Associated Papers
Genetic and clinical characterization of congenital fibrinogen disorders in ten Polish patients: identification of three new variants - Fibrinogen Gdańsk II (FGB c.749A>G), Fibrinogen Gdańsk III (FGG c.246dupA) and Fibrinogen Toruń (FGB c.270delT).
Ochotnicka J et al.
Polish Archives of Internal Medicine, 2026
Updated global prevalence and ethnic diversity of von Willebrand disease based on population genetics analysis.
Seidizadeh O et al.
Scientific Reports, 2026
Identification of a Novel CLPX Variant in a Mixed-Breed Dog with Anemia and Spinocerebellar Ataxia.
de Cecco BS et al.
Genes, 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
Integrating Next-Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real-World Data From Spanish Patients.
Borràs N et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025
Application of genetic testing for the diagnosis of von Willebrand disease.
Seidizadeh O et al.
Journal of Thrombosis and Haemostasis : Jth, 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
Whole-Exome Sequencing in a Family with an Unexplained Tendency for Venous Thromboembolism: Multicomponent Prediction of Low-Frequency Variant Deleteriousness and of Individual Protein Interaction.
Lunghi B et al.
International Journal of Molecular Sciences, 2023
Identification of PCSK9-like human gene knockouts using metabolomics, proteomics, and whole-genome sequencing in a consanguineous population.
Belkadi A et al.
Cell Genomics, 2023
Inferring bona fide Differentially Expressed Genes and Their Variants Associated with Vitamin K Deficiency Using a Systems Genetics Approach.
Rajagopal S et al.
Genes, 2022
Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.
Seidizadeh O et al.
Blood Advances, 2022
Molecular study of a large cohort of 109 haemophilia patients from Cuba using a gene panel with next generation sequencing-based technology.
Borràs N et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2022
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Diagnostic challenges in von Willebrand disease. Report of two cases with emphasis on multimeric and molecular analysis.
Moreno-Castaño AB et al.
Platelets, 2021
Fibronectin binding to von Willebrand factor occurs via the A1 domain.
Keesler DA et al.
Research and Practice in Thrombosis and Haemostasis, 2021
Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.
Pagliari MT et al.
Plos One, 2021
DNA binds to a specific site of the adhesive blood-protein von Willebrand factor guided by electrostatic interactions.
Sandoval-Pérez A et al.
Nucleic Acids Research, 2020
Genetic Background of von Willebrand Disease: History, Current State, and Future Perspectives.
Zolkova J et al.
Seminars in Thrombosis and Hemostasis, 2020
Challenges in diagnosis of von Willebrand disease in the presence of combined mutations of different genes.
Nava T et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019
Defective collagen binding and increased bleeding in a murine model of von Willebrand disease affecting collagen IV binding.
Slobodianuk TL et al.
Journal of Thrombosis and Haemostasis : Jth, 2019
Current issues in diagnosis and treatment of von Willebrand disease.
Keesler DA et al.
Research and Practice in Thrombosis and Haemostasis, 2018
Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project.
Pérez-Rodríguez A et al.
Plos One, 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
Novel insights into the clinical phenotype and pathophysiology underlying low VWF levels.
Lavin M et al.
Blood, 2017
Von Willebrand disease mutation spectrum and associated mutation mechanisms.
de Jong A et al.
Thrombosis Research, 2017
What have we learned from large population studies of von Willebrand disease?
Montgomery RR et al.
Hematology. American Society of Hematology. Education Program, 2016
Crucial role for the VWF A1 domain in binding to type IV collagen.
Flood VH et al.
Blood, 2015
Perils, problems, and progress in laboratory diagnosis of von Willebrand disease.
Flood VH
Seminars in Thrombosis and Hemostasis, 2014
Translational medicine advances in von Willebrand disease.
Lillicrap D
Journal of Thrombosis and Haemostasis : Jth, 2013
The molecular characterization of von Willebrand disease: good in parts.
James PD et al.
British Journal of Haematology, 2013
Third Åland islands conference on von Willebrand disease, 26-28 September 2012: meeting report.
Berntorp E et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2013
von Willebrand disease type 2B must be always considered in the differential diagnosis of genetic thrombocytopenias with giant platelets.
Loffredo G et al.
Platelets, 2006
Type 2B von Willebrand's disease due to Val1316Met mutation. Heterogeneity in the same sibship.
Rendal E et al.
Annals of Hematology, 2001
A 2-year-old boy with recurrent severe bleeding: von Willebrand type 2B and ITP--or von Willebrand type 2B alone?
Rauch R et al.
European Journal of Pediatrics, 1999
Giant platelet disorder in a patient with type 2B von Willebrand's disease.
Moll S et al.
American Journal of Hematology, 1998