Associated Papers
Updated global prevalence and ethnic diversity of von Willebrand disease based on population genetics analysis.
Seidizadeh O et al.
Scientific Reports, 2026
Von Willebrand disease: classification and epidemiology.
Castaman G et al.
Haematologica, 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
Regulation of VWF (Von Willebrand Factor) in Inflammatory Thrombosis.
Manz XD et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2022
Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS.
Baronciani L et al.
Blood Advances, 2021
Comparison of von Willebrand factor platelet-binding activity assays: ELISA overreads type 2B with loss of HMW multimers.
Szederjesi A et al.
Journal of Thrombosis and Haemostasis : Jth, 2020
Genetic Background of von Willebrand Disease: History, Current State, and Future Perspectives.
Zolkova J et al.
Seminars in Thrombosis and Hemostasis, 2020
Cryptic non-canonical splice site activation is part of the mechanism that abolishes multimer organization in the c.2269_2270del von Willebrand factor.
Daidone V et al.
Haematologica, 2020
Characterization of the mutation spectrum in a Pakistani cohort of type 3 von Willebrand disease.
Ahmed S et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019
Alteration in GPIIb/IIIa Binding of VWD-Associated von Willebrand Factor Variants with C-Terminal Missense Mutations.
König G et al.
Thrombosis and Haemostasis, 2019
New insights into the non-hemostatic role of von Willebrand factor in endothelial protection.
Agostini S et al.
Canadian Journal of Physiology and Pharmacology, 2017
Diagnostic Differentiation of von Willebrand Disease Types 1 and 2 by von Willebrand Factor Multimer Analysis and DDAVP Challenge Test.
Michiels JJ et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2017
Type 2B von Willebrand disease with or without large multimers: A distinction of the two sides of the disorder is long overdue.
Casonato A et al.
Plos One, 2017
Diagnostic Value of Measuring Platelet Von Willebrand Factor in Von Willebrand Disease.
Casonato A et al.
Plos One, 2016
Higher and lower active circulating VWF levels: different facets of von Willebrand disease.
Casonato A et al.
British Journal of Haematology, 2015
The p.R1819_C1948delinsS mutation makes von Willebrand factor ADAMTS13-resistant and reduces its collagen-binding capacity.
Daidone V et al.
British Journal of Haematology, 2015
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
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
C2362F mutation gives rise to an ADAMTS13-resistant von Willebrand factor.
Casonato A et al.
Thrombosis and Haemostasis, 2013
The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles.
Bowman M 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
C1272F: a novel type 2A von Willebrand's disease mutation in A1 domain; its clinical significance.
Woods AI et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012
Advances in the diagnosis and management of type 1 von Willebrand disease.
Castaman G et al.
Expert Review of Hematology, 2011
Alterations of mRNA processing and stability as a pathogenic mechanism in von Willebrand factor quantitative deficiencies.
Castaman G et al.
Journal of Thrombosis and Haemostasis : Jth, 2010
Blood group significantly influences von Willebrand factor increase and half-life after desmopressin in von Willebrand disease Vicenza.
Castaman G et al.
Journal of Thrombosis and Haemostasis : Jth, 2010
Pregnancy and delivery in women with von Willebrand's disease and different von Willebrand factor mutations.
Castaman G et al.
Haematologica, 2010
Type 1 von Willebrand disease due to reduced von Willebrand factor synthesis and/or survival: observations from a case series.
Casonato A et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2010
Expression of 14 von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM-1VWD study.
Eikenboom J et al.
Journal of Thrombosis and Haemostasis : Jth, 2009
Laboratory testing for von Willebrand disease: toward a mechanism-based classification.
Torres R et al.
Clinics in Laboratory Medicine, 2009
Laboratory diagnosis and molecular classification of von Willebrand disease.
Gadisseur A et al.
Acta Haematologica, 2009
Autosomal recessive von Willebrand disease type 1 or 2 due to homozygous or compound heterozygous mutations in the von Willebrand factor gene. A single center experience on molecular heterogeneity and laboratory features in 12 families.
Castaman G et al.
Acta Haematologica, 2009
Laboratory diagnosis of von Willebrand disease type 1/2E (2A subtype IIE), type 1 Vicenza and mild type 1 caused by mutations in the D3, D4, B1-B3 and C1-C2 domains of the von Willebrand factor gene. Role of von Willebrand factor multimers and the von Willebrand factor propeptide/antigen ratio.
Gadisseur A et al.
Acta Haematologica, 2009
Von Willebrand factor propeptide makes it easy to identify the shorter Von Willebrand factor survival in patients with type 1 and type Vicenza von Willebrand disease.
Sztukowska M et al.
British Journal of Haematology, 2008
Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM-1VWD).
Budde U et al.
Journal of Thrombosis and Haemostasis : Jth, 2008
The use of desmopressin in von Willebrand disease: the experience of the first 30 years (1977-2007).
Federici AB
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008
A novel von Willebrand factor mutation (I1372S) associated with type 2B-like von Willebrand disease: an elusive phenotype and a difficult diagnosis.
Casonato A et al.
Thrombosis and Haemostasis, 2007
Autosomal recessive von Willebrand disease associated with compound heterozygosity for a novel nonsense mutation (2908 del C) and the missense mutation C2362F: definite evidence for the non-penetrance of the C2362F mutation.
Castaman G et al.
American Journal of Hematology, 2007
Altered von Willebrand factor subunit proteolysis and multimer processing associated with the Cys2362Phe mutation in the B2 domain.
Casonato A et al.
Thrombosis and Haemostasis, 2007
Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD).
Goodeve A et al.
Blood, 2007
Characterization of recessive severe type 1 and 3 von Willebrand Disease (VWD), asymptomatic heterozygous carriers versus bloodgroup O-related von Willebrand factor deficiency, and dominant type 1 VWD.
Michiels JJ et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2006
Homozygous C2362F von Willebrand factor induces intracellular retention of mutant von Willebrand factor resulting in autosomal recessive severe von Willebrand disease.
Tjernberg P et al.
British Journal of Haematology, 2006
von Willebrand disease--the relevance of history.
Montgomery RR
Journal of Thrombosis and Haemostasis : Jth, 2005
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
ABO blood group also influences the von Willebrand factor (VWF) antigen level in heterozygous carriers of VWF null alleles, type 2N mutation Arg854GIn, and the missense mutation Cys2362Phe.
Castaman G et al.
Blood, 2002
A novel family with recessive von Willebrand disease due to compound heterozygosity for a splice site mutation and a missense mutation in the von Willebrand factor gene.
Castaman G et al.
Thrombosis Research, 2002
Heightened proteolysis of the von Willebrand factor subunit in patients with von Willebrand disease hemizygous or homozygous for the C2362F mutation.
Castaman G et al.
British Journal of Haematology, 2000