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
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
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
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
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
Von Willebrand disease type 2M: Correlation between genotype and phenotype: Reply to comment from Dr. Favaloro and to comment from Dr. Woods et al.
Maas DPMSM et al.
Journal of Thrombosis and Haemostasis : Jth, 2022
Von Willebrand disease type 2M: Correlation between genotype and phenotype.
Maas DPMSM et al.
Journal of Thrombosis and Haemostasis : Jth, 2022
Type 2N VWD: Conclusions from the Spanish PCM-EVW-ES project.
Pérez-Rodríguez A et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 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
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
Evaluation of a fully automated von Willebrand factor assay panel for the diagnosis of von Willebrand disease.
Stufano F et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2020
The Current Understanding of Molecular Pathogenesis of Quantitative von Willebrand Disease, Types 1 and 3.
Yadegari H et al.
Hamostaseologie, 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
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
Type-3 von Willebrand disease in India-Clinical spectrum and molecular profile.
Elayaperumal S et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018
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
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
Von Willebrand disease mutation spectrum and associated mutation mechanisms.
de Jong A et al.
Thrombosis Research, 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
Diagnosing von Willebrand disease: genetic analysis.
Goodeve A
Hematology. American Society of Hematology. Education Program, 2016
Genotype-phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGS.
Fidalgo T et al.
Thrombosis and Haemostasis, 2016
Type 2M and Type 2A von Willebrand Disease: Similar but Different.
Favaloro EJ et al.
Seminars in Thrombosis and Hemostasis, 2016
Diagnosis of congenital von Willebrand disease during a preoperative assessment in a multiple myeloma patient without bleeding history.
El Ouaaliti M et al.
Clinical Case Reports, 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
De novo mutation and somatic mosaicism of gene mutation in type 2A, 2B and 2M VWD.
Shen MC et al.
Thrombosis Journal, 2016
Current controversies in the diagnosis and management of von Willebrand disease.
Neff AT
Therapeutic Advances in Hematology, 2015
Crucial role for the VWF A1 domain in binding to type IV collagen.
Flood VH et al.
Blood, 2015
How I treat type 2 variant forms of von Willebrand disease.
Tosetto A et al.
Blood, 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
New development in von Willebrand disease.
Castaman G
Current Opinion in Hematology, 2013