Improved diagnosis of Duchenne/Becker muscular dystrophy (Q34244158)

31 July 2017

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title

Improved diagnosis of Duchenne/Becker muscular dystrophy (English)

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31 July 2017

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A H Beggs

1

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31 July 2017

L M Kunkel

series ordinal

2

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31 July 2017

language of work or name

English

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publication date

1 March 1990

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Journal of Clinical Investigation

31 July 2017

published in

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31 July 2017

volume

85

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31 July 2017

issue

3

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31 July 2017

page(s)

613-619

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Duchenne muscular dystrophy: Pathogenetic aspects and genetic prevention

31 July 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296473

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296473

Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296473

Localisation of the Becker muscular dystrophy gene on the short arm of the X chromosome by linkage to cloned DNA sequences

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296473

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296473

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy 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=296473

A cDNA clone from the Duchenne/Becker muscular dystrophy 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=296473

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296473

Partial gene duplication in Duchenne and Becker muscular dystrophies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296473

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296473

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296473

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296473

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296473

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296473

Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA 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=296473

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296473

Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296473

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296473

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296473

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296473

A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296473

Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296473

Estimate of the proportion of Duchenne muscular dystrophy with autosomal recessive inheritance

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296473

Dystrophin analysis in clonal myoblasts derived from a Duchenne muscular dystrophy carrier

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296473

Rapid carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296473

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296473

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296473

Germline mosaicism and Duchenne muscular dystrophy mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=296473

Cytogenetic heterogeneity of translocations associated with Duchenne muscular dystrophy

28 October 2018

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12 December 2020

Recombination with pERT87 (DXS164) in families with X-linked muscular dystrophy

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12 December 2020

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy

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12 December 2020

Protein sequence of DMD gene is related to actin-binding domain of alpha-actinin

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12 December 2020

A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome

1 reference

12 December 2020

Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy

1 reference

12 December 2020

Preferential deletion of exons in Duchenne and Becker muscular dystrophies

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12 December 2020

alpha-Actinins and the DMD protein contain spectrin-like repeats

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Immunoelectron microscopic localization of dystrophin in myofibres

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12 December 2020

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

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12 December 2020

Improved diagnosis of Becker muscular dystrophy by dystrophin testing

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12 December 2020

Identifiers

DOI

10.1172/JCI114482

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31 July 2017

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31 July 2017

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