(Q51750600)

English

Multiplex ligation-dependent probe amplification identification of deletions and duplications of the Duchenne muscular dystrophy gene in Taiwanese subjects.

scientific article published in May 2007

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scholarly article

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Europe PubMed Central

PubMed publication ID

11 April 2018

http://europepmc.org/abstract/MED/17561468

Multiplex ligation-dependent probe amplification identification of deletions and duplications of the Duchenne muscular dystrophy gene in Taiwanese subjects. (English)

1 reference

Europe PubMed Central

PubMed publication ID

11 April 2018

http://europepmc.org/abstract/MED/17561468

Duchenne muscular dystrophy

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author name string

Hsiao-Lin Hwa

1

1 reference

Europe PubMed Central

PubMed publication ID

11 April 2018

http://europepmc.org/abstract/MED/17561468

Yih-Yuan Chang

2

1 reference

Europe PubMed Central

PubMed publication ID

11 April 2018

http://europepmc.org/abstract/MED/17561468

Chung-Hsiung Chen

3

1 reference

Europe PubMed Central

PubMed publication ID

11 April 2018

http://europepmc.org/abstract/MED/17561468

Yen-Shi Kao

4

1 reference

Europe PubMed Central

PubMed publication ID

11 April 2018

http://europepmc.org/abstract/MED/17561468

Yuh-Jyh Jong

5

1 reference

Europe PubMed Central

PubMed publication ID

11 April 2018

http://europepmc.org/abstract/MED/17561468

Mei-Chyn Chao

6

1 reference

Europe PubMed Central

PubMed publication ID

11 April 2018

http://europepmc.org/abstract/MED/17561468

Tsang-Ming Ko

7

1 reference

Europe PubMed Central

PubMed publication ID

11 April 2018

http://europepmc.org/abstract/MED/17561468

publication date

1 May 2007

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Europe PubMed Central

PubMed publication ID

11 April 2018

http://europepmc.org/abstract/MED/17561468

Journal of the Formosan Medical Association

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Europe PubMed Central

PubMed publication ID

11 April 2018

http://europepmc.org/abstract/MED/17561468

106

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Europe PubMed Central

PubMed publication ID

11 April 2018

http://europepmc.org/abstract/MED/17561468

5

1 reference

Europe PubMed Central

PubMed publication ID

11 April 2018

http://europepmc.org/abstract/MED/17561468

339-346

1 reference

Europe PubMed Central

PubMed publication ID

11 April 2018

http://europepmc.org/abstract/MED/17561468

Population frequencies of inherited neuromuscular diseases—A world survey

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Experience and strategy for the molecular testing of Duchenne muscular dystrophy

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Dystrophin. The gene and its product

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Identification of a novel first exon in the human dystrophin gene and of a new promoter located more than 500 kb upstream of the nearest known promoter

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Duchenne and Becker muscular dystrophy: from gene diagnosis to molecular therapy

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

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

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Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies

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Genetics of Duchenne muscular dystrophy

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

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Point mutations in the dystrophin gene

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7 January 2021

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The milder phenotype of the dystrophin gene double deletions.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus

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7 January 2021

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

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Rapid identification of female carriers of DMD/BMD by quantitative real-time PCR.

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7 January 2021

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Measurement of locus copy number by hybridisation with amplifiable probes

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An alternative to FISH: detecting deletion and duplication carriers within 24 hours

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7 January 2021

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

1 reference

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

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7 January 2021

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Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA).

1 reference

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7 January 2021

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Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method.

1 reference

https://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960318-1

7 January 2021

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Deletion and duplication screening in the DMD gene using MLPA.

1 reference

https://api.crossref.org/works/10.1016%2FS0929-6646%2809%2960318-1

7 January 2021

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The mechanisms involved in formation of deletions and duplications of 15q11-q13.

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7 January 2021

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Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

1 reference

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7 January 2021

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MLPA and MAPH: new techniques for detection of gene deletions

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort

1 reference

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Denaturing HPLC coupled with multiplex PCR for rapid detection of large deletions in Duchenne muscular dystrophy carriers.

1 reference

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7 January 2021

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Identifiers

10.1016/S0929-6646(09)60318-1

1 reference

Europe PubMed Central

PubMed publication ID

11 April 2018

http://europepmc.org/abstract/MED/17561468

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

11 April 2018

http://europepmc.org/abstract/MED/17561468

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