Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. - Wikidata - wikimedia - TriplyDB

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.

http://www.wikidata.org/entity/Q48006442

about

Dystrophin Dp71: the smallest but multifunctional product of the Duchenne muscular dystrophy gene Dystrophin and the two related genetic diseases, Duchenne and Becker muscular dystrophies What can Duchenne Connect teach us about treating Duchenne muscular dystrophy?Animal models of Duchenne muscular dystrophy: from basic mechanisms to gene therapy Online self-report data for duchenne muscular dystrophy confirms natural history and can be used to assess for therapeutic benefits 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 GeneBase 1.1: a tool to summarize data from NCBI gene datasets and its application to an update of human gene statistics.Dispelling myths about rare disease registry system development Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research.Computational study of the human dystrophin repeats: interaction properties and molecular dynamics.Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders.Adenoviral vectors encoding CRISPR/Cas9 multiplexes rescue dystrophin synthesis in unselected populations of DMD muscle cells.Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China Our trails and trials in the subsarcolemmal cytoskeleton network and muscular dystrophy researches in the dystrophin era.MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD.Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.Duchenne muscular dystrophy gene therapy: Lost in translation?Internal deletion compromises the stability of dystrophin FUBP1: a new protagonist in splicing regulation of the DMD gene 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.Age-matched comparison reveals early electrocardiography and echocardiography changes in dystrophin-deficient dogs.Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies.Genome-wide association study to identify potential genetic modifiers in a canine model for Duchenne muscular dystrophy Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene.Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy Structural Basis of Neuronal Nitric-oxide Synthase Interaction with Dystrophin Repeats 16 and 17.The laboratory-clinician team: a professional call to action to improve communication and collaboration for optimal patient care in chromosomal microarray testing Exome sequencing identified null mutations in LOXL3 associated with early-onset high myopia Microdystrophin ameliorates muscular dystrophy in the canine model of duchenne muscular dystrophy Muscle satellite cells from GRMD dystrophic dogs are not phenotypically distinguishable from wild type satellite cells in ex vivo culture.Non-invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage.Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes.Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database

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Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.

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