(Q35083512)

6 August 2017

Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel (English)

1 reference

Becker muscular dystrophy

6 August 2017

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1 reference

6

Julie M Gastier-Foster

1 reference

6 August 2017

Lisa Kalman

1

1 reference

6 August 2017

Jay Leonard

2

1 reference

6 August 2017

Norman Gerry

3

1 reference

6 August 2017

Jack Tarleton

4

1 reference

6 August 2017

Christina Bridges

5

1 reference

6 August 2017

Robert E Pyatt

7

1 reference

6 August 2017

Eileen Stonerock

8

1 reference

6 August 2017

Monique A Johnson

9

1 reference

6 August 2017

C Sue Richards

10

1 reference

6 August 2017

Iris Schrijver

11

1 reference

6 August 2017

Tianhui Ma

12

1 reference

6 August 2017

Vanessa Rangel Miller

13

1 reference

6 August 2017

Yetsa Adadevoh

14

1 reference

6 August 2017

Pat Furlong

15

1 reference

6 August 2017

Christine Beiswanger

16

1 reference

6 August 2017

Lorraine Toji

17

1 reference

6 August 2017

1 March 2011

1 reference

The Journal of Molecular Diagnostics

6 August 2017

1 reference

6 August 2017

13

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6 August 2017

2

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6 August 2017

167-174

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describes a project that uses

6 August 2017

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Good laboratory practices for molecular genetic testing for heritable diseases and conditions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128550

Multiplex PCR for identifying DMD gene deletions.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128550

Therapeutic modulation of DMD splicing by blocking exonic splicing enhancer sites with antisense oligonucleotides

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128550

Developing a sustainable process to provide quality control materials for genetic testing

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128550

Experience and strategy for the molecular testing of Duchenne muscular dystrophy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128550

Establishment of Stably EBV-Transformed Cell Lines from Residual Clinical Blood Samples for Use in Performance Evaluation and Quality Assurance in Molecular Genetic Testing

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128550

Rapid direct sequence analysis of the dystrophin gene

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128550

Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128550

Molecular analysis of a constitutional X-autosome translocation in a female with muscular dystrophy.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128550

A simple salting out procedure for extracting DNA from human nucleated cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128550

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128550

Dystrophin abnormalities in Duchenne/Becker muscular dystrophy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128550

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3128550

Successful transformation of cryopreserved lymphocytes: a resource for epidemiological studies

8 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21354051

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21354051

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Association for Molecular Pathology statement. Recommendations for in-house development and operation of molecular diagnostic tests

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21354051

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.JMOLDX.2010.11.018

1 reference

6 August 2017

1 reference

6 August 2017

1 reference