Experience and strategy for the molecular testing of Duchenne muscular dystrophy (Q35789975)

10 August 2017

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title

Experience and strategy for the molecular testing of Duchenne muscular dystrophy (English)

1 reference

10 August 2017

Thomas W Prior

1

1 reference

PubMed ID

16049303

10 August 2017

Scott J Bridgeman

series ordinal

2

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PubMed ID

16049303

10 August 2017

language of work or name

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1 August 2005

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The Journal of Molecular Diagnostics

10 August 2017

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10 August 2017

7

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10 August 2017

3

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10 August 2017

317-326

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Rapid direct sequence analysis of the dystrophin gene

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867542

Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867542

Molecular characterization of further dystrophin gene microsatellites.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867542

An alternative dystrophin transcript specific to peripheral nerve

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867542

Dystrophin-glycoprotein complex: its role in the molecular pathogenesis of muscular dystrophies.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867542

Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867542

Three muscular dystrophies: loss of cytoskeleton-extracellular matrix linkage.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867542

Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867542

The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867542

Duchenne muscular dystrophy: Pathogenetic aspects and genetic prevention

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867542

Clinical investigation in duchenne dystrophy: 2. Determination of the ?power? of therapeutic trials based on the natural history

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867542

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867542

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867542

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867542

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867542

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867542

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867542

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867542

Association of dystrophin and an integral membrane glycoprotein.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867542

Dystrophin gene transcribed from different promoters in neuronal and glial cells.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867542

Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867542

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867542

Glycoprotein complex anchoring dystrophin to sarcolemma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867542

Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867542

Membrane organization of the dystrophin-glycoprotein complex

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867542

Nonradioactive assay for new microsatellite polymorphisms at the 5' end of the dystrophin gene, and estimation of intragenic recombination

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867542

Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867542

Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867542

A HindIII/BglII dystrophin gene polymorphism in the African-American population

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867542

Muscle histology and creatine kinase levels in the foetus in Duchenne muscular dystrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867542

Muscular dystrophy in childhood; the genetic aspect; a field study in the Leeds region of clinical types and their inheritance.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867542

Intellect and Behaviour in Duchenne Muscular Dystrophy

25 September 2018

1 reference

12 December 2020

Spectrum of small mutations in the dystrophin coding region

1 reference

12 December 2020

Preferential deletion of exons in Duchenne and Becker muscular dystrophies

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

Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA

1 reference

12 December 2020

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

1 reference

12 December 2020

A Point Mutation in the 5' Splice Site of the Dystrophin Gene First Intron Responsible for X-Linked Dilated Cardiomyopathy

1 reference

12 December 2020

Dystrophin expression in a Duchenne muscular dystrophy patient with a frame shift deletion

1 reference

12 December 2020

Detection of dystrophin deletion carriers using FISH analysis

1 reference

12 December 2020

Molecular probe protocol for determining carrier status in Duchenne and Becker muscular dystrophies

1 reference

12 December 2020

Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene

1 reference

12 December 2020

Diagnosis of Duchenne dystrophy by enhanced detection of small mutations

1 reference

12 December 2020

Echocardiographic evaluation of left ventricular function in Duchenne's muscular dystrophy

1 reference

12 December 2020

Duchenne muscular dystrophy: deficiency of dystrophin-associated proteins in the sarcolemma

1 reference

12 December 2020

Protein truncation test (PTT) for rapid detection of translation-terminating mutations

1 reference

12 December 2020

10.1016/S1525-1578(10)60560-0

Identifiers

DOI

1 reference

10 August 2017

1 reference

10 August 2017

1 reference

PubMed ID

16049303