Experience and strategy for the molecular testing of Duchenne muscular dystrophy.
about
Disease-specific induced pluripotent stem cellsA novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies.The golden retriever model of Duchenne muscular dystrophy.Rational design of antisense oligomers to induce dystrophin exon skipping.MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India.Bowman-Birk inhibitor attenuates dystrophic pathology in mdx mice.Effective noninvasive zygosity determination by maternal plasma target region sequencingQuality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel.The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.Exon deletion pattern in duchene muscular dystrophy in north west of iran.Genetic analysis of dystrophin gene for affected male and female carriers with Duchenne/Becker muscular dystrophy in Korea.Deletion of GPIHBP1 causing severe chylomicronemiaMutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.Targeted exon skipping to address "leaky" mutations in the dystrophin gene.Absence of Dystrophin Disrupts Skeletal Muscle Signaling: Roles of Ca2+, Reactive Oxygen Species, and Nitric Oxide in the Development of Muscular Dystrophy.Left ventricular dysfunction in duchenne muscular dystrophy and genotype.Similarity of DMD gene deletion and duplication in the Chinese patients compared to global populationsNon-invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage.Microarray-based mutation detection in the dystrophin gene.Technology insight: therapy for Duchenne muscular dystrophy-an opportunity for personalized medicine?Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online databaseMolecular-targeted therapy for Duchenne muscular dystrophy: progress and potential.'Double trouble': diagnostic challenges in Duchenne muscular dystrophy in patients with an additional hereditary skeletal dysplasiaMeasurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.Canine models of Duchenne muscular dystrophy and their use in therapeutic strategies.Evaluation of multiplex ligation-dependent probe amplification analysis versus multiplex polymerase chain reaction assays in the detection of dystrophin gene rearrangements in an Iranian population subset.Multiplex Ligation-Dependent Probe Amplification in X-linked Recessive Muscular Dystrophy in Korean Subjects.The paradox of muscle hypertrophy in muscular dystrophy.Concise review: stem cell therapy for muscular dystrophies.Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders.Overview of molecular genetic diagnosis.DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy.Electrical impedance myography for the assessment of children with muscular dystrophy: a preliminary study.De novo mutation in DMD gene in a patient with combined hemophilia A and Duchenne muscular dystrophy.Abnormal carbohydrate metabolism in a canine model for muscular dystrophy.Duane retraction syndrome in a patient with Duchenne muscular dystrophy.Prenatal diagnosis for a Chinese family with a de novo DMD gene mutation: A case report.Preimplantation genetic diagnosis associated to Duchenne muscular dystrophy.CUGC for Duchenne muscular dystrophy (DMD).Genetic analysis of the dystrophin gene in children with Duchenne and Becker muscular dystrophies.
P2860
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P2860
Experience and strategy for the molecular testing of Duchenne muscular dystrophy.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
2005年论文
@zh
2005年论文
@zh-cn
name
Experience and strategy for the molecular testing of Duchenne muscular dystrophy.
@ast
Experience and strategy for the molecular testing of Duchenne muscular dystrophy.
@en
type
label
Experience and strategy for the molecular testing of Duchenne muscular dystrophy.
@ast
Experience and strategy for the molecular testing of Duchenne muscular dystrophy.
@en
prefLabel
Experience and strategy for the molecular testing of Duchenne muscular dystrophy.
@ast
Experience and strategy for the molecular testing of Duchenne muscular dystrophy.
@en
P2860
P1476
Experience and strategy for the molecular testing of Duchenne muscular dystrophy.
@en
P2093
Scott J Bridgeman
Thomas W Prior
P2860
P304
P356
10.1016/S1525-1578(10)60560-0
P577
2005-08-01T00:00:00Z