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
The epitope of the antibody used in the REAADS VWF activity assay is quaternary.
Tischer A et al.
Thrombosis Journal, 2025
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
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
Next-generation sequencing of von Willebrand factor and coagulation factor VIII genes: a cross-sectional study in Croatian adult patients diagnosed with von Willebrand disease.
Lapić I et al.
Croatian Medical Journal, 2022
The dominant p.Thr274Pro mutation in the von Willebrand factor propeptide causes the von Willebrand disease type 1 phenotype in two unrelated patients.
Pagliari MT et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2022
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Activation of von Willebrand factor via mechanical unfolding of its discontinuous autoinhibitory module.
Arce NA et al.
Nature Communications, 2021
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
Evidence for the Misfolding of the A1 Domain within Multimeric von Willebrand Factor in Type 2 von Willebrand Disease.
Tischer A et al.
Journal of Molecular Biology, 2020
Evaluation of a semi-automated von Willebrand factor multimer assay, the Hydragel 5 von Willebrand multimer, by two European Centers.
Bowyer AE et al.
Research and Practice in Thrombosis and Haemostasis, 2018
Comparison of an automated chemiluminescent assay to a manual ELISA assay for determination of von Willebrand Factor collagen binding activity on VWD plasma patients previously diagnosed through molecular analysis of VWF.
Jousselme E et al.
International Journal of Laboratory Hematology, 2018
Differential diagnosis of neonatal alloimmune thrombocytopenia: Type 2B von Willebrand disease.
Penel-Page M et al.
Platelets, 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
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
Type 2M and Type 2A von Willebrand Disease: Similar but Different.
Favaloro EJ et al.
Seminars in Thrombosis and Hemostasis, 2016
A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture.
Veyradier A et al.
Medicine, 2016
The co-influence of VWD type 2B/2M mutations in the A1 domain and platelet GPIbα on the rate of cleavage to VWF by ADAMTS13.
Ma Z et al.
Thrombosis Research, 2015
Angiogenic characteristics of blood outgrowth endothelial cells from patients with von Willebrand disease.
Groeneveld DJ et al.
Journal of Thrombosis and Haemostasis : Jth, 2015
Structural origins of misfolding propensity in the platelet adhesive von Willebrand factor A1 domain.
Zimmermann MT et al.
Biophysical Journal, 2015
Misfolding of vWF to pathologically disordered conformations impacts the severity of von Willebrand disease.
Tischer A et al.
Biophysical Journal, 2014
An update on type 2B von Willebrand disease.
Mikhail S et al.
Expert Review of Hematology, 2014
Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.
Hampshire DJ et al.
Thrombosis and Haemostasis, 2013
[Epidural labor analgesia and parturient with type 2B von Willebrand disease].
Lagarrigue J et al.
Annales Francaises D'anesthesie Et De Reanimation, 2013
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
Laboratory testing for von Willebrand disease: toward a mechanism-based classification.
Torres R et al.
Clinics in Laboratory Medicine, 2009
The Montreal platelet syndrome kindred has type 2B von Willebrand disease with the VWF V1316M mutation.
Jackson SC et al.
Blood, 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
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
Impaired megakaryocytopoiesis in type 2B von Willebrand disease with severe thrombocytopenia.
Nurden P et al.
Blood, 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
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
Molecular genetics of type 2 von Willebrand disease.
Fressinaud E et al.
International Journal of Hematology, 2002
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 modeling of ligand and mutation sites of the type A domains of human von Willebrand factor and their relevance to von Willebrand's disease.
Jenkins PV et al.
Blood, 1998
Molecular genetics of von Willebrand disease.
Mazurier C et al.
Annales De Genetique, 1998