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
Von Willebrand Factor at the Crossroads of Hemostasis and Inflammation.
Yadegari H
Hamostaseologie, 2026
Allele-selective von Willebrand factor silencing.
Eikenboom J et al.
Research and Practice in Thrombosis and Haemostasis, 2026
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
A fully humanized von Willebrand disease type 1 mouse model as unique platform to investigate novel therapeutic options.
McCluskey G et al.
Haematologica, 2025
The future of siRNA-mediated approaches to treat von Willebrand disease.
Linthorst NA et al.
Expert Review of Hematology, 2025
Amelioration of a von Willebrand disease type 2B phenotype in vivo upon treatment with allele-selective siRNAs.
Linthorst NA et al.
Blood Advances, 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
Application of genetic testing for the diagnosis of von Willebrand disease.
Seidizadeh O 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
Membrane procoagulation and N‑terminomics/TAILS profiling in Montreal platelet syndrome kindred with VWF p.V1316M mutation.
Agbani EO et al.
Communications Medicine, 2023
Type 2B von Willebrand disease mutations differentially perturb autoinhibition of the A1 domain.
Legan ER et al.
Blood, 2023
Analysis of von Willebrand Disease in the "Heart of Europe".
Vangenechten I et al.
Th Open : Companion Journal to Thrombosis and Haemostasis, 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
Structures of VWF tubules before and after concatemerization reveal a mechanism of disulfide bond exchange.
Anderson JR et al.
Blood, 2022
The impact of aberrant von Willebrand factor-GPIbα interaction on megakaryopoiesis and platelets in humanized type 2B von Willebrand disease model mouse.
Kanaji S et al.
Haematologica, 2022
The p.P1127S pathogenic variant lowers von Willebrand factor levels through higher affinity for the macrophagic scavenger receptor LRP1: Clinical phenotype and pathogenic mechanisms.
Sacco M et al.
Journal of Thrombosis and Haemostasis : Jth, 2022
Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.
Seidizadeh O et al.
Blood Advances, 2022
Platelet dysfunction in platelet-type von Willebrand disease due to the constitutive triggering of the Lyn-PECAM1 inhibitory pathway.
Bury L et al.
Haematologica, 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
Sialylation on O-linked glycans protects von Willebrand factor from macrophage galactose lectin-mediated clearance.
Ward SE et al.
Haematologica, 2022
Reevaluation of von Willebrand disease diagnosis in a Croatian paediatric cohort combining bleeding scores, phenotypic laboratory assays and next generation sequencing: a pilot study.
Lapić I et al.
Biochemia Medica, 2022
A thrombopoietin receptor agonist to rescue an unusual platelet transfusion-induced reaction in a p.V1316M-associated von Willebrand disease type 2B patient.
Casari C et al.
Therapeutic Advances in Hematology, 2022
Type 2B von Willebrand Disease: Early Manifestation as Neonatal Thrombocytopenia.
Kranzhöfer D et al.
Hamostaseologie, 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
Fibronectin binding to von Willebrand factor occurs via the A1 domain.
Keesler DA et al.
Research and Practice in Thrombosis and Haemostasis, 2021
Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing.
Gindele R et al.
Life (basel, Switzerland), 2021
[von Willebrand disease type 2B caused by gene mutation in a newborn].
Ma JY et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2021
Diagnosis of von Willebrand disease in Western Mexico.
Zavelia Padilla-Romo MG et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021
Case Report: An Infant with Severe Thrombocytopenia Diagnosed with Type 2B von Willebrand Disease Due To a De Novo p.Val1316Met Mutation
Fan J et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2020
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
Inherited thrombocytopenias: history, advances and perspectives.
Nurden AT et al.
Haematologica, 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
Measuring beta-galactose exposure on platelets: Standardization and healthy reference values.
Lasne D 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
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
Relevance of platelet desialylation and thrombocytopenia in type 2B von Willebrand disease: preclinical and clinical evidence.
Dupont A et al.
Haematologica, 2019
Hyperactive GPIb-von Willebrand factor interaction as cause of thrombocytopenia: altered platelet formation versus clearance.
Freson K
Haematologica, 2019
Rare Co-occurrence of Eosinophilic Esophagitis and Type 2B von Willebrand Disease: Implications for Endoscopic Surveillance and Esophageal Dilation.
Corder SR et al.
Acg Case Reports Journal, 2019
Shear stress and platelet-induced tensile forces regulate ADAMTS13-localization within the platelet thrombus.
Shida Y et al.
Research and Practice in Thrombosis and Haemostasis, 2019