Associated Papers
Landscape and Spectrum of VWF Variants in Type 2 Von Willebrand Disease: Insights from a German Patient Cohort.
Yadegari H et al.
Thrombosis and Haemostasis, 2026
Mechano-covalent protection of coagulation factor VIII by von Willebrand factor.
Butera D et al.
Blood Advances, 2023
Laboratory assays of VWF activity and use of desmopressin trials in the diagnosis of VWD: a systematic review and meta-analysis.
Kalot MA et al.
Blood Advances, 2022
The D' domain of von Willebrand factor requires the presence of the D3 domain for optimal factor VIII binding.
Przeradzka MA et al.
The Biochemical Journal, 2018
Abnormal von Willebrand factor secretion, factor VIII stabilization and thrombus dynamics in type 2N von Willebrand disease mice.
Swystun LL et al.
Journal of Thrombosis and Haemostasis : Jth, 2017
Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.
Hampshire DJ et al.
Thrombosis and Haemostasis, 2013
Weibel-Palade bodies: a window to von Willebrand disease.
Valentijn KM et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
Biogenesis of Weibel-Palade bodies in von Willebrand's disease variants with impaired von Willebrand factor intrachain or interchain disulfide bond formation.
Wang JW et al.
Haematologica, 2012
Homozygous type 2N R854W von Willebrand factor is poorly secreted and causes a severe von Willebrand disease phenotype.
Castaman G et al.
Journal of Thrombosis and Haemostasis : Jth, 2010
A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE.
Schneppenheim R et al.
Blood, 2010
Genetic testing for von Willebrand disease: the case against.
Favaloro EJ
Journal of Thrombosis and Haemostasis : Jth, 2010
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 and molecular classification of von Willebrand disease.
Gadisseur A et al.
Acta Haematologica, 2009
Recessive von Willebrand disease type 2 Normandy: variable expression of mild hemophilia and VWD type 1.
Michiels JJ et al.
Acta Haematologica, 2009
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
First identification and expression of a type 2N von Willebrand disease mutation (E1078K) located in exon 25 of von Willebrand factor gene.
Hilbert L et al.
Journal of Thrombosis and Haemostasis : Jth, 2004
Expression of two type 2N von Willebrand disease mutations identified in exon 18 of von Willebrand factor gene.
Hilbert L et al.
British Journal of Haematology, 2004
Analysis of intracellular storage and regulated secretion of 3 von Willebrand disease-causing variants of von Willebrand factor.
Michaux G et al.
Blood, 2003
Two novel mutations, Q1053H and C1060R, located in the D3 domain of von Willebrand factor, are responsible for decreased FVIII-binding capacity.
Hilbert L et al.
British Journal of Haematology, 2003
Molecular genetics of type 2 von Willebrand disease.
Fressinaud E et al.
International Journal of Hematology, 2002
The molecular biology of von Willebrand disease.
Keeney S et al.
Clinical and Laboratory Haematology, 2001
Two novel type 2N von Willebrand disease-causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor.
Allen S et al.
Blood, 2000
Molecular genetics of von Willebrand disease.
Mazurier C et al.
Annales De Genetique, 1998