Associated Papers
A fully humanized von Willebrand disease type 1 mouse model as unique platform to investigate novel therapeutic options.
McCluskey G et al.
Haematologica, 2025
Does the VWF:CB Assay Help to Diagnose von Willebrand Factor Deficiency in Patients With a Bleeding Disorder of Unknown Cause?
Trossaërt M et al.
International Journal of Laboratory Hematology, 2025
Focused panel sequencing points to genetic predisposition in non-cirrhotic intrahepatic portal hypertension patients in India.
Aaron R et al.
Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, 2024
Current Understanding of Inherited Modifiers of FVIII Pharmacokinetic Variation.
Swystun LL et al.
Pharmacogenomics and Personalized Medicine, 2023
Phenotypic and Genotypic Signatures of VWF Exon 18 in Eastern Saudi Patients Previously Diagnosed with Type 1 von Willebrand Disease.
Alzahrani FM et al.
International Journal of General Medicine, 2022
Factor VIII pharmacokinetics associates with genetic modifiers of VWF and FVIII clearance in an adult hemophilia A population.
Ogiwara K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Common and Rare Variants in Genes Associated with von Willebrand Factor Level Variation: No Accumulation of Rare Variants in Swedish von Willebrand Disease Patients.
Manderstedt E et al.
Th Open : Companion Journal to Thrombosis and Haemostasis, 2020
Phenotypic and Genotypic Characterization of von Willebrand Factor Gene (Exon 18 and 20) in Saudi Healthy Individuals.
Alzahrani FM et al.
Medical Archives (sarajevo, Bosnia and Herzegovina), 2020
Unraveling the Influence of Common von Willebrand factor variants on von Willebrand Disease Phenotype: An Exploratory Study on the Molecular and Clinical Profile of von Willebrand Disease in Spain Cohort.
Borràs N et al.
Thrombosis and Haemostasis, 2020
Genetic determinants of VWF clearance and FVIII binding modify FVIII pharmacokinetics in pediatric hemophilia A patients.
Swystun LL et al.
Blood, 2019
The role of genetics in the pathogenesis and diagnosis of type 1 Von Willebrand disease.
Flood VH et al.
Current Opinion in Hematology, 2019
The scavenger receptor SCARA5 is an endocytic receptor for von Willebrand factor expressed by littoral cells in the human spleen.
Swystun LL et al.
Journal of Thrombosis and Haemostasis : Jth, 2019
Genetic regulation of plasma von Willebrand factor levels in health and disease.
Swystun LL et al.
Journal of Thrombosis and Haemostasis : Jth, 2018
The common VWF single nucleotide variants c.2365A>G and c.2385T>C modify VWF biosynthesis and clearance.
Mufti AH et al.
Blood Advances, 2018
Common VWF sequence variants associated with higher VWF and FVIII are less frequent in subjects diagnosed with type 1 VWD.
Flood VH et al.
Research and Practice in Thrombosis and Haemostasis, 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
Classification of exon 18 linked variants of VWF gene in von Willebrand disease.
Shahbazi S et al.
International Journal of Molecular Epidemiology and Genetics, 2012
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
A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3.
Sutherland MS et al.
Blood, 2009
Prevalence and spectrum of von Willebrand disease from western India.
Trasi S et al.
The Indian Journal of Medical Research, 2005