Associated Papers
Updated global prevalence and ethnic diversity of von Willebrand disease based on population genetics analysis.
Seidizadeh O et al.
Scientific Reports, 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
Desmopressin response depends on the presence and type of genetic variants in patients with type 1 and type 2 von Willebrand disease.
Atiq F 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
Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS.
Baronciani L et al.
Blood Advances, 2021
The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.
Sun J et al.
Genomics, Proteomics & Bioinformatics, 2020
The Current Understanding of Molecular Pathogenesis of Quantitative von Willebrand Disease, Types 1 and 3.
Yadegari H et al.
Hamostaseologie, 2020
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
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
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
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
Identification and functional analysis of a novel von Willebrand factor mutation in a family with type 2A von Willebrand disease.
Dong J et al.
Plos One, 2012
[Gene mutation analysis of one case with von willebrand disease type 2A].
Hou LH et al.
Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2009
Laboratory diagnosis and molecular classification of von Willebrand disease.
Gadisseur A et al.
Acta Haematologica, 2009
Laboratory diagnosis of von Willebrand disease type 1/2E (2A subtype IIE), type 1 Vicenza and mild type 1 caused by mutations in the D3, D4, B1-B3 and C1-C2 domains of the von Willebrand factor gene. Role of von Willebrand factor multimers and the von Willebrand factor propeptide/antigen ratio.
Gadisseur A et al.
Acta Haematologica, 2009
N1421K mutation in the glycoprotein Ib binding domain impairs ristocetin- and botrocetin-mediated binding of von Willebrand factor to platelets.
Lanke E et al.
European Journal of Haematology, 2008
von Willebrand disease (VWD): evidence-based diagnosis and management guidelines, the National Heart, Lung, and Blood Institute (NHLBI) Expert Panel report (USA).
Nichols WL et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008
Investigation of von Willebrand factor gene mutations in Korean von Willebrand disease patients.
Song J et al.
The Korean Journal of Laboratory Medicine, 2007
Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor.
Sadler JE et al.
Journal of Thrombosis and Haemostasis : Jth, 2006
Von Willebrand's disease: a novel mutation, P1824H and the incidence of R1205H defect among families with dominant quantitative von Willebrand factor deficiency.
Casaña P et al.
Haematologica, 2006
Characterization of recessive severe type 1 and 3 von Willebrand Disease (VWD), asymptomatic heterozygous carriers versus bloodgroup O-related von Willebrand factor deficiency, and dominant type 1 VWD.
Michiels JJ et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2006
Mutations C1157F and C1234W of von Willebrand factor cause intracellular retention with defective multimerization and secretion.
Hommais A et al.
Journal of Thrombosis and Haemostasis : Jth, 2006
von Willebrand factor: two sides of a coin.
Sadler JE
Journal of Thrombosis and Haemostasis : Jth, 2005
[Recent advances in the diagnosis of von Willebrand disease].
Lewandowski K et al.
Polskie Archiwum Medycyny Wewnetrznej, 2004
Von Willebrand's disease caused by compound heterozygosity for a substitution mutation (T1156M) in the D3 domain of the von Willebrand factor and a stop mutation (Q2470X).
Lethagen S et al.
Thrombosis and Haemostasis, 2002
Significant linkage and non-linkage of type 1 von Willebrand disease to the von Willebrand factor gene.
Casaña P et al.
British Journal of Haematology, 2001
Association of the 3467C>T mutation (T1156M) in the von Willebrand's factor gene with dominant type 1 von Willebrand's disease.
Casaña P et al.
Annals of Hematology, 2001