Usher syndrome, type 1F

 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2001-2009
01220012009

Papers overview

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2010
2010
PURPOSE PCDH15, encoding protocadherin 15, is mutated in Usher syndrome type 1F (USH1F) patients. Not only point mutations, but… (More)
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2009
2009
Protocadherin-15 (Pcdh15) plays important roles in the morphogenesis and cohesion of stereocilia bundles and in the maintenance… (More)
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Review
2007
Review
2007
PURPOSE Protocadherin-15 (PCDH15) is one of the five genes currently identified as being mutated in Usher 1 syndrome and defines… (More)
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2006
2006
PURPOSE Mutations of PCDH15, the gene encoding protocadherin 15, cause either nonsyndromic deafness DFNB23 or Usher syndrome type… (More)
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Highly Cited
2003
Highly Cited
2003
Recessive splice site and nonsense mutations of PCDH15, encoding protocadherin 15, are known to cause deafness and retinitis… (More)
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2003
2003
PURPOSE In humans, mutations in protocadherin 15 are known to result in Usher Syndrome type 1F (USH1F). Patients with USH1F are… (More)
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Highly Cited
2001
Highly Cited
2001
We have determined the molecular basis for Usher syndrome type 1F (USH1F) in two families segregating for this type of syndromic… (More)
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