(Q35515248)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23989059%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

title

Expanded clinical spectrum of enhanced S-cone syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23989059%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

main subject

enhanced S-cone syndrome

1 reference

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23989059%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

8

Lawrence A Yannuzzi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23989059%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

1

Suzanne Yzer

1 reference

8 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23989059%20AND%20SRC:MED&resulttype=core&format=json

Irene Barbazetto

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23989059%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Rando Allikmets

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23989059%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Mary J van Schooneveld

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23989059%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Arthur Bergen

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23989059%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Stephen H Tsang

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23989059%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

language of work or name

English

0 references

publication date

1 October 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23989059%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23989059%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

volume

131

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23989059%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23989059%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

page(s)

1324-1330

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23989059%20AND%20SRC:MED&resulttype=core&format=json

Anatomical correlates to the bands seen in the outer retina by optical coherence tomography: literature review and model

8 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405536

Retinal pathology of a patient with Goldmann-Favre syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405536

Cellular origin of fundus autofluorescence in patients and mice with a defective NR2E3 gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405536

Nr2e3-directed transcriptional regulation of genes involved in photoreceptor development and cell-type specific phototransduction

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405536

The rod photoreceptor-specific nuclear receptor Nr2e3 represses transcription of multiple cone-specific genes.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405536

Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405536

Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405536

The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405536

Nrl is required for rod photoreceptor development

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405536

Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405536

Enhanced S cone syndrome: evidence for an abnormally large number of S cones.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405536

SWS (blue) cone hypersensitivity in a newly identified retinal degeneration.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405536

Human photoreceptor topography

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405536

Relatively enhanced S cone function in the Goldmann-Favre syndrome.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405536

Diagnostic features of the Favre-Goldmann syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405536

Peculiar fundus abnormalities and pathognomonic electrophysiological findings in a 14-month-old boy with NR2E3 mutations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405536

Defective photoreceptor phagocytosis in a mouse model of enhanced S-cone syndrome causes progressive retinal degeneration

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405536

Focus on molecules: nuclear hormone receptor Nr2e3: impact on retinal development and disease

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405536

Torpedo maculopathy at the site of the fetal "bulge".

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405536

Helicoid subretinal fibrosis associated with a novel recessive NR2E3 mutation p.S44X.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405536

Outer retinal tubulation: a novel optical coherence tomography finding

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405536

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405536

Phenotypic features of patients with NR2E3 mutations.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405536

Phenotypic variation in enhanced S-cone syndrome

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405536

Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405536

Enhanced S-cone syndrome with subfoveal neovascularization.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405536

Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405536

S cone-driven but not S cone-type electroretinograms in the enhanced S cone syndrome

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405536

Atypical Mild Enhanced S-Cone Syndrome with Novel Compound Heterozygosity of the NR2E3 Gene

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4405536

The Enhanced S Cone Syndrome: An Analysis of Receptoral and Post-receptoral Changes

15 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23989059

12 December 2020

inferred from PubMed ID database lookup

Clinical and histopathologic findings in clumped pigmentary retinal degeneration

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23989059

12 December 2020

inferred from PubMed ID database lookup

Genetic ablation of cone photoreceptors eliminates retinal folds in the retinal degeneration 7 (rd7) mouse

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23989059

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1001/JAMAOPHTHALMOL.2013.4349

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23989059%20AND%20SRC:MED&resulttype=core&format=json

release_3iby6rxg6fgmla73aac644mxey

8 March 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/3iby6rxg6fgmla73aac644mxey

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23989059%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

1 reference