Clinical characteristics of a large choroideremia pedigree carrying a novel CHM mutation (Q37700064)

22 August 2017

Clinical characteristics of a large choroideremia pedigree carrying a novel CHM mutation (English)

1 reference

22 August 2017

Alex S Huang

1

1 reference

22 August 2017

Leo A Kim

series ordinal

2

1 reference

22 August 2017

Amani A Fawzi

series ordinal

3

1 reference

22 August 2017

language of work or name

English

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publication date

1 September 2012

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22 August 2017

6

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inferred from page(s)

published in

JAMA Ophthalmology

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22 August 2017

130

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22 August 2017

9

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22 August 2017

1184-1189

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Fundus autofluorescence, optical coherence tomography, and electroretinogram findings in choroidal sclerosis

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984921

The functional effect of pathogenic mutations in Rab escort protein 1.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984921

Choroideremia: new findings from ocular pathology and review of recent literature

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984921

Choroideremia: analysis of the retina from a female symptomatic carrier

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984921

Independent degeneration of photoreceptors and retinal pigment epithelium in conditional knockout mouse models of choroideremia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984921

Structure of the Rab7:REP-1 complex: insights into the mechanism of Rab prenylation and choroideremia disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984921

Phenotypic variability in three carriers from a family with choroideremia and a frameshift mutation 1388delCCinsG in the REP-1 gene

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984921

Retrospective, longitudinal, and cross sectional study of visual acuity impairment in choroideraemia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984921

Rab GTPases, intracellular traffic and disease.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984921

Organization of the Rab-GDI/CHM superfamily: the functional basis for choroideremia disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984921

Prenylation of Rab GTPases: molecular mechanisms and involvement in genetic disease.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984921

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984921

Heterogeneous gene expression from the inactive X chromosome: an X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984921

Missense mutation in the choroideremia gene

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984921

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984921

A histopathologic study of a choroideremia carrier

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984921

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984921

Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984921

Progression of retinal pigment epithelial alterations during long-term follow-up in female carriers of choroideremia and report of a novel CHM mutation.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984921

Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984921

Clinical features of Japanese families with a 402delT or a 555-556delAG mutation in choroideremia gene

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984921

The dynamics of X-inactivation skewing as women age.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984921

Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984921

Remodeling of the Human Retina in Choroideremia: Rab Escort Protein 1 (REP-1) Mutations

1 September 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984921

2 October 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984921

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

3 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984921

Visual impairment and REP-1 gene mutations in Japanese choroideremia patients

3 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22965595

12 December 2020

inferred from PubMed ID database lookup

CHM gene molecular analysis and X-chromosome inactivation pattern determination in two families with choroideremia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22965595

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1001/ARCHOPHTHALMOL.2012.1117

1 reference

release_dbupvgerwrgj7nmykn3k6tjzdu

22 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/dbupvgerwrgj7nmykn3k6tjzdu

24 November 2022

mapped directly with Wikidata item

1 reference

22 August 2017

PubMed publication ID

22965595

1 reference