Associated Papers
Thrombotic risk determined by ABO, F8, and VWF variants in a population-based cohort study.
Manderstedt E et al.
Research and Practice in Thrombosis and Haemostasis, 2025
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
Variant mapping using mass spectrometry-based proteotyping as a diagnostic tool in von Willebrand disease.
Kreft IC et al.
Journal of Thrombosis and Haemostasis : Jth, 2024
Genetic associations of protein-coding variants in venous thromboembolism.
He XY et al.
Nature Communications, 2024
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
Clinical relevance of genetic variants in the von Willebrand factor according to in-silico methods.
Woods AI et al.
American Journal of Medical Genetics. Part A, 2024
Coexpression of factor VIII and factor von Willebrand variants in a woman with heavy menstrual bleeding.
Casini A et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2023
Missense Variants of von Willebrand Factor in the Background of COVID-19 Associated Coagulopathy.
Elek Z et al.
Genes, 2023
Current Understanding of Inherited Modifiers of FVIII Pharmacokinetic Variation.
Swystun LL et al.
Pharmacogenomics and Personalized Medicine, 2023
Whole-exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors.
Pankratz N et al.
Human Molecular Genetics, 2022
The Lesson Learned from the New c.2547-1G > T Mutation Combined with p.R854Q: When a Type 2N Mutation Reveals a Quantitative von Willebrand Factor Defect.
Casonato A et al.
Thrombosis and Haemostasis, 2022
Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.
Bateman NW et al.
Iscience, 2022
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
Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing.
Gindele R et al.
Life (basel, Switzerland), 2021
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
Variants p.Pro2063Ser and p.Arg324* co-segregate in type 3 von Willebrand disease patients from Southern Brazil.
Ornaghi AP et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021
A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis.
Bell S et al.
Communications Biology, 2021
Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.
Pagliari MT et al.
Plos One, 2021
Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.
Fontana D et al.
Hemasphere, 2020
Shear Stress-Induced Activation of von Willebrand Factor and Cardiovascular Pathology.
Okhota S et al.
International Journal of Molecular Sciences, 2020
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
Investigation of discordant phenotype in mild Hemophilia A using whole exome sequencing.
Cygan PH et al.
Thrombosis Research, 2020
Factor VIII binding affects the mechanical unraveling of the A2 domain of von Willebrand factor.
Cao W et al.
Journal of Thrombosis and Haemostasis : Jth, 2020
Coagulation factor VIII: Relationship to cardiovascular disease risk and whole genome sequence and epigenome-wide analysis in African Americans.
Raffield LM et al.
Journal of Thrombosis and Haemostasis : Jth, 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
Role of factor VIII-binding capacity of endogenous von Willebrand factor in the development of factor VIII inhibitors in patients with severe hemophilia A.
Repessé Y et al.
Haematologica, 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
Association study of genetic variations of inflammatory biomarkers with susceptibility and severity of obstructive sleep apnea.
Zhang Z et al.
Molecular Genetics & Genomic Medicine, 2019
Genetic variants of VWF gene in type 2 von Willebrand disease.
Freitas SDS et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 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
Correction of a dominant-negative von Willebrand factor multimerization defect by small interfering RNA-mediated allele-specific inhibition of mutant von Willebrand factor.
de Jong A et al.
Journal of Thrombosis and Haemostasis : Jth, 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
What is currently known about the genetics of venous thromboembolism at the dawn of next generation sequencing technologies.
Trégouët DA et al.
British Journal of Haematology, 2018
ADAMTS13 missense variants associated with defective activity and secretion of ADAMTS13 in a patient with non-cirrhotic portal hypertension.
Goel A et al.
Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, 2017
Common genetic risk factors of venous thromboembolism in Western and Asian populations.
Huang SS et al.
Genetics and Molecular Research : Gmr, 2016
Additional markers for genetic diagnosis of type 3 von Willebrand disease in Indian population.
Kasatkar P et al.
The Indian Journal of Medical Research, 2015
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Gene-centric approach identifies new and known loci for FVIII activity and VWF antigen levels in European Americans and African Americans.
Tang W et al.
American Journal of Hematology, 2015
Identification of an interaction between VWF rs7965413 and platelet count as a novel risk marker for metabolic syndrome: an extensive search of candidate polymorphisms in a case-control study.
Nakatochi M et al.
Plos One, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
New insights into genotype and phenotype of VWD.
Flood VH
Hematology. American Society of Hematology. Education Program, 2014