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
Integrating Next-Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real-World Data From Spanish Patients.
Borràs N et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025
Clinical utility of panel-based genetic sequencing for von Willebrand disease.
Ramanan R et al.
Research and Practice in Thrombosis and Haemostasis, 2025
Challenges and considerations of genetic testing in von Willebrand disease.
Seidizadeh O et al.
Research and Practice in Thrombosis and Haemostasis, 2025
Genetic variants, thrombocytopenia, and clinical phenotype of type 2B von Willebrand disease: a median 16-year follow-up study.
van Kwawegen CB et al.
Journal of Thrombosis and Haemostasis : Jth, 2024
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
Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.
Seidizadeh O et al.
Blood Advances, 2022
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
Improving diagnosis of von Willebrand disease: Reference ranges for von Willebrand factor multimer distribution.
Vangenechten I et al.
Research and Practice in Thrombosis and Haemostasis, 2020
Genetic Background of von Willebrand Disease: History, Current State, and Future Perspectives.
Zolkova J et al.
Seminars in Thrombosis and Hemostasis, 2020
Analysis of von Willebrand Disease in the South Moravian Population (Czech Republic): Results from the BRNO-VWD Study.
Vangenechten I et al.
Thrombosis and Haemostasis, 2019
A comparative analysis of different automated von Willebrand factor glycoprotein Ib-binding activity assays in well typed von Willebrand disease patients.
Vangenechten I et al.
Journal of Thrombosis and Haemostasis : Jth, 2018
Specific electrostatic interactions between charged amino acid residues regulate binding of von Willebrand factor to blood platelets.
Interlandi G et al.
The Journal of Biological Chemistry, 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
Lupus anticoagulants associated inhibitor against factor IX in a young patient with haemophilia B.
Barnbrock A et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016
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 automated method for measuring von Willebrand factor activity in clinical samples without ristocetin.
Graf L et al.
International Journal of Laboratory Hematology, 2014
An update on type 2B von Willebrand disease.
Mikhail S et al.
Expert Review of Hematology, 2014
Relevance of chloride binding to von Willebrand factor in type 2B von Willebrand disease patients.
Baronciani L et al.
Journal of Thrombosis and Haemostasis : Jth, 2010
Genetic testing for von Willebrand disease: the case against.
Favaloro EJ
Journal of Thrombosis and Haemostasis : Jth, 2010
Altered megakaryocytopoiesis in von Willebrand type 2B disease.
Nurden AT et al.
Journal of Thrombosis and Haemostasis : Jth, 2009
Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients.
Federici AB et al.
Blood, 2009
Dominant von Willebrand disease type 2M and 2U are variable expressions of one distinct disease entity caused by loss-of-function mutations in the A1 domain of the von Willebrand factor gene.
Gadisseur A et al.
Acta Haematologica, 2009
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
von Willebrand factor collagen binding assay with a commercial kit using type III collagen in von Willebrand disease type 2.
Veyradier A et al.
Journal of Thrombosis and Haemostasis : Jth, 2007
von Willebrand factor collagen binding assay in von Willebrand disease type 2A, 2B, and 2M.
Baronciani L et al.
Journal of Thrombosis and Haemostasis : Jth, 2006
Molecular genetics of type 2 von Willebrand disease.
Fressinaud E et al.
International Journal of Hematology, 2002
The arginine-552-cysteine (R1315C) mutation within the A1 loop of von Willebrand factor induces an abnormal folding with a loss of function resulting in type 2A-like phenotype of von Willebrand disease: study of 10 patients and mutated recombinant von Willebrand factor.
Ribba AN et al.
Blood, 2001
Q1311X: a novel nonsense mutation of putative ancient origin in the von Willebrand factor gene.
Casaña P et al.
British Journal of Haematology, 2000
Search for mutations in a segment of the exon 28 of the human von Willebrand factor gene: new mutations, R1315C and R1341W, associated with type 2M and 2B variants.
Casaña P et al.
American Journal of Hematology, 1998
Molecular genetics of von Willebrand disease.
Mazurier C et al.
Annales De Genetique, 1998