(Q34463239)

2 August 2017

title

Use of spectral domain-optical coherence tomography to visualize photoreceptor abnormalities in cone-rod dystrophy 6 (English)

1 reference

2 August 2017

main subject

photoreceptor protein

0 references

1 reference

1 reference

Ben J Kim

1

1 reference

2 August 2017

Mohamed A Ibrahim

series ordinal

2

1 reference

2 August 2017

Morton F Goldberg

series ordinal

3

1 reference

2 August 2017

publication date

1 January 2011

1 reference

Retinal Cases and Brief Reports

2 August 2017

published in

1 reference

2 August 2017

volume

5

1 reference

2 August 2017

issue

1

1 reference

2 August 2017

page(s)

56-61

1 reference

Structural assessment of hyperautofluorescent ring in patients with retinitis pigmentosa

2 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3015235

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3015235

Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3015235

Abnormal cone synapses in human cone-rod dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3015235

High-definition optical coherence tomographic visualization of photoreceptor layer and retinal flecks in fundus albipunctatus associated with cone dystrophy.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3015235

Histopathologic and immunohistochemical study of dominant cone degeneration

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3015235

Codons 837 and 838 in the retinal guanylate cyclase gene on chromosome 17p: hot spots for mutations in autosomal dominant cone-rod dystrophy?

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21218126

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21218126

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21218126

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1097/ICB.0B013E3181CD1D8B

1 reference

2 August 2017

1 reference

2 August 2017

1 reference