Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor (Q33998293)

30 July 2017

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Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor (English)

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30 July 2017

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D Meyer

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J. Evan Sadler

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J E Sadler

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U Budde

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J C J Eikenboom

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E J Favaloro

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F G H Hill

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L Holmberg

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J Ingerslev

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C A Lee

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D Lillicrap

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P M Mannucci

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C Mazurier

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D Meyer

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W L Nichols

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M Nishino

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I R Peake

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F Rodeghiero

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R Schneppenheim

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Z M Ruggeri

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A Srivastava

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R R Montgomery

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A B Federici

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Working Party on von Willebrand Disease Classification

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2 August 2006

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Journal of Thrombosis and Haemostasis

30 July 2017

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4

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2103-2114

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Biochemistry and genetics of von Willebrand factor

30 July 2017

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Pharmacokinetics, efficacy and safety of Humate-P in von Willebrand disease

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An experimental model to study the in vivo survival of von Willebrand factor. Basic aspects and application to the R1205H mutation.

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Mvwf, a dominant modifier of murine von Willebrand factor, results from altered lineage-specific expression of a glycosyltransferase

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Genetic linkage and association analysis in type 1 von Willebrand disease: results from the Canadian type 1 VWD study

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Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: a possible general mechanism for dominant mutations of oligomeric proteins

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Dimerization and multimerization defects of von Willebrand factor due to mutated cysteine residues

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Cysteine-mutations in von Willebrand factor associated with increased clearance

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The regulation of platelet-dense granules by Rab27a in the ashen mouse, a model of Hermansky-Pudlak and Griscelli syndromes, is granule-specific and dependent on genetic background

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Increased clearance of von Willebrand factor antigen post-DDAVP in Type 1 von Willebrand disease: is it a potential pathogenic process?

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Reduced von Willebrand factor survival in type Vicenza von Willebrand disease

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Founder von Willebrand factor haplotype associated with type 1 von Willebrand disease

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An amino acid polymorphism in von Willebrand factor correlates with increased susceptibility to proteolysis by ADAMTS13

21 January 2018

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The prevalence of the cysteine1584 variant of von Willebrand factor is increased in type 1 von Willebrand disease: co-segregation with increased susceptibility to ADAMTS13 proteolysis but not clinical phenotype.

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Appropriate laboratory assessment as a critical facet in the proper diagnosis and classification of von Willebrand disorder

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Defective dimerization of von Willebrand factor subunits due to a Cys-> Arg mutation in type IID von Willebrand disease

21 January 2018

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A molecular approach to the classification of von Willebrand disease

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Identification of a cleavage site directing the immunochemical detection of molecular abnormalities in type IIA von Willebrand factor

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Type 2 von Willebrand disease causing defective von Willebrand factor-dependent platelet function

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Structures of glycoprotein Ibalpha and its complex with von Willebrand factor A1 domain

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Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease

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Identification and functional characterization of a novel 27-bp deletion in the macroglycopeptide-coding region of the GPIBA gene resulting in platelet-type von Willebrand disease

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von Willebrand disease type B: a missense mutation selectively abolishes ristocetin-induced von Willebrand factor binding to platelet glycoprotein Ib

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Type 2N von Willebrand disease: clinical manifestations, pathophysiology, laboratory diagnosis and molecular biology

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First identification and expression of a type 2N von Willebrand disease mutation (E1078K) located in exon 25 of von Willebrand factor gene

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Biologic response to desmopressin in patients with severe type 1 and type 2 von Willebrand disease: results of a multicenter European study

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Genetic heterogeneity of severe von Willebrand disease type III in the German population

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Congenital von Willebrand disease type 3: clinical manifestations, pathophysiology and molecular biology

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Molecular defects in type 3 von Willebrand disease: updated results from 40 multiethnic patients

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Laboratory diagnosis of congenital von Willebrand disease

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von Willebrand disease: laboratory aspects of diagnosis and treatment

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The diagnosis of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors' Organization.

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Genetic determinants of hemostasis phenotypes in Spanish families.

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Heritability of plasma concentrations of clotting factors and measures of a prethrombotic state in a protein C-deficient family.

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Von Willebrand disease type 1: a diagnosis in search of a disease

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Desmopressin (DDAVP) Responsiveness in Children With von Willebrand Disease

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Treatment of von Willebrand's Disease

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The discriminant power of bleeding history for the diagnosis of type 1 von Willebrand disease: an international, multicenter study.

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Significant linkage and non-linkage of type 1 von Willebrand disease to the von Willebrand factor gene

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10.1111/J.1538-7836.2006.02146.X

21 January 2018

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30 July 2017

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