Associated Papers
Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients.
Ozkalayci H et al.
Neurogenetics, 2024
Uncovering the true features of dystrophin gene rearrangement and improving the molecular diagnosis of Duchenne and Becker muscular dystrophies.
Ling C et al.
Iscience, 2023
38047063 (PubMed )
Supplement: mmc3.xlsx › Sheet1
Genetic identification of pathogenic variations of the DMD gene: a retrospective study from 10,481 neonatal patients based on next-generation sequencing data.
Xiao T et al.
Annals of Translational Medicine, 2021
Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies.
Ling C et al.
Human Mutation, 2020
31705731 (PubMed )
Supplement: HUMU-41-668-s002.xlsx › Sheet1
Muscular and cardiac manifestations in a Duchenne-carrier harboring a dystrophin deletion of exons 12-29.
Finsterer J et al.
Intractable & Rare Diseases Research, 2018
MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India.
Deepha S et al.
Bmc Medical Genetics, 2017
28610567 (PubMed )
Supplement: 12881_2017_431_MOESM1_ESM.xlsx › Sheet1
Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.
Okubo M et al.
Journal of Human Genetics, 2016
Analysis of dystrophin gene in Iranian Duchenne and Becker muscular dystrophies patients and identification of a novel mutation.
Zamani GR et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015
Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene.
Ishmukhametova A et al.
European Journal of Human Genetics : Ejhg, 2012
Novel mutations of dystrophin gene in DMD patients detected by rapid scanning in biplex exons DHPLC analysis.
Muscarella LA et al.
Biomolecular Engineering, 2007
Multiplex ligation-dependent probe amplification identification of deletions and duplications of the Duchenne muscular dystrophy gene in Taiwanese subjects.
Hwa HL et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2007
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