(Q36838709)

16 August 2017

Choroideremia: analysis of the retina from a female symptomatic carrier (English)

1 reference

16 August 2017

Vera L Bonilha

1

1 reference

16 August 2017

Karmen M Trzupek

2

1 reference

16 August 2017

Yong Li

3

1 reference

16 August 2017

Peter J Francis

4

1 reference

16 August 2017

Joe G Hollyfield

5

1 reference

16 August 2017

Mary E Rayborn

6

1 reference

16 August 2017

Nizar Smaoui

7

1 reference

16 August 2017

Richard G Weleber

8

1 reference

16 August 2017

language of work or name

1 reference

1 September 2008

1 reference

16 August 2017

1 reference

16 August 2017

29

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16 August 2017

3

1 reference

16 August 2017

99-110

1 reference

Noncell-autonomous photoreceptor degeneration in a zebrafish model of choroideremia

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652314

Abnormal distribution of red/green cone opsins in a patient with an autosomal dominant cone dystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652314

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652314

Clinical findings in a carrier of a new mutation in the choroideremia gene.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652314

Rab escort protein 1 (REP1) in intracellular traffic: a functional and pathophysiological overview.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652314

Gene action in the X-chromosome of the mouse (Mus musculus L.)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652314

Macular pigment and lutein supplementation in choroideremia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652314

The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652314

Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652314

A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652314

The arrangement of the three cone classes in the living human eye.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652314

A practical diagnostic test for choroideremia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652314

Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652314

Deficient geranylgeranylation of Ram/Rab27 in choroideremia.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652314

Choroideremia. Study of a family and literature review

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652314

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652314

Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652314

Detection of localized retinal dysfunction in a choroideremia carrier

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652314

Packing arrangement of the three cone classes in primate retina

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652314

Immunohistochemical detection of retinal cones in monkey retina: light and electron microscopic study.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652314

Histopathologic and immunohistochemical study of an autopsy eye with X-linked cone degeneration.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3652314

Clinical and Functional Findings in Choroideremia Due to Complete Deletion of the CHM Gene

5 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1080%2F13816810802206499

Choroideremia associated with subretinal neovascular membrane

21 January 2018

1 reference

12 December 2020

Role of the retinal pigment epithelium in macular disease

1 reference

12 December 2020

Pathological findings from two cases of choroideremia

1 reference

12 December 2020

Choroideremia: a clinical, electron microscopic, and biochemical report

1 reference

12 December 2020

Histopathologic observations in choroideremia with emphasis on vascular changes of the uveal tract

1 reference

12 December 2020

10.1080/13816810802206499

Identifiers

DOI

1 reference

16 August 2017

1 reference

16 August 2017

PubMed publication ID

18766988

1 reference