Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosisIn frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndromeFamilial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis SocietyMutations in PCSK9 cause autosomal dominant hypercholesterolemiaMolecular genetics of Marfan syndromeMutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyriaIn vivo evidence that furin from hepatocytes inactivates PCSK9Exome sequencing in suspected monogenic dyslipidemias.In vivo corneal confocal microscopy in marfan syndrome.Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening conditionMisdiagnosed normal fetus owing to undetected germinal mosaicism for DMD deletion.A linkage map of 10 loci flanking the Marfan syndrome locus on 15q: results of an International Consortium study.TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertionR3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia.Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society.C8orf13-BLK is a genetic risk locus for systemic sclerosis and has additive effects with BANK1: results from a large french cohort and meta-analysis.Apolipoprotein B100 metabolism in autosomal-dominant hypercholesterolemia related to mutations in PCSK9.Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 geneA fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1.Heterozygous TGFBR2 mutations in Marfan syndromeNARC-1/PCSK9 and its natural mutants: zymogen cleavage and effects on the low density lipoprotein (LDL) receptor and LDL cholesterol.Living the PCSK9 adventure: from the identification of a new gene in familial hypercholesterolemia towards a potential new class of anticholesterol drugs.Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia.[After the LDL receptor and apolipoprotein B, autosomal dominant hypercholesterolemia reveals its third protagonist: PCSK9].MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissectionsThe UMD-LDLR database: additions to the software and 490 new entries to the database.MAT2A mutations predispose individuals to thoracic aortic aneurysmsMarfan syndrome in the third Millennium.Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.Molecular spectrum of autosomal dominant hypercholesterolemia in France.Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genesUpdate of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.Design and rationale of a prospective, collaborative meta-analysis of all randomized controlled trials of angiotensin receptor antagonists in Marfan syndrome, based on individual patient data: A report from the Marfan Treatment Trialists' CollaboratHeterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international studyFamilial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment.A second locus for Marfan syndrome maps to chromosome 3p24.2-p25.Association study of ITGAM, ITGAX, and CD58 autoimmune risk loci in systemic sclerosis: results from 2 large European Caucasian cohortsAortic Disease Presentation and Outcome Associated With ACTA2 Mutations.
P50
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P50
description
Frans onderzoekster
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hulumtuese
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investigadora francesa
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pharmacienne-biologiste française
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researcher
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ricercatrice
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հետազոտող
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name
Catherine Boileau
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Catherine Boileau
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Catherine Boileau
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Catherine Boileau
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Catherine Boileau
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Catherine Boileau
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Catherine Boileau
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type
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Catherine Boileau
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Catherine Boileau
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Catherine Boileau
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Catherine Boileau
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Catherine Boileau
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Catherine Boileau
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Catherine Boileau
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prefLabel
Catherine Boileau
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Catherine Boileau
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Catherine Boileau
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Catherine Boileau
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Catherine Boileau
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Catherine Boileau
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Catherine Boileau
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P214
P269
P4285
P1053
M-4482-2017
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