Deep Phenotyping of PDE6C-Associated Achromatopsia (Q91882984)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31826238 AND SRC:MED&resulttype=core&format=json

25 April 2020

title

Deep Phenotyping of PDE6C-Associated Achromatopsia (English)

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25 April 2020

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4

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author name string

Michalis Georgiou

1

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25 April 2020

Anthony G Robson

2

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25 April 2020

Navjit Singh

3

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25 April 2020

Thomas Kane

5

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25 April 2020

Nashila Hirji

6

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25 April 2020

Caterina Ripamonti

7

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25 April 2020

Tryfon Rotsos

8

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25 April 2020

Alfredo Dubra

9

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25 April 2020

Angelos Kalitzeos

10

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25 April 2020

Andrew R Webster

11

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25 April 2020

Joseph Carroll

12

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25 April 2020

Michel Michaelides

13

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25 April 2020

publication date

1 December 2019

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Investigative Ophthalmology Visual Science

25 April 2020

published in

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25 April 2020

volume

60

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25 April 2020

issue

15

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25 April 2020

page(s)

5112-5123

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Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International

25 April 2020

copyright license

start time

11 December 2019

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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Quantitative Analysis of Retinal Structure Using Spectral-Domain Optical Coherence Tomography in RPGR-Associated Retinopathy

23 February 2021

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Reliability and Repeatability of Cone Density Measurements in Patients with Congenital Achromatopsia

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ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement

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Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

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23 February 2021

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23 February 2021

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23 February 2021

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23 February 2021

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23 February 2021

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23 February 2021

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23 February 2021

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23 February 2021

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23 February 2021

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23 February 2021

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23 February 2021

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23 February 2021

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Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2)

23 February 2021

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

23 February 2021

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CNGA3 mutations in hereditary cone photoreceptor disorders

23 February 2021

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23 February 2021

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Colour discrimination ellipses in patients with dominant optic atrophy

23 February 2021

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Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11

23 February 2021

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23 February 2021

Identifiers

DOI

10.1167/IOVS.19-27761

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31826238 AND SRC:MED&resulttype=core&format=json

25 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31826238 AND SRC:MED&resulttype=core&format=json

25 April 2020

PubMed publication ID

31826238

1 reference