Molecular genetic diagnostic techniques in choroideremia (Q34418549)

2 August 2017

title

Molecular genetic diagnostic techniques in choroideremia (English)

1 reference

2 August 2017

Mira J B Furgoch

1

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2 August 2017

Jacqueline Mewes-Arès

series ordinal

2

1 reference

2 August 2017

Alina Radziwon

series ordinal

3

1 reference

2 August 2017

Ian M Macdonald

series ordinal

4

1 reference

2 August 2017

publication date

25 April 2014

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2 August 2017

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2 August 2017

volume

20

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2 August 2017

page(s)

535-544

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High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy

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=4000712

The functional effect of pathogenic mutations in Rab escort protein 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=4000712

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000712

Choroideremia gene testing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000712

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000712

THE LIMITED IN VITRO LIFETIME OF HUMAN DIPLOID CELL STRAINS

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000712

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000712

Structure of Rab escort protein-1 in complex with Rab geranylgeranyltransferase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000712

Translational control by the 3'-UTR: the ends specify the means.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000712

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000712

A practical diagnostic test for choroideremia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000712

Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000712

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000712

Cloning and characterization of the human choroideremia gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000712

Deficient geranylgeranylation of Ram/Rab27 in choroideremia.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000712

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000712

Copy number variant analysis in CHM to detect duplications underlying choroideremia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000712

A meta-analysis of nonsense mutations causing human genetic disease.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000712

Mutational analysis of patients with the diagnosis of choroideremia

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000712

Mutation analysis in Canadian families with choroideremia

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000712

Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4000712

Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24791138

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

PMC publication ID

4000712

1 reference

2 August 2017

1 reference