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
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
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
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
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
[Identification of disease-causing point mutations in DMD patients' dystrophin gene without large deletions/duplications].
Shen BC et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2006
[Prenatal diagnosis of Duchenne muscular dystrophy by fetoscopic muscle biopsy. Report of a case].
Guo Y
Zhonghua Shen Jing Jing Shen Ke Za Zhi = Chinese Journal of Neurology and Psychiatry, 1990
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