Associated Papers
Thrombophilia gene mutations predict venous thromboembolism in ambulatory cancer patients receiving chemotherapy.
Roy DC et al.
Journal of Thrombosis and Haemostasis : Jth, 2023
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
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
A Novel Phenotype of the Factor 5 Gene Mutation (Homozygote Met1736Val and Heterozygote Asp68His) Is Associated With Moderate Factor V Deficiency.
Chang YS et al.
Frontiers in Medicine, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
F5-Atlanta: A novel mutation in F5 associated with enhanced East Texas splicing and FV-short production.
Zimowski KL et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
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
Exome Sequencing Reveals Common and Rare Variants in F5 Associated With ACE Inhibitor and Angiotensin Receptor Blocker-Induced Angioedema.
Maroteau C et al.
Clinical Pharmacology and Therapeutics, 2020
Genetic risk factors for venous thromboembolism.
Zöller B et al.
Expert Review of Hematology, 2020
A Genome Wide Association Study on plasma FV levels identified PLXDC2 as a new modifier of the coagulation process.
Thibord F et al.
Journal of Thrombosis and Haemostasis : Jth, 2019
Minor allele of the factor V K858R variant protects from venous thrombosis only in non-carriers of factor V Leiden mutation.
Ibrahim-Kosta M et al.
Scientific Reports, 2019
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 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
Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.
Maguire SL et al.
The Journal of Pathology, 2016
Joint effects of cancer and variants in the factor 5 gene on the risk of venous thromboembolism.
Gran OV et al.
Haematologica, 2016
Candidate gene polymorphisms and the risk for pregnancy-related venous thrombosis.
Dahm AE et al.
British Journal of Haematology, 2012
Gene variants associated with venous thrombosis: confirmation in the MEGA study.
Arellano AR et al.
Journal of Thrombosis and Haemostasis : Jth, 2010
Discovering novel risk factors for venous thrombosis: a candidate-gene approach.
Smith NL et al.
Thrombosis Research, 2009