Usher Syndrome

Known as: RETINITIS PIGMENTOSA 8, FORMERLY, Syndrome, Deafness-Retinitis Pigmentosa, Syndromes, Usher 
Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and… (More)

Topic mentions per year

Topic mentions per year

1935-2018
0204019352017

Papers overview

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2007
2007
BACKGROUND Usher syndrome, a combination of retinitis pigmentosa (RP) and sensorineural hearing loss with or without vestibular… (More)
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2004
2004
Usher syndrome type I (USH1), the most severe form of this syndrome, is characterized by profound congenital sensorineural… (More)
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Highly Cited
2001
Highly Cited
2001
Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss… (More)
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Highly Cited
2001
Highly Cited
2001
Human chromosome 10q21-22 harbors USH1F in a region of conserved synteny to mouse chromosome 10. This region of mouse chromosome… (More)
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Highly Cited
2001
Highly Cited
2001
Genes causing nonsyndromic autosomal recessive deafness (DFNB12) and deafness associated with retinitis pigmentosa and vestibular… (More)
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Highly Cited
2000
Highly Cited
2000
Usher syndrome type 1 (USH1) is an autosomal recessive sensory defect involving congenital profound sensorineural deafness… (More)
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Highly Cited
1998
Highly Cited
1998
Usher syndrome type IIa (OMIM 276901), an autosomal recessive disorder characterized by moderate to severe sensorineural hearing… (More)
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Highly Cited
1995
Highly Cited
1995
Usher syndrome represents the association of a hearing impairment with retinitis pigmentosa and is the most frequent cause of… (More)
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Highly Cited
1995
Highly Cited
1995
Myosin VIIa is a newly identified member of the myosin superfamily of actin-based motors. Recently, the myosin VIIa gene was… (More)
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Highly Cited
1994
Highly Cited
1994
The Usher syndromes are genetically distinct disorders which share specific phenotypic characteristics. This paper describes a… (More)
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