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
Structure-resolved dynamics of type 2M von Willebrand disease.
Tischer A et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
The epitope of the antibody used in the REAADS VWF activity assay is quaternary.
Tischer A et al.
Thrombosis Journal, 2025
Type 2M/2A von Willebrand disease: a shared phenotype between type 2M and 2A.
Seidizadeh O et al.
Blood Advances, 2024
Reply to "Comment on: A comparative study in type 2 von Willebrand disease patients using four different platelet-dependent von Willebrand factor assays".
Colpani P et al.
Research and Practice in Thrombosis and Haemostasis, 2023
Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.
Seidizadeh O et al.
Blood Advances, 2022
Von Willebrand disease type 2M: Correlation between genotype and phenotype.
Maas DPMSM et al.
Journal of Thrombosis and Haemostasis : Jth, 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
Fibronectin binding to von Willebrand factor occurs via the A1 domain.
Keesler DA et al.
Research and Practice in Thrombosis and Haemostasis, 2021
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
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
Characterization of the mutation spectrum in a Pakistani cohort of type 3 von Willebrand disease.
Ahmed S et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019
The Chaperonin GroEL: A Versatile Tool for Applied Biotechnology Platforms.
O'Neil PT et al.
Frontiers in Molecular Biosciences, 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
Mutant botrocetin-2 inhibits von Willebrand factor-induced platelet agglutination.
Matsui T et al.
Journal of Thrombosis and Haemostasis : Jth, 2017
The Von Willebrand Factor A1-Collagen III Interaction Is Independent of Conformation and Type 2 Von Willebrand Disease Phenotype.
Machha VR et al.
Journal of Molecular Biology, 2017
Structural origins of misfolding propensity in the platelet adhesive von Willebrand factor A1 domain.
Zimmermann MT et al.
Biophysical Journal, 2015
Misfolding of vWF to pathologically disordered conformations impacts the severity of von Willebrand disease.
Tischer A et al.
Biophysical Journal, 2014
Cellular and molecular basis of von Willebrand disease: studies on blood outgrowth endothelial cells.
Starke RD et al.
Blood, 2013
The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles.
Bowman M et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
Absent collagen binding in a VWF A3 domain mutant: utility of the VWF:CB in diagnosis of VWD.
Flood VH et al.
Journal of Thrombosis and Haemostasis : Jth, 2010
The mutation spectrum associated with type 3 von Willebrand disease in a cohort of patients from the north west of England.
Sutherland MS et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2009
Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair.
Chuzhanova N et al.
Human Mutation, 2009
Laboratory testing for von Willebrand disease: toward a mechanism-based classification.
Torres R et al.
Clinics in Laboratory Medicine, 2009
Rapid molecular diagnosis of von Willebrand disease by direct sequencing. Detection of 12 novel putative mutations in VWF gene.
Corrales I et al.
Thrombosis and Haemostasis, 2009
Dominant von Willebrand disease type 2M and 2U are variable expressions of one distinct disease entity caused by loss-of-function mutations in the A1 domain of the von Willebrand factor gene.
Gadisseur A et al.
Acta Haematologica, 2009
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
Gene conversions are a common cause of von Willebrand disease.
Gupta PK et al.
British Journal of Haematology, 2005
Inherited bleeding disorders: disorders of platelet adhesion and aggregation.
Ramasamy I
Critical Reviews in Oncology/hematology, 2004
Von Willebrand's disease in the year 2003: towards the complete identification of gene defects for correct diagnosis and treatment.
Castaman G et al.
Haematologica, 2003
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
Type 2B von Willebrand's disease due to Val1316Met mutation. Heterogeneity in the same sibship.
Rendal E et al.
Annals of Hematology, 2001
New mutations in exon 28 of the von Willebrand factor gene detected in patients with different types of von Willebrand's disease.
Casaña P et al.
Haematologica, 2001
Molecular genetics of von Willebrand disease.
Mazurier C et al.
Annales De Genetique, 1998
Genetic defects in von Willebrand disease type 3 in Indian and Greek patients.
Gupta PK et al.
Blood Cells, Molecules & Diseases, 0