Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy (Q37340016)

19 August 2017

Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy (English)

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19 August 2017

Peter J Taylor

1

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19 August 2017

Sarah Maroulis

2

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19 August 2017

Glenda L Mullan

3

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19 August 2017

Robyn L Pedersen

4

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19 August 2017

Aurora Baumli

5

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19 August 2017

George Elakis

6

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19 August 2017

Sara Piras

7

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19 August 2017

Corrina Walsh

8

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19 August 2017

Benito Prósper-Gutiérrez

9

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19 August 2017

Fernando De La Puente-Alonso

10

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19 August 2017

Christopher G Bell

11

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19 August 2017

David R Mowat

12

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19 August 2017

Heather M Johnston

13

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19 August 2017

Michael F Buckley

14

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19 August 2017

language of work or name

English

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publication date

26 January 2007

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Journal of Medical Genetics

19 August 2017

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19 August 2017

44

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19 August 2017

6

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19 August 2017

368-372

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Copy number variation in the genome; the human DMD gene as an example

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740880

A different spectrum of DMD gene mutations in local Chinese patients with Duchenne/Becker muscular dystrophy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740880

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740880

Experience and strategy for the molecular testing of Duchenne muscular dystrophy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740880

Rapid direct sequence analysis of the dystrophin gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740880

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740880

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740880

DNA probe analysis for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy: a standard diagnostic procedure

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740880

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740880

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740880

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740880

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740880

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740880

What is the clinical utility of genetic testing?

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740880

MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740880

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740880

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740880

A study on duplications of the dystrophin gene: evidence of a geographical difference in the distribution of breakpoints by intron

2 September 2018

1 reference

12 December 2020

Proportion and pattern of dystrophin gene deletions in north Indian Duchenne and Becker muscular dystrophy patients

1 reference

12 December 2020

High frequency of de novo deletions in Mexican Duchenne and Becker muscular dystrophy patients. Implications for genetic counseling

1 reference

12 December 2020

Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort

1 reference

12 December 2020

Deletion pattern in the dystrophin gene in Turks and a comparison with Europeans and Indians

1 reference

12 December 2020

De novo mutations in sporadic deletional Duchenne muscular dystrophy (DMD) cases

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12 December 2020

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

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12 December 2020

Relatively low proportion of dystrophin gene deletions in Israeli Duchenne and Becker muscular dystrophy patients

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12 December 2020

High frequency of new mutations in North Indian Duchenne/Becker muscular dystrophy patients

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12 December 2020

Identifiers

DOI

10.1136/JMG.2006.047464

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19 August 2017

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19 August 2017

PubMed publication ID

17259292

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