Associated Papers
Spectrum of DMD gene mutations in 507 patients: a retrospective genotype-phenotype study using next-generation sequencing.
Gan S et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2025
Inhibiting EZH2 complements steroid effects in Duchenne muscular dystrophy.
Jeon EY et al.
Science Advances, 2025
A retrospective cohort study and review of the literature about germline mosaicism in Duchenne/Becker muscular dystrophy prenatal counseling: How to estimate the recurrence risk in clinical settings?
Verebi C et al.
Journal of Genetic Counseling, 2025
Genomic insights into Duchene muscular dystrophy: Analysis of 1250 patients reveals 30% novel genetic patterns and 6 novel variants.
Amr K et al.
Journal, Genetic Engineering & Biotechnology, 2024
Comprehensive analysis of 2097 patients with dystrophinopathy based on a database from 2011 to 2021.
Zhao L et al.
Orphanet Journal of Rare Diseases, 2024
Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients.
Ozkalayci H et al.
Neurogenetics, 2024
DMD mutations in pediatric patients with phenotypes of Duchenne/Becker muscular dystrophy.
Ge L et al.
Open Medicine (warsaw, Poland), 2024
Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.
Wu TH et al.
Scientific Reports, 2023
Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.
Yang Q et al.
Journal of the American Heart Association, 2022
2-Guanidino-quinazoline promotes the readthrough of nonsense mutations underlying human genetic diseases.
Bidou L et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Clinical and genetic characteristics of Chinese Duchenne/Becker muscular dystrophy patients with small mutations.
Gan S et al.
Frontiers in Neuroscience, 2022
Comprehensive Molecular Analysis of DMD Gene Increases the Diagnostic Value of Dystrophinopathies: A Pilot Study in a Southern Italy Cohort of Patients.
De Palma FDE et al.
Diagnostics (basel, Switzerland), 2021
Efficient precise in vivo base editing in adult dystrophic mice.
Xu L et al.
Nature Communications, 2021
Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing.
Shastry A et al.
Molecular Genetics & Genomic Medicine, 2021
Comparison of The Carrier Frequency of Pathogenic Variants of DMD Gene in an Indian Cohort.
Nagabushana D et al.
Journal of Neuromuscular Diseases, 2021
Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single center.
Zhang J et al.
Bmc Medical Genetics, 2019
Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing.
Alcántara-Ortigoza MA et al.
Genes, 2019
Targeted sequencing of the DMD locus: A comprehensive diagnostic tool for all mutations.
Aravind S et al.
The Indian Journal of Medical Research, 2019
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.
Cao Y et al.
Genome Medicine, 2019
Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies.
Wang L et al.
Frontiers in Genetics, 2019
Comprehensive genetic characteristics of dystrophinopathies in China.
Ma P et al.
Orphanet Journal of Rare Diseases, 2018
[Analysis of 12 patients with novel mutations of Dystrophin gene].
Xu X et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2017
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.
Okubo M et al.
Orphanet Journal of Rare Diseases, 2017
Pitfalls of Multiple Ligation-Dependent Probe Amplifications in Detecting DMD Exon Deletions or Duplications.
Kim MJ et al.
The Journal of Molecular Diagnostics : Jmd, 2016
DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy.
Guo R et al.
Journal of Human Genetics, 2015
Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia.
Wong TN et al.
Nature, 2015
DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations.
Juan-Mateu J et al.
Plos One, 2015
Association between loss of dp140 and cognitive impairment in duchenne and becker dystrophies.
Chamova T et al.
Balkan Journal of Medical Genetics : Bjmg, 2013
Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.
Juan-Mateu J et al.
Plos One, 2013
Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy.
Finkel RS et al.
Plos One, 2013
Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform.
Lim BC et al.
Journal of Medical Genetics, 2011
One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.
Torella A et al.
The Journal of Molecular Diagnostics : Jmd, 2010
Point mutations in Czech DMD/BMD patients and their phenotypic outcome.
Sedlácková J et al.
Neuromuscular Disorders : Nmd, 2009
Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy.
Cunniff C et al.
Journal of Child Neurology, 2009
MLPA analysis/complete sequencing of the DMD gene in a group of Bulgarian Duchenne/Becker muscular dystrophy patients.
Todorova A et al.
Neuromuscular Disorders : Nmd, 2008
Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene.
Bunyan DJ et al.
Molecular Biotechnology, 2007
Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide.
Buzin CH et al.
Human Mutation, 2005
Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation.
Fajkusová L et al.
Neuromuscular Disorders : Nmd, 2001
Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.
Vieitez I et al.
Neurologia (barcelona, Spain), 0
A symptomatic female patient with duchenne muscular dystrophy gene mutation showing rimmed vacuoles in muscle biopsy.
Ban R et al.
Neurology India, 0
A Symptomatic Female Patient with Duchenne Muscular Dystrophy Gene Mutation Showing Rimmed Vacuole in Muscle Biopsy.
Ban R et al.
Neurology India, 0