(Q35581056)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24504161%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

title

Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24504161%20AND%20SRC:MED&resulttype=core&format=json

optical coherence tomography

7 March 2020

main subject

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24504161%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

9

Lawrence A Yannuzzi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24504161%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

5

Tobias Duncker

1 reference

7 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24504161%20AND%20SRC:MED&resulttype=core&format=json

2

Jerome Sherman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24504161%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

author name string

Jonathan P Greenberg

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24504161%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Sandrine A Zweifel

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24504161%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Royce W S Chen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24504161%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Britta Baumann

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24504161%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Bernd Wissinger

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24504161%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

Stephen H Tsang

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24504161%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

language of work or name

English

0 references

publication date

1 April 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24504161%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24504161%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

volume

132

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24504161%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24504161%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

page(s)

437-445

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24504161%20AND%20SRC:MED&resulttype=core&format=json

A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia

7 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=4423754

The bisretinoids of retinal pigment epithelium

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423754

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423754

Quantitative measurements of autofluorescence with the scanning laser ophthalmoscope

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423754

CNTF mediates neurotrophic factor secretion and fluid absorption in human retinal pigment epithelium

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423754

Photoreceptor structure and function in patients with congenital achromatopsia.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423754

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423754

Stem cell-based therapeutic applications in retinal degenerative diseases

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423754

Interpretations of fundus autofluorescence from studies of the bisretinoids of the retina

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423754

Current approaches and future prospects for stem cell rescue and regeneration of the retina and optic nerve.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423754

Restoration of cone vision in the CNGA3-/- mouse model of congenital complete lack of cone photoreceptor function

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423754

Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423754

Gene therapy rescues cone function in congenital achromatopsia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423754

CNTF induces regeneration of cone outer segments in a rat model of retinal degeneration

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423754

Arrested development: high-resolution imaging of foveal morphology in albinism

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423754

Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423754

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423754

A comparison of fundus autofluorescence and retinal structure in patients with Stargardt disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423754

Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423754

Functional correlates of fundus autofluorescence abnormalities in patients with RPGR or RIMS1 mutations causing cone or cone rod dystrophy.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423754

A2E, a fluorophore of RPE lipofuscin, can destabilize membrane

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423754

The cone dysfunction syndromes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423754

Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423754

Fundus autofluorescence and development of geographic atrophy in age-related macular degeneration.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423754

Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423754

Selective loss of cone function in mice lacking the cyclic nucleotide-gated channel CNG3.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423754

Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423754

Early signs of longitudinal progressive cone photoreceptor degeneration in achromatopsia.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423754

High-resolution in vivo imaging in achromatopsia.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423754

Genetic etiology and clinical consequences of complete and incomplete achromatopsia.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423754

ISCEV Standard for full-field clinical electroretinography (2008 update).

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423754

Fundus autofluorescence imaging of retinal dystrophies

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423754

CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423754

Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423754

The lipofuscin fluorophore A2E mediates blue light-induced damage to retinal pigmented epithelial cells.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4423754

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24504161

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Inhibition of lysosomal degradative functions in RPE cells by a retinoid component of lipofuscin

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24504161

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1001/JAMAOPHTHALMOL.2013.7987

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24504161%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24504161%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24504161%20AND%20SRC:MED&resulttype=core&format=json