RETINITIS PIGMENTOSA 2 (disorder)

Known as: RP2, Retinitis Pigmentosa 2 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1979-2017
024619792017

Papers overview

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2013
2013
PURPOSE Mutations in the RP2 gene are associated with 10% to 15% of X-linked retinitis pigmentosa (XLRP), a debilitating disorder… (More)
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2013
2013
PURPOSE We determined the fraction of families in a well-characterized cohort with a provisional diagnosis of autosomal dominant… (More)
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2012
2012
The X-linked retinitis pigmentosa protein RP2 is a GTPase activating protein (GAP) for the small GTPase Arl3 and both proteins… (More)
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2011
2011
Genetic mutations are frequently associated with diverse phenotypic consequences, which limits the interpretation of the… (More)
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2010
2010
Ciliopathies represent a growing group of human genetic diseases whose etiology lies in defects in ciliogenesis or ciliary… (More)
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Highly Cited
2008
Highly Cited
2008
The retinitis pigmentosa 2 (RP2) gene is responsible for a particular variant of X chromosome–linked eye disease. Previously, RP2… (More)
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2006
2006
Retinitis pigmentosa (RP) is a genetically heterogeneous disease characterized by degeneration of the retina. Mutations in the… (More)
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2003
2003
Previous work has identified a role for synaptic activity in the development of excitable properties of motoneurons in the… (More)
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2002
2002
Mutations in the retinitis pigmentosa 2 (RP2) gene cause a severe form of X-linked retinal degeneration. RP2 is a ubiquitous 350… (More)
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2001
2001
X-linked Retinitis Pigmentosa (XLRP) shows a huge genetic heterogeneity with almost five distinct loci on the X chromosome. So… (More)
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