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

Next generation sequencing in cancer research and clinical application

(2013) Derek Shyr et al.   BIOLOGICAL PROCEDURES ONLINE

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

(2013) Juan Yang et al.   BMC Medical Genetics

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

(2013) Wan-Jin Chen et al.   CLINICA CHIMICA ACTA

Sensitivity and Frequencies of Dystrophin Gene Mutations in Thai DMD/BMD Patients As Detected by Multiplex PCR

(2013) Thanyachai Sura et al.   DISEASE MARKERS

Improved Detection of Deletions and Duplications in the DMD Gene Using the Multiplex Ligation-Dependent Probe Amplification (MLPA) Method

(2012) Ivona Sansović et al.   BIOCHEMICAL GENETICS

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

(2012) Shuqi Xie et al.   GENE

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

(2011) B. C. Lim et al.   JOURNAL OF MEDICAL GENETICS

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

(2010) Ammar Madania et al.   CLINICAL BIOCHEMISTRY

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

(2010) Yasuhiro Takeshima et al.   JOURNAL OF HUMAN GENETICS

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

(2010) A.T.J.M. Helderman-van den Enden et al.   NEUROMUSCULAR DISORDERS

Empirical Evaluation of Oligonucleotide Probe Selection for DNA Microarrays

(2010) Jennifer G. Mulle et al.   PLoS One

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

(2009) Kevin M. Flanigan et al.   HUMAN MUTATION

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

(2008) Matteo Bovolenta et al.   BMC GENOMICS

Log-PCR: A New Tool for Immediate and Cost-Effective Diagnosis of up to 85% of Dystrophin Gene Mutations

(2008) A. Trimarco et al.   CLINICAL CHEMISTRY

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

(2008) Albena Todorova et al.   NEUROMUSCULAR DISORDERS

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

(2007) Fanyi Zeng et al.   HUMAN MUTATION