Associated Papers
Challenges and considerations of genetic testing in von Willebrand disease.
Seidizadeh O et al.
Research and Practice in Thrombosis and Haemostasis, 2025
Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.
Seidizadeh O et al.
Blood Advances, 2022
The Manifold Cellular Functions of von Willebrand Factor.
Mojzisch A et al.
Cells, 2021
The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.
Sun J et al.
Genomics, Proteomics & Bioinformatics, 2020
Von Willebrand Disease: From In Vivo to In Vitro Disease Models.
de Boer S et al.
Hemasphere, 2019
Vwf K1362A resulted in failure of protein synthesis in mice.
Sanda N et al.
International Journal of Hematology, 2018
A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture.
Veyradier A et al.
Medicine, 2016
New development in von Willebrand disease.
Castaman G
Current Opinion in Hematology, 2013
Weibel-Palade bodies: a window to von Willebrand disease.
Valentijn KM et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storage.
Jacobi PM et al.
Blood, 2012
Reduced von Willebrand factor secretion is associated with loss of Weibel-Palade body formation.
Castaman G et al.
Journal of Thrombosis and Haemostasis : Jth, 2012
C1272F: a novel type 2A von Willebrand's disease mutation in A1 domain; its clinical significance.
Woods AI et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012
Genetic alteration of the D2 domain abolishes von Willebrand factor multimerization and trafficking into storage.
Haberichter SL et al.
Journal of Thrombosis and Haemostasis : Jth, 2009
Laboratory diagnosis of von Willebrand disease type 1/2E (2A subtype IIE), type 1 Vicenza and mild type 1 caused by mutations in the D3, D4, B1-B3 and C1-C2 domains of the von Willebrand factor gene. Role of von Willebrand factor multimers and the von Willebrand factor propeptide/antigen ratio.
Gadisseur A et al.
Acta Haematologica, 2009
von Willebrand factor collagen binding assay with a commercial kit using type III collagen in von Willebrand disease type 2.
Veyradier A et al.
Journal of Thrombosis and Haemostasis : Jth, 2007
Mutations C1157F and C1234W of von Willebrand factor cause intracellular retention with defective multimerization and secretion.
Hommais A et al.
Journal of Thrombosis and Haemostasis : Jth, 2006