Associated Papers
Genetic determinants of clinical variability in type 2 von Willebrand disease: bridging genotype and phenotype.
Seidizadeh O et al.
Haematologica, 2026
Updated global prevalence and ethnic diversity of von Willebrand disease based on population genetics analysis.
Seidizadeh O et al.
Scientific Reports, 2026
41559284 (PubMed )
Supplement: 41598_2026_36145_MOESM1_ESM.pdf
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.4
Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases.
Seidizadeh O et al.
Npj Genomic Medicine, 2023
37845247 (PubMed )
Supplement: 41525_2023_375_MOESM1_ESM.pdf
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
35192687 (PubMed )
Supplement: advancesADV2021005431C-suppl1.pdf
Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.
Pagliari MT et al.
Plos One, 2021
34662354 (PubMed )
Supplement: pone.0258675.s002.pdf
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
The Von Willebrand Factor A1-Collagen III Interaction Is Independent of Conformation and Type 2 Von Willebrand Disease Phenotype.
Machha VR et al.
Journal of Molecular Biology, 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
Evaluation of an heterogeneous group of patients with von Willebrand disease using an assay alternative to ristocetin induced platelet agglutination.
Stufano F et al.
Journal of Thrombosis and Haemostasis : Jth, 2015
An update on type 2B von Willebrand disease.
Mikhail S et al.
Expert Review of Hematology, 2014
Functional analysis of three recombinant A1-VWF domain mutants in comparison to wild type and plasma-derived VWF facilitates subtyping in type 2 von Willebrand disease.
Chegeni R et al.
Thrombosis Research, 2011
Reduced survival of type 2B von Willebrand factor, irrespective of large multimer representation or thrombocytopenia.
Casonato A et al.
Haematologica, 2010
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
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