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
Probing rare von Willebrand disease-causing mutations in the D4 and C-domains of von Willebrand factor.
Mobayen G et al.
Research and Practice in Thrombosis and Haemostasis, 2025
Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases.
Seidizadeh O et al.
Npj Genomic Medicine, 2023
A comparative study in patients with type 2 von Willebrand disease using 4 different platelet-dependent von Willebrand factor assays.
Colpani P et al.
Research and Practice in Thrombosis and Haemostasis, 2023
Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.
Seidizadeh O et al.
Blood Advances, 2022
Shear Stress Accumulation Enhances von Willebrand Factor-Induced Platelet P-Selectin Translocation in a PI3K/Akt Pathway-Dependent Manner.
Fang J et al.
Frontiers in Cell and Developmental Biology, 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
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
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
von Willebrand disease type 1 mutation p.Arg1379Cys and the variant p.Ala1377Val synergistically determine a 2M phenotype in four Italian patients.
Pagliari MT et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016
First trimester prenatal diagnosis of severe FXIII deficiency.
Shanbhag S et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016
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
Misfolding of vWF to pathologically disordered conformations impacts the severity of von Willebrand disease.
Tischer A et al.
Biophysical Journal, 2014
The type 2B p.R1306W natural mutation of von Willebrand factor dramatically enhances the multimer sensitivity to shear stress.
Scaglione GL et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
Translational medicine advances in von Willebrand disease.
Lillicrap D
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
von Willebrand disease.
James PD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2011
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
Mutation-specific hemostatic variability in mice expressing common type 2B von Willebrand disease substitutions.
Golder M et al.
Blood, 2010
A family having type 2B von Willebrand disease with an R1306W mutation: Severe thrombocytopenia leads to the normalization of high molecular weight multimers.
Ozeki M et al.
Thrombosis Research, 2010
Genotype/phenotype association in von Willebrand disease: is the glass half full or empty?
Lillicrap D
Journal of Thrombosis and Haemostasis : Jth, 2009
Altered megakaryocytopoiesis in von Willebrand type 2B disease.
Nurden AT 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
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
Prevalence of type 2b 'Malmö/New York' von Willebrand disease in Italy: the role of von Willebrand factor gene conversion.
Baronciani L et al.
Journal of Thrombosis and Haemostasis : Jth, 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
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
Biochemical characterization of a recombinant von Willebrand factor (VWF) with combined type 2B and type 1 defects in the VWF gene in two patients with a type 2A phenotype of von Willebrand disease.
Baronciani L et al.
Journal of Thrombosis and Haemostasis : Jth, 2007
von Willebrand factor A1 domain can adequately substitute for A3 domain in recruitment of flowing platelets to collagen.
Bonnefoy A et al.
Journal of Thrombosis and Haemostasis : Jth, 2006
Performance and clinical utility of a commercial von Willebrand factor collagen binding assay for laboratory diagnosis of von Willebrand disease.
Popov J et al.
Clinical Chemistry, 2006
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
2B or not 2B? What is the role of VWF in platelet-matrix interactions? And what is the role of the VWF:CB in VWD diagnostics? These are the questions.
Favaloro EJ
Journal of Thrombosis and Haemostasis : Jth, 2006
Expression studies on a novel type 2B variant of the von Willebrand factor gene (R1308L) characterized by defective collagen binding.
Baronciani L et al.
Journal of Thrombosis and Haemostasis : Jth, 2005