(Q35158277)

6 August 2017

title

Whole dystrophin gene analysis by next-generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy (English)

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6 August 2017

Yan Wang

1

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6 August 2017

Yao Yang

2

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6 August 2017

Jing Liu

3

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6 August 2017

Xiao-Chun Chen

4

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6 August 2017

Xin Liu

5

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6 August 2017

Chun-Zhi Wang

6

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6 August 2017

Xi-Yu He

7

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6 August 2017

publication date

27 April 2014

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Molecular Genetics and Genomics

6 August 2017

published in

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6 August 2017

volume

289

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6 August 2017

issue

5

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6 August 2017

page(s)

1013-1021

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describes a project that uses

6 August 2017

massive parallel sequencing

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Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing

inferred from title

cites work

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https://api.crossref.org/works/10.1007%2FS00438-014-0847-Z

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00438-014-0847-Z

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

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00438-014-0847-Z

Molecular analysis of the dystrophin gene in 407 Chinese patients with Duchenne/Becker muscular dystrophy by the combination of multiplex ligation-dependent probe amplification and Sanger sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00438-014-0847-Z

Rapid direct sequence analysis of the dystrophin gene

21 January 2018

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Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort

21 January 2018

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Automated sequence screening of the entire dystrophin cDNA in Duchenne dystrophy: point mutation detection.

21 January 2018

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Deletion and duplication screening in the DMD gene using MLPA.

21 January 2018

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Combination of conventional multiplex PCR and quantitative real-time PCR detects large rearrangements in the dystrophin gene in 59% of Syrian DMD/BMD patients.

21 January 2018

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A Streamlined Protocol for Molecular Testing of the DMD Gene within a Diagnostic Laboratory: A Combination of Array Comparative Genomic Hybridization and Bidirectional Sequence Analysis

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00438-014-0847-Z

Empirical evaluation of oligonucleotide probe selection for DNA microarrays

21 January 2018

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Infidelity in the structure of ectopic transcripts: a novel exon in lymphocyte dystrophin transcripts

21 January 2018

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Improved detection of deletions and duplications in the DMD gene using the multiplex ligation-dependent probe amplification (MLPA) method.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00438-014-0847-Z

Next generation sequencing in cancer research and clinical application

21 January 2018

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Multiple splicing defects in an intronic false exon

21 January 2018

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Sensitivity and frequencies of dystrophin gene mutations in Thai DMD/BMD patients as detected by multiplex PCR.

21 January 2018

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Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.

21 January 2018

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MLPA analysis/complete sequencing of the DMD gene in a group of Bulgarian Duchenne/Becker muscular dystrophy patients

21 January 2018

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A novel cryptic exon identified in the 3' region of intron 2 of the human dystrophin gene.

21 January 2018

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Log-PCR: a new tool for immediate and cost-effective diagnosis of up to 85% of dystrophin gene mutations.

21 January 2018

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

21 January 2018

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Detection of truncated dystrophin lacking the C-terminal domain in a Chinese pedigree by next-generation sequencing

21 January 2018

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

21 January 2018

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MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD.

21 January 2018

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DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients

21 January 2018

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Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene

21 January 2018

1 reference

12 December 2020

A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5

1 reference

12 December 2020

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

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12 December 2020

The muscular dystrophies

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12 December 2020

DGGE analysis as a tool to identify point mutations, de novo mutations and carriers of the dystrophin gene

1 reference

12 December 2020

A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave

1 reference

12 December 2020

Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients

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12 December 2020

Duplications in the DMD gene

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12 December 2020

Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform

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12 December 2020

Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort

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12 December 2020

Use of multiplex ligation-dependent probe amplification (MLPA) for Duchenne muscular dystrophy (DMD) gene mutation analysis.

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12 December 2020

Risk assessment and genetic counseling in families with Duchenne muscular dystrophy

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12 December 2020

Two hot spots of recombination in the DMD gene correlate with the deletion prone regions

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12 December 2020

Diagnosis of Duchenne dystrophy by enhanced detection of small mutations

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12 December 2020

Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene

1 reference

12 December 2020

A novel cryptic exon in intron 2 of the human dystrophin gene evolved from an intron by acquiring consensus sequences for splicing at different stages of anthropoid evolution

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12 December 2020

Circular dystrophin RNAs consisting of exons that were skipped by alternative splicing

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12 December 2020

Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patients

1 reference

12 December 2020

Identification of seven novel cryptic exons embedded in the dystrophin gene and characterization of 14 cryptic dystrophin exons

1 reference

12 December 2020

10.1007/S00438-014-0847-Z

Identifiers

DOI

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6 August 2017

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