Usher Syndrome, Type I

Known as: USH1, Usher Syndrome Type 1, US1 
A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset… (More)

Topic mentions per year

Topic mentions per year

1973-2017
0102019732017

Papers overview

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2014
2014
PURPOSE Patients with Usher syndrome type I (USH1) have retinitis pigmentosa, profound congenital hearing loss, and vestibular… (More)
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2006
Highly Cited
2006
Usher syndrome is an autosomal recessive condition characterized by sensorineural hearing loss, variable vestibular dysfunction… (More)
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Highly Cited
2005
Highly Cited
2005
Defects in myosin VIIa, harmonin (a PDZ domain protein), cadherin 23, protocadherin 15 and sans (a putative scaffolding protein… (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
2003
Highly Cited
2003
Usher syndrome type I (USH1) is the most frequent cause of hereditary deaf-blindness in humans. Seven genetic loci (USH1A-G) have… (More)
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Highly Cited
2002
Highly Cited
2002
Deaf-blindness in three distinct genetic forms of Usher type I syndrome (USH1) is caused by defects in myosin VIIa, harmonin and… (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
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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1997
1997
Usher syndrome (USH) is a clinically and genetically heterogeneous disorder characterized by congenital hearing loss combined… (More)
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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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