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 phenotype and pathophysiological mechanisms underlying qualitative low VWF.
Atiq F et al.
Blood, 2025
Integrating Next-Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real-World Data From Spanish Patients.
Borràs N et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025
Challenges and considerations of genetic testing in von Willebrand disease.
Seidizadeh O et al.
Research and Practice in Thrombosis and Haemostasis, 2025
Application of genetic testing for the diagnosis of von Willebrand disease.
Seidizadeh O et al.
Journal of Thrombosis and Haemostasis : Jth, 2024
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
Importance of Genotyping in von Willebrand Disease to Elucidate Pathogenic Mechanisms and Variability in Phenotype.
Atiq F et al.
Hemasphere, 2022
The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.
Sun J et al.
Genomics, Proteomics & Bioinformatics, 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
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
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
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
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
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
Mutations in the D'D3 region of VWF traditionally associated with type 1 VWD lead to quantitative and qualitative deficiencies of VWF.
White-Adams TC et al.
Thrombosis Research, 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
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
von Willebrand factor propeptide and the phenotypic classification of von Willebrand disease.
Sanders YV et al.
Blood, 2015
von Willebrand disease type 2A phenotypes IIC, IID and IIE: A day in the life of shear-stressed mutant von Willebrand factor.
Brehm MA et al.
Thrombosis and Haemostasis, 2014
New development in von Willebrand disease.
Castaman G
Current Opinion in Hematology, 2013
Variation in the VWF gene in Swedish patients with type 1 von Willebrand Disease.
Johansson AM et al.
Annals of Human Genetics, 2011
Advances in the diagnosis and management of type 1 von Willebrand disease.
Castaman G et al.
Expert Review of Hematology, 2011
A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE.
Schneppenheim R et al.
Blood, 2010
Genetic testing for von Willebrand disease: the case against.
Favaloro EJ
Journal of Thrombosis and Haemostasis : Jth, 2010
Reduced von Willebrand factor survival in von Willebrand disease: pathophysiologic and clinical relevance.
Castaman G 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
Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD).
Goodeve A et al.
Blood, 2007
The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study.
James PD et al.
Blood, 2007
Classification and characterization of hereditary types 2A, 2B, 2C, 2D, 2E, 2M, 2N, and 2U (unclassifiable) von Willebrand disease.
Michiels JJ et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2006
von Willebrand factor: two sides of a coin.
Sadler JE
Journal of Thrombosis and Haemostasis : Jth, 2005
The molecular biology of von Willebrand disease.
Keeney S et al.
Clinical and Laboratory Haematology, 2001
[Prevention of new cases of the disease in families of hemophilia patients in Moscow using a genetic register].
Pliushch OP et al.
Gematologiia I Transfuziologiia, 0