997
Corpus ID: 11643876
Usher syndrome (USH) is a clinically and genetically heterogeneous disorder characterized by congenital hearing loss combined…
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Highly Cited
1996
Highly Cited
1996
Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10.
S. Wayne
,
V. Kaloustian
,
+5 authors
Richard J.H. Smith
Human Molecular Genetics
1996
Corpus ID: 30845349
The Usher syndromes (USH) are a group of autosomal recessive diseases characterized by progressive pigmentary retinopathy and…
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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. Delachapelle
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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Highly Cited
1987
Highly Cited
1987
Clustering of genes dispensable for growth in culture in the S component of the HSV-1 genome.
R. Longnecker
,
B. Roizman
Science
1987
Corpus ID: 42707450
The herpes simplex virus 1 genome consists of one long and one short stretch of unique sequences flanked by inverted repeat…
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Highly Cited
1959
Highly Cited
1959
Spectrum and Structure of the Free Methylene Radical
G. Herzberg
,
J. Shoosmith
Nature
1959
Corpus ID: 4272040
SEVENTEEN years ago, one of us1 suggested that the so-called γ4050 group observed in comets was due to the free methylene radical…
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Highly Cited
1950
Highly Cited
1950
The de Haas-van Alphen Effect
R. Dingle
,
D. Shoenberg
Nature
1950
Corpus ID: 4217716
EXPERIMENTS by one of us1 on the de Haas–van Alphen effect in gallium, tin and graphite (periodic field-dependence of magnetic…
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