Associated Papers
Updated global prevalence and ethnic diversity of von Willebrand disease based on population genetics analysis.
Seidizadeh O et al.
Scientific Reports, 2026
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases.
Seidizadeh O et al.
Npj Genomic Medicine, 2023
Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit.
Liu J et al.
Human Mutation, 2021
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
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
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
Structure and function of von Willebrand factor.
Hassan MI et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 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
Recessive von Willebrand disease type 2 Normandy: variable expression of mild hemophilia and VWD type 1.
Michiels JJ et al.
Acta Haematologica, 2009
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
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
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
A novel mutation in the D3 domain of von Willebrand factor markedly decreases its ability to bind factor VIII and affects its multimerization.
Jorieux S et al.
Blood, 1998
Molecular genetics of von Willebrand disease.
Mazurier C et al.
Annales De Genetique, 1998