Photoreceptor structure and function in patients with congenital achromatopsia. (Q35247580)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21778272 AND SRC:MED&resulttype=core&format=json

8 February 2020

title

Photoreceptor structure and function in patients with congenital achromatopsia (English)

1 reference

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8 February 2020

main subject

congenital disorder

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photoreceptor protein

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author

Alfredo Dubra

6

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8 February 2020

Edwin M. Stone

7

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8 February 2020

8

Maureen Neitz

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8 February 2020

author name string

Mohamed A Genead

1

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8 February 2020

Gerald A Fishman

2

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8 February 2020

Jungtae Rha

3

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8 February 2020

Adam M Dubis

4

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8 February 2020

Daniela Maria O Bonci

5

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8 February 2020

Joseph Carroll

9

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8 February 2020

language of work or name

English

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publication date

21 September 2011

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21778272 AND SRC:MED&resulttype=core&format=json

Investigative Ophthalmology Visual Science

8 February 2020

published in

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8 February 2020

volume

52

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8 February 2020

issue

10

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8 February 2020

page(s)

7298-7308

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

8 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3183969

Reflective afocal broadband adaptive optics scanning 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=3183969

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=3183969

Imaging retinal mosaics in the living eye.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3183969

Clinical value, normative retinal sensitivity values, and intrasession repeatability using a combined spectral domain optical coherence tomography/scanning laser ophthalmoscope microperimeter

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3183969

Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive 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=3183969

Longitudinal Study of Cone Photoreceptors during Retinal Degeneration and in Response to Ciliary Neurotrophic Factor Treatment

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3183969

Adaptive Optics Retinal Imaging: Emerging Clinical Applications

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3183969

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=3183969

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=3183969

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3183969

Applications of adaptive optics scanning laser ophthalmoscopy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3183969

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=3183969

Spectral-domain optical coherence tomography and adaptive optics may detect hydroxychloroquine retinal toxicity before symptomatic vision loss

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3183969

Variable optical activation of human cone photoreceptors visualized using a short coherence light source

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3183969

Retinal imaging using commercial broadband 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=3183969

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=3183969

In vivo imaging of the photoreceptor mosaic of a rod monochromat

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3183969

Restoration of cone vision in a mouse model of 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=3183969

Optical coherence tomography of the macula 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=3183969

Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3183969

Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3183969

Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3183969

Quantitative analysis of OCT characteristics in patients with achromatopsia and blue-cone monochromatism

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3183969

Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone 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=3183969

Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3183969

CNGA3 mutations in hereditary 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=3183969

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=3183969

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=3183969

Typical total monochromacy. A histological and psychophysical study

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3183969

Human photoreceptor topography

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3183969

Autosomal Recessive Incomplete Achromatopsia with Protan Luminosity 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=3183969

High-resolution in vivo imaging 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=3183969

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=3183969

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=3183969

Automated identification of cone photoreceptors in adaptive optics retinal images

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3183969

Standard for clinical electroretinography (2004 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=3183969

Supernormal vision and high-resolution retinal imaging through adaptive optics

26 September 2018

1 reference

12 December 2020

Acquired color vision defects

1 reference

12 December 2020

Classification of complete and incomplete autosomal recessive achromatopsia

1 reference

12 December 2020

Receptors in the monochromat eye

1 reference

12 December 2020

Congenital total color blindness: a clincopathological report

1 reference

12 December 2020

Identifiers

DOI

10.1167/IOVS.11-7762

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21778272 AND SRC:MED&resulttype=core&format=json

8 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21778272 AND SRC:MED&resulttype=core&format=json

8 February 2020

PubMed publication ID

21778272

1 reference