Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene (Q36253474)

13 August 2017

Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene (English)

1 reference

13 August 2017

9

Mireille Claustres

1 reference

13 August 2017

Sylvie Tuffery-Giraud

object named as

Sylvie Tuffery-Giraud

10

1 reference

13 August 2017

Aliya Ishmukhametova

1

1 reference

13 August 2017

Philippe Khau Van Kien

2

1 reference

13 August 2017

Déborah Méchin

3

1 reference

13 August 2017

Delphine Thorel

4

1 reference

13 August 2017

Marie-Claire Vincent

5

1 reference

13 August 2017

François Rivier

6

1 reference

13 August 2017

Christine Coubes

7

1 reference

13 August 2017

Véronique Humbertclaude

8

1 reference

13 August 2017

18 April 2012

1 reference

European Journal of Human Genetics

13 August 2017

1 reference

13 August 2017

20

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13 August 2017

10

1 reference

13 August 2017

1096-1100

1 reference

Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449082

Genomic rearrangements in inherited disease and cancer

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449082

LINE dancing in the human genome: transposable elements and disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449082

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449082

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449082

Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449082

Microarray-based mutation detection in the dystrophin gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449082

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449082

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

30 September 2017

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.51

De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.51

Regional genomic instability predisposes to complex dystrophin gene rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.51

Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.51

Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449082

Mosaic expression of two dystrophins in a boy with progressive muscular dystrophy

22 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22510846

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22510846

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22510846

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2012.51

1 reference

13 August 2017

1 reference

13 August 2017

PubMed publication ID

22510846

1 reference