(Q55252675)

29 June 2018

title

Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy. (English)

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29 June 2018

12

Paul A Romitti

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29 June 2018

Katherine D Mathews

4

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author name string

Christopher Cunniff

1

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29 June 2018

Jennifer Andrews

2

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29 June 2018

F John Meaney

3

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29 June 2018

Dennis Matthews

5

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29 June 2018

Emma Ciafaloni

6

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29 June 2018

Timothy M Miller

7

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29 June 2018

John B Bodensteiner

8

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29 June 2018

Lisa A Miller

9

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29 June 2018

Katherine A James

10

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29 June 2018

Charlotte M Druschel

11

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29 June 2018

Shree Pandya

13

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29 June 2018

publication date

12 December 2008

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29 June 2018

Journal of Child Neurology

published in

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29 June 2018

volume

24

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29 June 2018

issue

4

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29 June 2018

page(s)

425-430

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29 June 2018

PTC124 targets genetic disorders caused by nonsense mutations

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5882193

Readthrough strategies for stop codons in Duchenne muscular dystrophy

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5882193

The muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): surveillance methodology

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5882193

Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5882193

Dystrophin and mutations: one gene, several proteins, multiple phenotypes

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5882193

Rapid direct sequence analysis of the dystrophin gene

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5882193

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

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5882193

Measurement of locus copy number by hybridisation with amplifiable probes

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5882193

On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5882193

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

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5882193

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

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5882193

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

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5882193

Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5882193

Three-tiered noninvasive diagnosis in 96% of patients with Duchenne muscular dystrophy (DMD).

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5882193

Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA)

13 August 2018

1 reference

12 December 2020

Duplications in the DMD gene

1 reference

12 December 2020

Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction. A multicenter study

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

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

1 reference

12 December 2020

Identifiers

DOI

10.1177/0883073808324770

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29 June 2018

PMC publication ID

5882193

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29 June 2018

PubMed publication ID

19074751

1 reference

29 June 2018