Associated Papers
Updated global prevalence and ethnic diversity of von Willebrand disease based on population genetics analysis.
Seidizadeh O et al.
Scientific Reports, 2026
Comparison of genotypes and phenotypes for von Willebrand factor gene variants using Japanese genome database.
Akimoto T et al.
Blood Vessels, Thrombosis & Hemostasis, 2025
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
Structural insights into blood coagulation factor VIII: Procoagulant complexes, membrane binding, and antibody inhibition.
Childers KC et al.
Journal of Thrombosis and Haemostasis : Jth, 2022
Phenotypic and Genotypic Characterization of von Willebrand Factor Gene (Exon 18 and 20) in Saudi Healthy Individuals.
Alzahrani FM et al.
Medical Archives (sarajevo, Bosnia and Herzegovina), 2020
Factor VIII binding affects the mechanical unraveling of the A2 domain of von Willebrand factor.
Cao W et al.
Journal of Thrombosis and Haemostasis : Jth, 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
High proportion of patients with bleeding of unknown cause in persons with a mild-to-moderate bleeding tendency: Results from the Vienna Bleeding Biobank (VIBB).
Gebhart J et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018
Mutations in the D'D3 region of VWF traditionally associated with type 1 VWD lead to quantitative and qualitative deficiencies of VWF.
White-Adams TC et al.
Thrombosis Research, 2016
Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project.
Johnsen JM et al.
Blood, 2013
Compromised shear-dependent cleavage of type 2N von Willebrand factor variants by ADAMTS13 in the presence of factor VIII.
Skipwith CG et al.
Thrombosis and Haemostasis, 2013
Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes.
Wang QY et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population.
Bellissimo DB et al.
Blood, 2012
Genetic testing for von Willebrand disease: the case against.
Favaloro EJ
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
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
The molecular biology of von Willebrand disease.
Keeney S et al.
Clinical and Laboratory Haematology, 2001
The defective interaction between von Willebrand factor and factor VIII in a patient with type 1 von Willebrand disease is caused by substitution of Arg19 and His54 in mature von Willebrand factor.
Kroner PA et al.
Blood, 1996
Effects of the mutant von Willebrand factor gene in von Willebrand disease.
Zhang Z et al.
Human Genetics, 1995