Associated Papers
DMD mutations in pediatric patients with phenotypes of Duchenne/Becker muscular dystrophy.
Ge L et al.
Open Medicine (warsaw, Poland), 2024
39588385 (PubMed )
Supplement: med-2024-0916-sm3.xls › Attached_file_1-gnomAD_v2.1.1_E
Molecular Diagnosis of Duchenne Muscular Dystrophy Using Single NGS-Based Assay.
Nallamilli BRR et al.
Current Protocols, 2023
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S2
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
Combining Protein Expression and Molecular Data Improves Mutation Characterization of Dystrophinopathies.
Gaina G et al.
Frontiers in Neurology, 2021
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
Reddy HM et al.
Journal of Human Genetics, 2017
Single amino acid loss in the dystrophin protein associated with a mild clinical phenotype.
Pons R et al.
Muscle & Nerve, 2017
Evaluation of point mutations in dystrophin gene in Iranian Duchenne and Becker muscular dystrophy patients: introducing three novel variants.
Haghshenas M et al.
Journal of Genetics, 2016
Next-generation DNA sequencing of a Swedish malignant hyperthermia cohort.
Broman M et al.
Clinical Genetics, 2015
Molecular diagnosis of Duchenne muscular dystrophy.
Nallamilli BR et al.
Current Protocols in Human Genetics, 2014
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis.
Almomani R et al.
Neuromuscular Disorders : Nmd, 2009
Digital karyotyping reveals frequent inactivation of the dystrophin/DMD gene in malignant melanoma.
Körner H et al.
Cell Cycle (georgetown, Tex.), 2007
DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients.
Hofstra RM et al.
Human Mutation, 2004
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