Associated Papers
Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure.
Mora-Ayestarán N et al.
European Heart Journal, 2025
Decoding splicing complexity: integrated genomic analysis reveals two novel pathogenic variants in Chinese dystrophinopathy pedigrees.
Liu Y et al.
Genes & Genomics, 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
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
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder, Schizophrenia, and Autism Spectrum Disorder.
Kushima I et al.
Biological Psychiatry, 2022
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
A novel DMD intronic alteration: a potentially disease-causing variant of an intermediate muscular dystrophy phenotype.
Santin R et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2021
Small mutations in Duchenne/Becker muscular dystrophy in 164 unrelated Polish patients.
Zimowski JG et al.
Journal of Applied Genetics, 2021
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
Next-Generation Sequencing in a Cohort of Asian Indian Patients with the Duchenne Muscular Dystrophy Phenotype: Diagnostic Yield and Mutation Spectrum.
Nerakh G et al.
Journal of Pediatric Genetics, 2021
Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study.
Yun U et al.
Plos One, 2021
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis.
Magri F et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2020
Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.
Tsang MHY et al.
Molecular Genetics & Genomic Medicine, 2020
[Three novel splicing mutations at 5' terminal of DMD gene corresponding to different phenotypes].
Wang Z et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019
Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy.
Tomar S et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019
Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies.
Wang L et al.
Frontiers in Genetics, 2019
A retrospective analysis of 237 Chinese families with Duchenne muscular dystrophy history and strategies of prenatal diagnosis.
Xu Y et al.
Journal of Clinical Laboratory Analysis, 2018
A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes.
Zenagui R et al.
The Journal of Molecular Diagnostics : Jmd, 2018
Genetic analysis of the dystrophin gene in children with Duchenne and Becker muscular dystrophies.
Zhong J et al.
Muscle & Nerve, 2017
Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies.
Alame M et al.
The Journal of Molecular Diagnostics : Jmd, 2016
DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations.
Juan-Mateu J et al.
Plos One, 2015
New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy.
Santos R et al.
Journal of Human Genetics, 2014
Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients.
Chen C et al.
Plos One, 2014
Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.
Qiao Y et al.
Clinical Genetics, 2013
Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.
Juan-Mateu J et al.
Plos One, 2013
[Relationship between gene mutations and intelligence in children with Duchenne muscular dystrophy].
Wang LB et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2011
Clinical and genetic characterization of manifesting carriers of DMD mutations.
Soltanzadeh P et al.
Neuromuscular Disorders : Nmd, 2010
Becker muscular dystrophy caused by an intronic mutation reducing the efficiency of the splice donor site of intron 26 of the dystrophin gene.
Baskin B et al.
Neuromuscular Disorders : Nmd, 2009
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.
Deburgrave N et al.
Human Mutation, 2007
[Analysis of short tandem repeat polymorphism in a female patient with Duchenne muscular dystrophy].
Huang W et al.
Di 1 Jun Yi Da Xue Xue Bao = Academic Journal of the First Medical College of Pla, 2003
Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases.
Vieitez I et al.
Neurologia (barcelona, Spain), 0