(Q40576679)

21 September 2017

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications (English)

1 reference

Duchenne muscular dystrophy

21 September 2017

1 reference

Den Dunnen JT

1

1 reference

21 September 2017

Grootscholten PM

2

1 reference

21 September 2017

Bakker E

3

1 reference

21 September 2017

Blonden LA

4

1 reference

21 September 2017

Ginjaar HB

5

1 reference

21 September 2017

Wapenaar MC

6

1 reference

21 September 2017

van Paassen HM

7

1 reference

21 September 2017

van Broeckhoven C

8

1 reference

21 September 2017

Pearson PL

9

1 reference

21 September 2017

van Ommen GJ

10

1 reference

21 September 2017

language of work or name

English

0 references

publication date

1 December 1989

1 reference

American Journal of Human Genetics

21 September 2017

1 reference

21 September 2017

45

1 reference

21 September 2017

835-847

1 reference

21 September 2017

6

1 reference

Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome

21 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683480

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683480

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683480

Partial gene duplication in Duchenne and Becker muscular dystrophies

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683480

The use of field-inversion gel electrophoresis for deletion detection in Duchenne muscular dystrophy

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683480

The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683480

The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683480

Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683480

Normal and dystrophin-deficient muscle fibers in carriers of the gene for Duchenne muscular dystrophy

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683480

Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683480

Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mut

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683480

Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683480

High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683480

Evidence for mutation by unequal sister chromatid exchange in the Duchenne muscular dystrophy gene

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683480

Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683480

Prenatal diagnosis of Duchenne muscular dystrophy: a three-year experience in a rapidly evolving field

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683480

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683480

Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683480

A cDNA clone from the Duchenne/Becker muscular dystrophy gene.

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683480

Mike, a chimeric filamentous phage designed for the separate production of either DNA strand of pKUN vector plasmids by F+ cells.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683480

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683480

Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683480

Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683480

Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683480

Duchenne muscular dystrophy gene product is not identical in muscle and brain.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683480

Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: isolation and use of J66 (DXS268), a distal intragenic marker

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683480

The DMD gene analysed by field inversion gel electrophoresis

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683480

Subcellular fractionation of dystrophin to the triads of skeletal muscle.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683480

Mapping of Xp21 translocation breakpoints in and around the DMD gene by pulsed field gel electrophoresis

17 June 2018

1 reference

12 December 2020

Report of the committee on the genetic constitution of the X and Y chromosomes

1 reference

12 December 2020

Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus

1 reference

12 December 2020

Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies

1 reference

12 December 2020

Carrier detection in Duchenne muscular dystrophy by use of cloned DNA sequences

1 reference

12 December 2020

Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs

1 reference

12 December 2020

Athymic mice express a high level of functional gamma-chain but greatly reduced levels of alpha- and beta-chain T-cell receptor messages

1 reference

12 December 2020

Preferential deletion of exons in Duchenne and Becker muscular dystrophies

1 reference

12 December 2020

Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels

1 reference

12 December 2020

Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy

1 reference

12 December 2020

Immunoelectron microscopic localization of dystrophin in myofibres

1 reference

12 December 2020

A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene

1 reference

12 December 2020

A deletion hot spot in the Duchenne muscular dystrophy gene

1 reference

12 December 2020

Identifiers

1 reference

21 September 2017

1 reference