|
Enhanced S-Cone Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Enhanced S-Cone Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Enhanced S-Cone Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Enhanced S-cone syndrome (ESCS), also known as Goldmann-Favre syndrome, is a progressive retinal degeneration that frequently presents with night blindness and nummular pigment clumping around the vascular arcades and is caused by recessive mutations in the photoreceptor-specific NR2E3 transcription factor.
|
20171741 |
2010 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A cohort of patients diagnosed with ESCS and harboring known NR2E3 mutations.
|
23989059 |
2013 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.
|
19898638 |
2009 |
|
Enhanced S-Cone Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.
|
19898638 |
2009 |
|
Enhanced S-Cone Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse.
|
10805811 |
2000 |
|
Enhanced S-Cone Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
A novel mutation in Prph2, a gene regulated by Nr2e3, causes retinal degeneration and outer-segment defects similar to Nr2e3 ( rd7/rd7 ) retinas.
|
18763016 |
2008 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.
|
18294254 |
2008 |
|
Enhanced S-Cone Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.
|
18294254 |
2008 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene.
|
17601449 |
2007 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cone Vision Changes in the Enhanced S-Cone Syndrome Caused by NR2E3 Gene Mutations.
|
29971438 |
2018 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.
|
25097241 |
2014 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome.
|
21364904 |
2011 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome.
|
21364904 |
2011 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Electroretinography responses of both patients were dominated by short-wavelength-sensitive mechanisms, with no detectable rod function, similar to the ERG responses of individuals with enhanced S-cone syndrome (ESCS) due to NR2E3 mutations.
|
27732723 |
2016 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis identified the presence of novel double heterozygous of c.361G>A; p.E121K in NR2E3, a gene responsible for enhanced S-cone syndrome (ESCS; OMIM #268100) and c.244A>G; p.K82E in OPN1LW, a gene responsible for blue cone monochromacy (BCM; OMIM#303700).
|
30614359 |
2019 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.
|
27032803 |
2016 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
In 94% of a cohort of ESCS probands we found mutations in NR2E3 (also known as PNR), which encodes a retinal nuclear receptor recently discovered to be a ligand-dependent transcription factor.
|
10655056 |
2000 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
In 94% of a cohort of ESCS probands we found mutations in NR2E3 (also known as PNR), which encodes a retinal nuclear receptor recently discovered to be a ligand-dependent transcription factor.
|
10655056 |
2000 |
|
Enhanced S-Cone Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
In 94% of a cohort of ESCS probands we found mutations in NR2E3 (also known as PNR), which encodes a retinal nuclear receptor recently discovered to be a ligand-dependent transcription factor.
|
10655056 |
2000 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In 94% of a cohort of ESCS probands we found mutations in NR2E3 (also known as PNR), which encodes a retinal nuclear receptor recently discovered to be a ligand-dependent transcription factor.
|
10655056 |
2000 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
In 94% of a cohort of ESCS probands we found mutations in NR2E3 (also known as PNR), which encodes a retinal nuclear receptor recently discovered to be a ligand-dependent transcription factor.
|
10655056 |
2000 |
|
Enhanced S-Cone Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in NR2E3 are associated with enhanced S-cone syndrome and related retinal phenotypes that reveal characteristic excess of S-cone function.
|
19898638 |
2009 |