(Q37278370)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139274%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

title

The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139274%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

main subject

photoreceptor protein

0 references

author

Alfredo Dubra

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139274%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Alison Hardcastle

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139274%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

19

Maureen Neitz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139274%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

18

Jay Neitz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139274%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

16

David R Williams

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139274%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

11

Dror Sharon

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139274%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

author name string

Joseph Carroll

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139274%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Jessica C Gardner

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139274%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Liliana Mizrahi-Meissonnier

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139274%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Robert F Cooper

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139274%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Adam M Dubis

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139274%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Rick Nordgren

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139274%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Mohamed Genead

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139274%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Thomas B Connor

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139274%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Kimberly E Stepien

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139274%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

David M Hunt

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139274%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Eyal Banin

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139274%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Anthony T Moore

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139274%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Gerald Fishman

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139274%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Michel Michaelides

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139274%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

language of work or name

English

0 references

publication date

5 December 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139274%20AND%20SRC:MED&resulttype=core&format=json

Investigative Ophthalmology Visual Science

17 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139274%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

volume

53

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139274%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

issue

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139274%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

page(s)

8006-8015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139274%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

17 February 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3816954/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

Repeatability of in vivo parafoveal cone density and spacing measurements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Mechanism of all-trans-retinal toxicity with implications for stargardt disease and age-related macular degeneration

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Spatial and temporal variation of rod photoreceptor reflectance in the human retina

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Noninvasive imaging of the human rod photoreceptor mosaic using a confocal adaptive optics scanning ophthalmoscope

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Reflective afocal broadband adaptive optics scanning ophthalmoscope.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

The genetics of normal and defective color vision

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Longitudinal study of cone photoreceptors during retinal degeneration and in response to ciliary neurotrophic factor treatment

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Race- and sex-related differences in retinal thickness and foveal pit morphology.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Color-deficient cone mosaics associated with Xq28 opsin mutations: a stop codon versus gene deletions

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

X-linked cone dystrophy caused by mutation of the red and green cone opsins

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Gene therapy rescues cone function in congenital achromatopsia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Spectral domain optical coherence tomography and adaptive optics: imaging photoreceptor layer morphology to interpret preclinical phenotypes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Variable retinal phenotypes caused by mutations in the X-linked photopigment gene array

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Cone photoreceptor mosaic disruption associated with Cys203Arg mutation in the M-cone opsin

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Retinal imaging using commercial broadband optical coherence tomography

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Gene therapy for red-green colour blindness in adult primates

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Blue cone monochromacy: causative mutations and associated phenotypes.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Effect of gene therapy on visual function in Leber's congenital amaurosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Safety and efficacy of gene transfer for Leber's congenital amaurosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Restoration of cone vision in a mouse model of achromatopsia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Maximum permissible exposures for ocular safety (ANSI 2000), with emphasis on ophthalmic devices

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Variety of genotypes in males diagnosed as dichromatic on a conventional clinical anomaloscope

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Characterization of a novel form of X-linked incomplete achromatopsia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Functional photoreceptor loss revealed with adaptive optics: an alternate cause of color blindness

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Blue cone monochromatism: a phenotype and genotype assessment with evidence of progressive loss of cone function in older individuals

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

A new mechanism in blue cone monochromatism

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Genetic heterogeneity among blue-cone monochromats

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Molecular genetics of human blue cone monochromacy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Human photoreceptor topography

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Distribution and morphology of human cone photoreceptors stained with anti-blue opsin

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Defective colour vision associated with a missense mutation in the human green visual pigment gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Identification of a subtype of cone photoreceptor, likely to be blue sensitive, in the human retina.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Unique haplotype in exon 3 of cone opsin mRNA affects splicing of its precursor, leading to congenital color vision defect.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

In vivo fluorescence imaging of primate retinal ganglion cells and retinal pigment epithelial cells.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Organization of the human trichromatic cone mosaic.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

X-linked cone dysfunction syndrome with myopia and protanopia

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

X-linked high myopia associated with cone dysfunction.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Estimates of L:M cone ratio from ERG flicker photometry and genetics

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

The molecular basis of dichromatic color vision in males with multiple red and green visual pigment genes

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

Punctate sensitivity of the blue-sensitive mechanism

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3816954

3 September 2018

Identifiers

DOI

10.1167/IOVS.12-11087

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139274%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139274%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23139274%20AND%20SRC:MED&resulttype=core&format=json