Associated Papers
A novel p.C1130S mutation in a Finnish family with a complex phenotype of von Willebrand disease.
Calcoen B et al.
Haematologica, 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
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
Association of Genetic and Allelic Variants of Von Willebrand Factor (VWF), Glutathione S-Transferase and Tumor Necrosis Factor Alpha with Ischemic Stroke Susceptibility and Progression in the Saudi Population.
Jalal MM et al.
Life (basel, Switzerland), 2023
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
Novel cysteine substitution p.(Cys1084Tyr) causes variable expressivity of qualitative and quantitative VWF defects.
Rawley O et al.
Blood Advances, 2022
Identification of von Willebrand factor D4 domain mutations in patients of Afro-Caribbean descent: In vitro characterization.
Dubois MD et al.
Research and Practice in Thrombosis and Haemostasis, 2022
The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.
Sun J et al.
Genomics, Proteomics & Bioinformatics, 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
The Current Understanding of Molecular Pathogenesis of Quantitative von Willebrand Disease, Types 1 and 3.
Yadegari H et al.
Hamostaseologie, 2020
Type-3 von Willebrand disease in India-Clinical spectrum and molecular profile.
Elayaperumal S et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018
von Willebrand factor clearance - biological mechanisms and clinical significance.
O'Sullivan JM et al.
British Journal of Haematology, 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
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
Functional characterisation of the type 1 von Willebrand disease candidate VWF gene variants: p.M771I, p.L881R and p.P1413L.
Berber E et al.
Blood Transfusion = Trasfusione Del Sangue, 2017
Association between Genetic Polymorphism and Risk of von Willebrand Disease in Pakistan.
Arshad N et al.
Biomed Research International, 2017
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
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Diagnosis of inherited von Willebrand disease: comparison of two methodologies and analysis of the discrepancies.
Costa-Pinto J et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2014
New development in von Willebrand disease.
Castaman G
Current Opinion in Hematology, 2013
Analysis of the storage and secretion of von Willebrand factor in blood outgrowth endothelial cells derived from patients with von Willebrand disease.
Wang JW et al.
Blood, 2013
Weibel-Palade bodies: a window to von Willebrand disease.
Valentijn KM et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
The molecular genetics of von Willebrand disease.
Berber E
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2012
von Willebrand disease biology.
Blombäck M et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012
Biogenesis of Weibel-Palade bodies in von Willebrand's disease variants with impaired von Willebrand factor intrachain or interchain disulfide bond formation.
Wang JW et al.
Haematologica, 2012
Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storage.
Jacobi PM et al.
Blood, 2012
Acquired von Willebrand syndrome and mitral valve prosthesis leakage. A pilot study.
Pérez-Rodríguez A et al.
European Journal of Haematology, 2011
Intracellular storage and regulated secretion of von Willebrand factor in quantitative von Willebrand disease.
Wang JW et al.
The Journal of Biological Chemistry, 2011
Von Willebrand disease: an overview.
Bharati KP et al.
Indian Journal of Pharmaceutical Sciences, 2011
The dominant-negative von Willebrand factor gene deletion p.P1127_C1948delinsR: molecular mechanism and modulation.
Casari C et al.
Blood, 2010
Specific N-linked glycosylation sites modulate synthesis and secretion of von Willebrand factor.
McKinnon TA et al.
Blood, 2010
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
The mutation N528S in the von Willebrand factor (VWF) propeptide causes defective multimerization and storage of VWF.
Haberichter SL et al.
Blood, 2010
Accelerated clearance alone explains ultra-large multimers in von Willebrand disease Vicenza.
Gézsi A et al.
Journal of Thrombosis and Haemostasis : Jth, 2010
Mouse models of von Willebrand disease.
Pendu R et al.
Journal of Thrombosis and Haemostasis : Jth, 2009
Genotype/phenotype association in von Willebrand disease: is the glass half full or empty?
Lillicrap D
Journal of Thrombosis and Haemostasis : Jth, 2009
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
Autosomal dominant C1149R von Willebrand disease: phenotypic findings and their implications.
Pérez-Rodríguez A et al.
Haematologica, 2009
Clinical and laboratory versus molecular markers for a correct classification of von Willebrand disease.
Federici AB et al.
Haematologica, 2009
Autosomal recessive von Willebrand disease type 1 or 2 due to homozygous or compound heterozygous mutations in the von Willebrand factor gene. A single center experience on molecular heterogeneity and laboratory features in 12 families.
Castaman G 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
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