Associated Papers
Genetic determinants of clinical variability in type 2 von Willebrand disease: bridging genotype and phenotype.
Seidizadeh O et al.
Haematologica, 2026
Landscape and Spectrum of VWF Variants in Type 2 Von Willebrand Disease: Insights from a German Patient Cohort.
Yadegari H et al.
Thrombosis and Haemostasis, 2026
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-specific defects and proteomic signatures in endothelial colony-forming cells.
Laan SNJ et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
Clinical phenotype and pathophysiological mechanisms underlying qualitative low VWF.
Atiq F et al.
Blood, 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
Severe Thrombocytopenia in the Post-surgical Context and Administration of Factor VIIII (FVIII)/von Willebrand Factor (VWF) Concentrate in a Patient With von Willebrand Disease Type 2M.
Baptista D et al.
Cureus, 2025
Genetic variations of type 2 and type 3 von Willebrand diseases in Thailand.
Lauhasurayotin S et al.
Journal of Clinical Pathology, 2024
Application of genetic testing for the diagnosis of von Willebrand disease.
Seidizadeh O et al.
Journal of Thrombosis and Haemostasis : Jth, 2024
Type 2M/2A von Willebrand disease: a shared phenotype between type 2M and 2A.
Seidizadeh O et al.
Blood Advances, 2024
Clinical relevance of genetic variants in the von Willebrand factor according to in-silico methods.
Woods AI et al.
American Journal of Medical Genetics. Part A, 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
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
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Desmopressin response depends on the presence and type of genetic variants in patients with type 1 and type 2 von Willebrand disease.
Atiq F et al.
Blood Advances, 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
Von Willebrand disease type 2M: Correlation between genotype and phenotype.
Maas DPMSM et al.
Journal of Thrombosis and Haemostasis : Jth, 2022
Type 2A and 2M von Willebrand Disease: Differences in Phenotypic Parameters According to the Affected Domain by Disease-Causing Variants and Assessment of Pathophysiological Mechanisms.
Woods AI et al.
Seminars in Thrombosis and Hemostasis, 2021
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
Laboratory variability in the diagnosis of type 2 VWD variants.
DiGiandomenico S et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
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
Investigating the clearance of VWF A-domains using site-directed PEGylation and novel N-linked glycosylation.
Fazavana J et al.
Journal of Thrombosis and Haemostasis : Jth, 2020
Molecular and clinical profile of type 2 von Willebrand disease in Iran: a thirteen-year experience.
Rassoulzadegan M et al.
International Journal of Hematology, 2020
The Current Understanding of Molecular Pathogenesis of Quantitative von Willebrand Disease, Types 1 and 3.
Yadegari H et al.
Hamostaseologie, 2020
Update on Molecular Testing in von Willebrand Disease.
Batlle J et al.
Seminars in Thrombosis and Hemostasis, 2019
Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA.
Borràs N et al.
Haematologica, 2019
Genetic variants of VWF gene in type 2 von Willebrand disease.
Freitas SDS et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019
Targeted re-sequencing of F8, F9 and VWF: Characterization of Ion Torrent data and clinical implications for mutation screening.
Manderstedt E et al.
Plos One, 2019
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
The elusive and heterogeneous pattern of type 2M von Willebrand disease: A diagnostic challenge.
Casonato A et al.
European Journal of Haematology, 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
Combined effects of two mutations in von Willebrand disease 2M phenotype.
Woods AI et al.
Research and Practice in Thrombosis and Haemostasis, 2018
Genetic Variation in the von Willebrand Factor Gene in Swedish von Willebrand Disease Patients.
Manderstedt E et al.
Th Open : Companion Journal to Thrombosis and Haemostasis, 2018
Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project.
Pérez-Rodríguez A et al.
Plos One, 2018
Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.
Borràs N et al.
Haematologica, 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
Clinical and laboratory phenotype variability in type 2M von Willebrand disease.
Doruelo AL et al.
Journal of Thrombosis and Haemostasis : Jth, 2017
Diagnosing von Willebrand disease: genetic analysis.
Goodeve A
Hematology. American Society of Hematology. Education Program, 2016
Variable bleeding phenotype in an Amish pedigree with von Willebrand disease.
Gupta S et al.
American Journal of Hematology, 2016