Associated Papers
Updated global prevalence and ethnic diversity of von Willebrand disease based on population genetics analysis.
Seidizadeh O et al.
Scientific Reports, 2026
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
Von Willebrand disease type 2N: An update.
Seidizadeh O et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
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
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
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
A common ancestor more than 10,000 years old for patients with R854Q-related type 2N von Willebrand's disease in Italy.
Casonato A et al.
Haematologica, 2013
Validation of the first commercial ELISA for type 2N von Willebrand's disease diagnosis.
Veyradier A et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2011
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
Recessive von Willebrand disease type 2 Normandy: variable expression of mild hemophilia and VWD type 1.
Michiels JJ et al.
Acta Haematologica, 2009
Management of inherited von Willebrand disease in 2007.
Federici AB et al.
Annals of Medicine, 2007
Classification and characterization of hereditary types 2A, 2B, 2C, 2D, 2E, 2M, 2N, and 2U (unclassifiable) von Willebrand disease.
Michiels JJ et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2006
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
Von Willebrand's disease in the year 2003: towards the complete identification of gene defects for correct diagnosis and treatment.
Castaman G et al.
Haematologica, 2003
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