Associated Papers
Genetic determinants of clinical variability in type 2 von Willebrand disease: bridging genotype and phenotype.
Seidizadeh O et al.
Haematologica, 2026
A novel p.C1130S mutation in a Finnish family with a complex phenotype of von Willebrand disease.
Calcoen B et al.
Haematologica, 2026
Von Willebrand disease: classification and epidemiology.
Castaman G et al.
Haematologica, 2026
A Review of Desmopressin Use in Bleeding Disorders: An Unsung Hero?
Reardon B et al.
Biomolecules, 2025
Von Willebrand disease (VWD) and pregnancy: a comprehensive overview.
Soleimani Samarkhazan H et al.
Thrombosis Journal, 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
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
Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.
Seidizadeh O et al.
Blood Advances, 2022
Novel cysteine substitution p.(Cys1084Tyr) causes variable expressivity of qualitative and quantitative VWF defects.
Rawley O et al.
Blood Advances, 2022
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
Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses.
Kim HJ et al.
Annals of Laboratory Medicine, 2019
Pregnancy and delivery in women with von Willebrand disease.
Castaman G et al.
European Journal of Haematology, 2019
Alteration in GPIIb/IIIa Binding of VWD-Associated von Willebrand Factor Variants with C-Terminal Missense Mutations.
König G et al.
Thrombosis and Haemostasis, 2019
Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA.
Borràs N et al.
Haematologica, 2019
von Willebrand factor clearance - biological mechanisms and clinical significance.
O'Sullivan JM et al.
British Journal of Haematology, 2018
Type 2N von Willebrand disease: Characterization and diagnostic difficulties.
Casonato A et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018
Von Willebrand disease mutation spectrum and associated mutation mechanisms.
de Jong A et al.
Thrombosis Research, 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
Diagnostic Value of Measuring Platelet Von Willebrand Factor in Von Willebrand Disease.
Casonato A et al.
Plos One, 2016
New development in von Willebrand disease.
Castaman G
Current Opinion in Hematology, 2013
Clearance of von Willebrand factor.
Casari C et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
Weibel-Palade bodies: a window to von Willebrand disease.
Valentijn KM et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
VWF propeptide and ratios between VWF, VWF propeptide, and FVIII in the characterization of type 1 von Willebrand disease.
Eikenboom J et al.
Blood, 2013
Von Willebrand disease: pathogenesis and management.
Rodeghiero F
Thrombosis Research, 2013
Changes of von Willebrand Factor during Pregnancy in Women with and without von Willebrand Disease.
Castaman G
Mediterranean Journal of Hematology and Infectious Diseases, 2013
[The phenotypic and genotypic diagnosis of three Chinese patients with von Willebrand disease].
Jiang LL et al.
Zhonghua Nei Ke Za Zhi, 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
Bleeding tendency and efficacy of anti-haemorrhagic treatments in patients with type 1 von Willebrand disease and increased von Willebrand factor clearance.
Castaman G et al.
Thrombosis and Haemostasis, 2011
Advances in the diagnosis and management of type 1 von Willebrand disease.
Castaman G et al.
Expert Review of Hematology, 2011
Reduced survival of type 2B von Willebrand factor, irrespective of large multimer representation or thrombocytopenia.
Casonato A et al.
Haematologica, 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
Pregnancy and delivery in women with von Willebrand's disease and different von Willebrand factor mutations.
Castaman G et al.
Haematologica, 2010
Accelerated clearance alone explains ultra-large multimers in von Willebrand disease Vicenza.
Gézsi A et al.
Journal of Thrombosis and Haemostasis : Jth, 2010
Type 1 von Willebrand disease due to reduced von Willebrand factor synthesis and/or survival: observations from a case series.
Casonato A et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2010
Genetic testing for von Willebrand disease: the case against.
Favaloro EJ
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
Laboratory diagnosis and molecular classification of von Willebrand disease.
Gadisseur A et al.
Acta 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
Von Willebrand factor propeptide makes it easy to identify the shorter Von Willebrand factor survival in patients with type 1 and type Vicenza von Willebrand disease.
Sztukowska M et al.
British Journal of Haematology, 2008
Identification of type 1 von Willebrand disease patients with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: molecular and clinical markers for the diagnosis and management of type 1 VWD (MCMDM-1VWD).
Haberichter SL et al.
Blood, 2008