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
Allele-selective Disruption of Pathogenic VWF Variants in Type 2 Von Willebrand Disease using CRISPR/Cas9.
Bär I et al.
Blood Advances, 2025
Clinical phenotype and pathophysiological mechanisms underlying qualitative low VWF.
Atiq F et al.
Blood, 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
Conformation-specific RNA aptamers for phenotypic distinction between normal von Willebrand factor and type 2B von Willebrand disease.
Machha VR et al.
Nar Molecular Medicine, 2024
Neonatal Onset Type 2B von Willebrand Disease due to p.Arg1306Trp Variant: a Case Report and a Literature Review.
Choi HY et al.
Clinical Laboratory, 2024
Application of genetic testing for the diagnosis of von Willebrand disease.
Seidizadeh O et al.
Journal of Thrombosis and Haemostasis : Jth, 2024
Variant mapping using mass spectrometry-based proteotyping as a diagnostic tool in von Willebrand disease.
Kreft IC et al.
Journal of Thrombosis and Haemostasis : Jth, 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 search for the underlying mutations causing VWD in 13 Venezuelan families.
Marchi R et al.
Thrombosis Research, 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
Origin and timing of de novo variants implicated in type 2 von Willebrand disease.
Chen M et al.
Journal of Cellular and Molecular Medicine, 2022
The VWF binding aptamer rondoraptivon pegol increases platelet counts and VWF/FVIII in type 2B von Willebrand disease.
Ay C 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
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
Von Willebrand Factor Multimer Densitometric Analysis: Validation of the Clinical Accuracy and Clinical Implications in Von Willebrand Disease.
Boender J et al.
Hemasphere, 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
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
Hyperactive GPIb-von Willebrand factor interaction as cause of thrombocytopenia: altered platelet formation versus clearance.
Freson K
Haematologica, 2019
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
Analytical characterization and reference interval of an enzyme-linked immunosorbent assay for active von Willebrand factor.
van der Vorm LN et al.
Plos One, 2019
Clinically relevant differences between assays for von Willebrand factor activity.
Boender J et al.
Journal of Thrombosis and Haemostasis : Jth, 2018
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
Comprehensive re-evaluation of historical von Willebrand disease diagnosis in association with whole blood platelet aggregation and function.
Nummi V et al.
International Journal of Laboratory Hematology, 2018
High proportion of patients with bleeding of unknown cause in persons with a mild-to-moderate bleeding tendency: Results from the Vienna Bleeding Biobank (VIBB).
Gebhart J et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 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
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
A discontinuous autoinhibitory module masks the A1 domain of von Willebrand factor.
Deng W et al.
Journal of Thrombosis and Haemostasis : Jth, 2017
Management of Type 2B von Willebrand Disease during Pregnancy.
McLaughlin D et al.
Acta Haematologica, 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
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 von Willebrand disease - more often misidentified than correctly identified.
Favaloro EJ et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 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
Higher and lower active circulating VWF levels: different facets of von Willebrand disease.
Casonato A et al.
British Journal of Haematology, 2015
The spectrum of mutations in Southern Spanish patients with von Willebrand disease.
Álvarez-Laderas I et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2015
How I treat type 2 variant forms of von Willebrand disease.
Tosetto A et al.
Blood, 2015
Systematic analysis of bleeding phenotype in PT-VWD compared to type 2B VWD using an electronic bleeding questionnaire.
Kaur H et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2014