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
Deep molecular modeling and mechanistic insights into type 2A von Willebrand disease with von Willebrand factor A2 domain mutations.
Seidizadeh O et al.
Research and Practice in Thrombosis and Haemostasis, 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
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
Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.
Seidizadeh O et al.
Blood Advances, 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
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
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
Vonicog alfa for the management of von Willebrand disease: a comprehensive review and single-center experience.
Tran T et al.
Journal of Thrombosis and Thrombolysis, 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
Long-ranged Protein-glycan Interactions Stabilize von Willebrand Factor A2 Domain from Mechanical Unfolding.
Dong C et al.
Scientific Reports, 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
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
Mutation G1629E Increases von Willebrand Factor Cleavage via a Cooperative Destabilization Mechanism.
Aponte-Santamaría C et al.
Biophysical Journal, 2017
A common mechanism by which type 2A von Willebrand disease mutations enhance ADAMTS13 proteolysis revealed with a von Willebrand factor A2 domain FRET construct.
Lynch CJ et al.
Plos One, 2017
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
De novo mutation and somatic mosaicism of gene mutation in type 2A, 2B and 2M VWD.
Shen MC et al.
Thrombosis Journal, 2016
Germline de novo mutations and linkage markers vs. DNA sequencing for carrier detection in von Willebrand disease.
Ahmad F et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2014
Structural basis of type 2A von Willebrand disease investigated by molecular dynamics simulations and experiments.
Interlandi G et al.
Plos One, 2012
Shear-induced unfolding activates von Willebrand factor A2 domain for proteolysis.
Baldauf C et al.
Journal of Thrombosis and Haemostasis : Jth, 2009
C1584 in von Willebrand factor is necessary for enhanced proteolysis by ADAMTS13 in vitro.
Keeney S et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2007
von Willebrand factor collagen binding assay with a commercial kit using type III collagen in von Willebrand disease type 2.
Veyradier A et al.
Journal of Thrombosis and Haemostasis : Jth, 2007
The association between the L1565 variant of von Willebrand factor and susceptibility to proteolysis by ADAMTS13.
Davies JA et al.
Haematologica, 2007
von Willebrand factor collagen binding assay in von Willebrand disease type 2A, 2B, and 2M.
Baronciani L et al.
Journal of Thrombosis and Haemostasis : Jth, 2006
Diagnostic and therapeutic difficulties in type 2A von Willebrand disease: resolution.
Thomas MR et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2006
Impact of mutations in the von Willebrand factor A2 domain on ADAMTS13-dependent proteolysis.
Hassenpflug WA et al.
Blood, 2006
ADAMTS13 substrate recognition of von Willebrand factor A2 domain.
Zanardelli S et al.
The Journal of Biological Chemistry, 2006
Theoretical structural explanation for Group I and Group II, type 2A von Willebrand disease mutations.
O'Brien LA et al.
Journal of Thrombosis and Haemostasis : Jth, 2005
Molecular modeling of the von Willebrand factor A2 Domain and the effects of associated type 2A von Willebrand disease mutations.
Sutherland JJ et al.
Journal of Molecular Modeling, 2004
Advances in the genetics and treatment of von Willebrand disease.
Federici AB et al.
Current Opinion in Pediatrics, 2002
Molecular genetics of type 2 von Willebrand disease.
Fressinaud E et al.
International Journal of Hematology, 2002
The molecular biology of von Willebrand disease.
Keeney S et al.
Clinical and Laboratory Haematology, 2001
The molecular basis of von Willebrand disease.
Mohlke KL et al.
International Journal of Clinical & Laboratory Research, 1999
Rapid genotypic diagnosis of type 2A von Willebrand's disease by heteroduplex analysis.
Culpan D et al.
Clinical and Laboratory Haematology, 1998
Molecular modeling of ligand and mutation sites of the type A domains of human von Willebrand factor and their relevance to von Willebrand's disease.
Jenkins PV et al.
Blood, 1998
Molecular genetics of von Willebrand disease.
Mazurier C et al.
Annales De Genetique, 1998
Molecular study of VWF gene from Mexican Mestizo patients with von Willebrand disease, and the finding of three new mutations.
Melo-Nava BM et al.
Blood Cells, Molecules & Diseases, 0