Associated Papers
Significance of the amino acid at position 2561 in the C4 domain of von Willebrand factor.
McKinnon TAJ et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
Genetic Analysis of Patients with Chronic Thromboembolic Pulmonary Hypertension (CTEPH): A Single-Center Observational Study.
Bereczky Z et al.
Genes, 2025
Clinical phenotype and pathophysiological mechanisms underlying qualitative low VWF.
Atiq F et al.
Blood, 2025
Development and Characterisation of a New Patient-Derived Xenograft Model of AR-Negative Metastatic Castration-Resistant Prostate Cancer.
Turnham DJ et al.
Cells, 2024
The search for the underlying mutations causing VWD in 13 Venezuelan families.
Marchi R et al.
Thrombosis Research, 2024
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Elife, 2024
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Biorxiv : the Preprint Server for Biology, 2023
Gain-of-Function Variant p.Pro2555Arg of von Willebrand Factor Increases Aggregate Size through Altering Stem Dynamics.
Huck V et al.
Thrombosis and Haemostasis, 2022
Modulation of von Willebrand Factor Function by Domain C4 Mutations.
Hoylaerts MF
Thrombosis and Haemostasis, 2022
The Manifold Cellular Functions of von Willebrand Factor.
Mojzisch A et al.
Cells, 2021
Prothrombotic variants as modifiers of clinical phenotype in four related individuals with haemophilia A.
Carrel L et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 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
Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.
Pagliari MT et al.
Plos One, 2021
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
The von Willebrand factor Tyr2561 allele is a gain-of-function variant and a risk factor for early myocardial infarction.
Schneppenheim R et al.
Blood, 2019
Group association test using a hidden Markov model.
Cheng Y et al.
Biostatistics (oxford, England), 2016
A variational Bayes discrete mixture test for rare variant association.
Logsdon BA et al.
Genetic Epidemiology, 2014
Next-generation sequencing study finds an excess of rare, coding single-nucleotide variants of ADAMTS13 in patients with deep vein thrombosis.
Lotta LA et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3.
Sutherland MS et al.
Blood, 2009
C1584 in von Willebrand factor is necessary for enhanced proteolysis by ADAMTS13 in vitro.
Keeney S et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2007
Genetic and Clinical Predictors of Left Atrial Thrombus: A Single Center Case-Control Study.
Springer A et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 0