RETINITIS PIGMENTOSA 37 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.
|
27032803 |
2016 |
RETINITIS PIGMENTOSA 37 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
|
23591405 |
2014 |
RETINITIS PIGMENTOSA 37 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.
|
25097241 |
2014 |
RETINITIS PIGMENTOSA 37 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
The crystal structure of the orphan nuclear receptor NR2E3/PNR ligand binding domain reveals a dimeric auto-repressed conformation.
|
24069298 |
2013 |
RETINITIS PIGMENTOSA 37 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome.
|
21364904 |
2011 |
RETINITIS PIGMENTOSA 37 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.
|
19006237 |
2009 |
RETINITIS PIGMENTOSA 37 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patients.
|
19273793 |
2009 |
RETINITIS PIGMENTOSA 37 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patients.
|
19273793 |
2009 |
RETINITIS PIGMENTOSA 37 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.
|
19898638 |
2009 |
RETINITIS PIGMENTOSA 37 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.
|
19898638 |
2009 |
RETINITIS PIGMENTOSA 37 (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.
|
19006237 |
2009 |
RETINITIS PIGMENTOSA 37 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.
|
18294254 |
2008 |
RETINITIS PIGMENTOSA 37 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
The loss of transcriptional inhibition by the photoreceptor-cell specific nuclear receptor (NR2E3) is not a necessary cause of enhanced S-cone syndrome.
|
17438525 |
2007 |
RETINITIS PIGMENTOSA 37 (disorder)
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa.
|
17564971 |
2007 |
RETINITIS PIGMENTOSA 37 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes.
|
15689355 |
2005 |
RETINITIS PIGMENTOSA 37 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.
|
15459973 |
2004 |
RETINITIS PIGMENTOSA 37 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.
|
15459973 |
2004 |
RETINITIS PIGMENTOSA 37 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration.
|
12963616 |
2003 |
RETINITIS PIGMENTOSA 37 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration.
|
11773633 |
2002 |
RETINITIS PIGMENTOSA 37 (disorder)
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.
|
10655056 |
2000 |
RETINITIS PIGMENTOSA 37 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.
|
10655056 |
2000 |
RETINITIS PIGMENTOSA 37 (disorder)
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.
|
11071390 |
2000 |
RETINITIS PIGMENTOSA 37 (disorder)
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
RETINITIS PIGMENTOSA 37 (disorder)
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|