Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. - Wikidata - wikimedia - TriplyDB

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.

http://www.wikidata.org/entity/Q36116293

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Interventions to prevent steroid-induced osteoporosis and osteoporotic fractures in Duchenne muscular dystrophy Dystrophin-deficient large animal models: translational research and exon skipping Dystrophin and the two related genetic diseases, Duchenne and Becker muscular dystrophies Animal models of Duchenne muscular dystrophy: from basic mechanisms to gene therapy 204th ENMC International Workshop on Biomarkers in Duchenne Muscular Dystrophy 24-26 January 2014, Naarden, The Netherlands The Dystrophin Complex: Structure, Function, and Implications for Therapy DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations An intronic LINE-1 element insertion in the dystrophin gene aborts dystrophin expression and results in Duchenne-like muscular dystrophy in the corgi breed Clinical outcome measures for trials in Duchenne muscular dystrophy: report from International Working Group meetings The polyproline site in hinge 2 influences the functional capacity of truncated dystrophins.Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease The golden retriever model of Duchenne muscular dystrophy.Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy.Conserved regions of the DMD 3' UTR regulate translation and mRNA abundance in cultured myotubes The ZZ domain of dystrophin in DMD: making sense of missense mutations.The cooperative international neuromuscular research group Duchenne natural history study--a longitudinal investigation in the era of glucocorticoid therapy: design of protocol and the methods used.Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.A defect in dystrophin causes a novel porcine stress syndrome.One year outcome of boys with Duchenne muscular dystrophy using the Bayley-III scales of infant and toddler development.A phase 1/2a follistatin gene therapy trial for becker muscular dystrophy.Current status of pharmaceutical and genetic therapeutic approaches to treat DMD.Duchenne muscular dystrophy gene therapy: Lost in translation?Whole dystrophin gene analysis by next-generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy.Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45.The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.Modeling and study of the mechanism of dilated cardiomyopathy using induced pluripotent stem cells derived from individuals with Duchenne muscular dystrophy.Novel mini-dystrophin gene dual adeno-associated virus vectors restore neuronal nitric oxide synthase expression at the sarcolemma A simplified immune suppression scheme leads to persistent micro-dystrophin expression in Duchenne muscular dystrophy dogs Age-matched comparison reveals early electrocardiography and echocardiography changes in dystrophin-deficient dogs.Contemporary cardiac issues in Duchenne muscular dystrophy. Working Group of the National Heart, Lung, and Blood Institute in collaboration with Parent Project Muscular Dystrophy.Genome-wide association study to identify potential genetic modifiers in a canine model for Duchenne muscular dystrophy DMDtoolkit: a tool for visualizing the mutated dystrophin protein and predicting the clinical severity in DMD Structural Basis of Neuronal Nitric-oxide Synthase Interaction with Dystrophin Repeats 16 and 17.Left ventricular dysfunction in duchenne muscular dystrophy and genotype.A Streamlined Protocol for Molecular Testing of the DMD Gene within a Diagnostic Laboratory: A Combination of Array Comparative Genomic Hybridization and Bidirectional Sequence Analysis.Microdystrophin ameliorates muscular dystrophy in the canine model of duchenne muscular dystrophy Progress in gene therapy of dystrophic heart disease.Muscle satellite cells from GRMD dystrophic dogs are not phenotypically distinguishable from wild type satellite cells in ex vivo culture.

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Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.

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Mutational spectrum of DMD mut ...... techniques to a large cohort.

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Mutational spectrum of DMD mut ...... techniques to a large cohort.

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Mutational spectrum of DMD mut ...... techniques to a large cohort.

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Carrie M Stephan

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P2860

Initial sequence of the chimpanzee genome and comparison with the human genome

Genome-wide detection and characterization of positive selection in human populations

Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing

Human non-synonymous SNPs: server and survey

Use of mutation spectra analysis software.

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.

Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene.

Rapid direct sequence analysis of the dystrophin gene

Disease-causing mutations in the human genome.

Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule.

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