about
A mutation in the Gardos channel is associated with hereditary xerocytosisVarioML framework for comprehensive variation data representation and exchangeMutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCCMutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.Diagnostic approach to the congenital muscular dystrophies.The UMD-APC database, a model of nation-wide knowledge base: update with data from 3,581 variations.Dispelling myths about rare disease registry system developmentLocus Reference Genomic sequences: an improved basis for describing human DNA variants.Hydrophobic pulses predict transmembrane helix irregularities and channel transmembrane units.RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research.Assessing TP53 status in human tumours to evaluate clinical outcome.p53 gene mutation: software and database.Software and database for the analysis of mutations in the human WT1 geneMarfan Database (third edition): new mutations and new routines for the software.The UMD-LDLR database: additions to the software and 490 new entries to the database.Human Splicing Finder: an online bioinformatics tool to predict splicing signals.How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.The UMD-p53 database: new mutations and analysis tools.Significance of TP53 mutations in human cancer: a critical analysis of mutations at CpG dinucleotides.108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands.Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases.Enrichment, immunomorphological, and genetic characterization of fetal cells circulating in maternal bloodEffect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international studyIn-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders.UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families.Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutationUMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution.Consensus statement on standard of care for congenital muscular dystrophies.DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene.Bioinformatics and mutations leading to exon skipping.Rare inherited disorders with renal involvement-approach to the patient.The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia.Identification of splicing defects caused by mutations in the dysferlin gene.High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene.Software and database for the analysis of mutations in the human FBN1 gene.Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.
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researcher
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wetenschapper
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հետազոտող
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C Béroud
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C Béroud
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Christophe BEROUD
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P1053
A-8381-2008
P106
P21
P2456
P31
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0000-0003-2986-8738