about
The molecular genetics of Marfan syndrome and related disordersIdentification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 geneHuman Splicing Finder: an online bioinformatics tool to predict splicing signals.Marfan syndrome in the third Millennium.Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international studyClinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches.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.DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene.The revised ghent nosology; reclassifying isolated ectopia lentis.BRCA Share: A Collection of Clinical BRCA Gene Variants.Actionable Genes, Core Databases, and Locus-Specific Databases.New Topoisomerase I mutations are associated with resistance to camptothecinClinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1][Monogenetic dystonia: revisiting the dopaminergic hypothesis].Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains.Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations.Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year.Cardiovascular manifestations in men and women carrying a FBN1 mutation.Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.UMD (Universal Mutation Database): 2005 update.The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia.Long-term follow-up of DYT1 dystonia patients treated by deep brain stimulation: an open-label study.The new Ghent criteria for Marfan syndrome: what do they change?Writing tremor: Should we look for a TOR1A mutation?WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases.Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterionIdentification of 23TGFBR2and 6TGFBR1gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disordersA new locus-specific database (LSDB) for mutations in theTGFBR2gene: UMD-TGFBR2Molecular Genetics of the FibrillinopathiesSingular DYT6 phenotypes in association with new THAP1 frameshift mutationsIs the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?First determination of the incidence of the uniqueTOR1A gene mutation, c.907delGAG, in a Mediterranean population
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hulumtuese
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հետազոտող
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Gwenaëlle Collod-Béroud
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Gwenaëlle Collod-Béroud
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Gwenaëlle Collod-Béroud
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Gwenaëlle Collod-Béroud
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Gwenaëlle Collod-Béroud
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Gwenaëlle Collod-Béroud
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Gwenaëlle Collod-Béroud
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Gwenaëlle Collod-Béroud
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Gwenaëlle Collod-Béroud
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Gwenaëlle Collod-Béroud
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Gwenaelle Collod-Beroud
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Gwenaelle Collod-Beroud
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Gwenaelle Collod-Beroud
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Gwenaelle Collod-Beroud
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Gwenaëlle Collod-Béroud
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Gwenaëlle Collod-Béroud
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Gwenaëlle Collod-Béroud
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Gwenaëlle Collod-Béroud
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Gwenaëlle Collod-Béroud
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