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USHER SYNDROME, TYPE IB (disorder)

Known as: USH1B, USHER SYNDROME, TYPE IB 
National Institutes of Health

Papers overview

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Highly Cited
2011
Highly Cited
2011
PURPOSE. To determine the disease course in Usher syndrome type IB (USH1B) caused by myosin 7A (MYO7A) gene mutations. METHODS… Expand
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Highly Cited
2009
Highly Cited
2009
PURPOSE Usher syndrome (USH) is a genetically heterogeneous disease with autosomal recessive deafness and blindness. Gene therapy… Expand
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Highly Cited
2008
Highly Cited
2008
Usher syndrome (USH) is a genetically heterogeneous group of autosomal recessive deaf-blinding disorders. Pathophysiology leading… Expand
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Highly Cited
2008
Highly Cited
2008
Recessive mutations of MYO7A, encoding unconventional myosin VIIA, can cause either a deaf‐blindness syndrome (type 1 Usher… Expand
2006
2006
To the Editor: Usher syndrome type I (USH1) is an autosomal recessive condition characterized by profound congenital hearing… Expand
2005
2005
Audiometric features, evaluated by serial pure tone audiometry and speech recognition tests (n = 31), were analysed in 59 Finnish… Expand
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Review
2001
Review
2001
  • 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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1999
1999
OBJECTIVE To evaluate hearing impairment in 2 common genetic subtypes of Usher syndrome, USH1B and USH2A. DESIGN Cross… Expand
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Highly Cited
1997
Highly Cited
1997
Hereditary non-syndromic profound deafness affects about 1 in 2000 children prior to language acquisition. In 80% of the cases… Expand
Highly Cited
1996
Highly Cited
1996
The gene encoding human myosin VIIA is responsible for Usher syndrome type III (USH1B), a disease which associates profound… Expand