Associated Papers
A novel p.C1130S mutation in a Finnish family with a complex phenotype of von Willebrand disease.
Calcoen B et al.
Haematologica, 2026
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
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
Analysis of von Willebrand Disease in the "Heart of Europe".
Vangenechten I et al.
Th Open : Companion Journal to Thrombosis and Haemostasis, 2022
Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS.
Baronciani L et al.
Blood Advances, 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 Current Understanding of Molecular Pathogenesis of Quantitative von Willebrand Disease, Types 1 and 3.
Yadegari H et al.
Hamostaseologie, 2020
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
New insights into genotype and phenotype of VWD.
Flood VH
Hematology. American Society of Hematology. Education Program, 2014
Genetic heterogeneity in a large cohort of Indian type 3 von Willebrand disease patients.
Kasatkar P et al.
Plos One, 2014
New development in von Willebrand disease.
Castaman G
Current Opinion in Hematology, 2013
Insights into pathological mechanisms of missense mutations in C-terminal domains of von Willebrand factor causing qualitative or quantitative von Willebrand disease.
Yadegari H et al.
Haematologica, 2013
Weibel-Palade bodies: a window to von Willebrand disease.
Valentijn KM et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
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
Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storage.
Jacobi PM et al.
Blood, 2012
Reduced von Willebrand factor secretion is associated with loss of Weibel-Palade body formation.
Castaman G et al.
Journal of Thrombosis and Haemostasis : Jth, 2012
Different bleeding risk in type 2A and 2M von Willebrand disease: a 2-year prospective study in 107 patients.
Castaman G et al.
Journal of Thrombosis and Haemostasis : Jth, 2012
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
Intracellular storage and regulated secretion of von Willebrand factor in quantitative von Willebrand disease.
Wang JW et al.
The Journal of Biological Chemistry, 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
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
Type 2N von Willebrand disease mutations in Brazilian individuals.
Simon D et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2004
Molecular genetics of type 2 von Willebrand disease.
Fressinaud E et al.
International Journal of Hematology, 2002
Diagnosis and incidence of inherited von Willebrand disease.
Hambleton J
Current Opinion in Hematology, 2001
The molecular biology of von Willebrand disease.
Keeney S et al.
Clinical and Laboratory Haematology, 2001
Type 2N von Willebrand disease: rapid genetic diagnosis of G2811A (R854Q), C2696T (R816W), T2701A (H817Q) and G2823T (C858F)--detection of a novel candidate type 2N mutation: C2810T (R854W).
Bowen DJ et al.
Thrombosis and Haemostasis, 1998
Molecular genetics of von Willebrand disease.
Mazurier C et al.
Annales De Genetique, 1998