Associated Papers
The severe von Willebrand disease variant p.M771V leads to impaired anterograde trafficking of von Willebrand factor in patient-derived and base-edited endothelial colony-forming cells.
Bär I et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
Application of genetic testing for the diagnosis of von Willebrand disease.
Seidizadeh O et al.
Journal of Thrombosis and Haemostasis : Jth, 2024
Assembly of von Willebrand factor tubules with in vivo helical parameters requires A1 domain insertion.
Javitt G et al.
Blood, 2022
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
Phage display broadly identifies inhibitor-reactive regions in von Willebrand factor.
Yee A et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Von Willebrand disease type 2N: An update.
Seidizadeh O et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Genetic Background of von Willebrand Disease: History, Current State, and Future Perspectives.
Zolkova J et al.
Seminars in Thrombosis and Hemostasis, 2020
Molecular and clinical profile of type 2 von Willebrand disease in Iran: a thirteen-year experience.
Rassoulzadegan M et al.
International Journal of Hematology, 2020
Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.
Borràs N et al.
Haematologica, 2017
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
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
Visualization of an N-terminal fragment of von Willebrand factor in complex with factor VIII.
Yee A et al.
Blood, 2015
Weibel-Palade bodies: a window to von Willebrand disease.
Valentijn KM et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
The molecular genetics of von Willebrand disease.
Berber E
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2012
Compound heterozygosity or heterozygosity with two mutations in cis on the same allele? A rebuttal to the letter to the Editors: Koessler et al. Von Willebrand disease caused by compound heterozygosity for p.R854Q and p.R760C: diagnostic and therapeutic implications. Haemophilia 2011; 17: e240-2.
Veyradier A et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2011
Von Willebrand disease caused by compound heterozygosity for p.r854q and p.r760c: diagnostic and therapeutic implications.
Koessler J et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2011
A novel alanine or threonine 789 to proline mutation causing type 2N von Willebrand's disease when inherited homozygously or heterozygously with arginine 854 to glutamine mutation.
Enayat MS et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2010
Genetic testing for von Willebrand disease: the case against.
Favaloro EJ
Journal of Thrombosis and Haemostasis : Jth, 2010
Intracellular cotrafficking of factor VIII and von Willebrand factor type 2N variants to storage organelles.
van den Biggelaar M et al.
Blood, 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
Type 2N von Willebrand disease due to compound heterozygosity for R854Q and a novel R763G mutation at the cleavage site of von Willebrand factor propeptide.
Hilbert L et al.
Thrombosis and Haemostasis, 2006
An Arg760Cys mutation in the consensus sequence of the von Willebrand factor propeptide cleavage site is responsible for a new von Willebrand disease variant.
Casonato A et al.
Blood, 2003