Associated Papers
Genetic Analysis of Patients with Chronic Thromboembolic Pulmonary Hypertension (CTEPH): A Single-Center Observational Study.
Bereczky Z et al.
Genes, 2025
Genotype vs laboratory phenotype correlation of defects in natural anticoagulants in patients with venous thromboembolism.
Van Laer C et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
Assessment of a next generation sequencing gene panel strategy in 133 patients with negative thrombophilia screening.
Suchon P et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
A new hereditary PROS1 gene mutation caused isolated cortical venous thrombosis.
Huang J et al.
Thrombosis Research, 2025
Multifocal osteonecrosis due to the synergistic impact of inherited thrombophilia, autoimmunity, and pregnancy: A case report.
Menon JC et al.
Modern Rheumatology Case Reports, 2025
Thrombophilia Screening: Not So Straightforward.
Moore GW
Seminars in Thrombosis and Hemostasis, 2024
Rare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer's disease.
Bhattarai P et al.
Acta Neuropathologica, 2024
Management of Thrombosis in a Patient with Three Thrombophilic Disorders.
Marco-Rico A et al.
Journal of Blood Medicine, 2024
Clinical application of multigene panel testing for bleeding, thrombotic, and platelet disorders: a 3-year Belgian experience.
Van Laer C et al.
Journal of Thrombosis and Haemostasis : Jth, 2023
A Case of a Pediatric Patient With Protein S Heerlen Polymorphism and Deep Venous Thrombosis.
Kacar M et al.
Journal of Pediatric Hematology/oncology, 2022
Classic Thrombophilias and Thrombotic Risk Among Middle-Aged and Older Adults: A Population-Based Cohort Study.
Manderstedt E et al.
Journal of the American Heart Association, 2022
Inherited Thrombophilia in the Era of Direct Oral Anticoagulants.
Khider L et al.
International Journal of Molecular Sciences, 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
Genetic Variants in the Protein S ( PROS1 ) Gene and Protein S Deficiency in a Danish Population.
Larsen OH et al.
Th Open : Companion Journal to Thrombosis and Haemostasis, 2021
Genomic Analysis for the Detection of Bleeding and Thrombotic Disorders.
Gomez K
Seminars in Thrombosis and Hemostasis, 2021
Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients-A Single-Center Experience in Genetic Diagnosis.
Preisler B et al.
Journal of Clinical Medicine, 2021
Recommendations for clinical laboratory testing for protein S deficiency: Communication from the SSC committee plasma coagulation inhibitors of the ISTH.
Marlar RA et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Carrier frequencies of antithrombin, protein C, and protein S deficiency variants estimated using a public database and expression experiments.
Maruyama K et al.
Research and Practice in Thrombosis and Haemostasis, 2021
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting.
Stenson PD et al.
Human Genetics, 2020
Multi-Omics Characterization of the Spontaneous Mesenchymal-Epithelial Transition in the PMC42 Breast Cancer Cell Lines.
Bhatia S et al.
Journal of Clinical Medicine, 2019
A large-scale exome array analysis of venous thromboembolism.
Lindström S et al.
Genetic Epidemiology, 2019
Clinical Manifestation and Mutation Spectrum of 53 Unrelated Pedigrees with Protein S Deficiency in China.
Li L et al.
Thrombosis and Haemostasis, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Prevalence and in silico analysis of missense mutations in the PROS1 gene in the Swedish population: The SweGen dataset.
Zöller B
Thrombosis Research, 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
Genetic characterization of antithrombin, protein C, and protein S deficiencies in Polish patients.
Wypasek E et al.
Polish Archives of Internal Medicine, 2017
Whole-exome sequencing in evaluation of patients with venous thromboembolism.
Lee EJ et al.
Blood Advances, 2017
Protein S Heerlen mutation heterozygosity is associated with venous thrombosis risk.
Suchon P et al.
Scientific Reports, 2017
Impact of high risk thrombophilia status on recurrence among children and adults with VTE: An observational multicenter cohort study.
Brüwer G et al.
Blood Cells, Molecules & Diseases, 2016
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
Pagnamenta AT et al.
Human Molecular Genetics, 2015
Heerlen polymorphism associated with type III protein S deficiency and factor V Leiden mutation in a Polish patient with deep vein thrombosis.
Wypasek E et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2014
Molecular basis of protein S deficiency in China.
Tang L et al.
American Journal of Hematology, 2013
Protein S deficiency and Heerlen polymorphism in a Polish patient with acute myocardial infarction and previous venous thromboembolism.
Wypasek E et al.
Thrombosis Research, 2013
Genotype and laboratory and clinical phenotypes of protein s deficiency.
Duebgen S et al.
American Journal of Clinical Pathology, 2012
Clinical consequences of compound heterozygosity for protein S mutation Heerlen and p.Cys252Gly protein S mutation.
Varvenne M et al.
Thrombosis Research, 2011
Protein S inherited qualitative deficiency: novel mutations and phenotypic influence.
Alhenc-Gelas M et al.
Journal of Thrombosis and Haemostasis : Jth, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Protein S deficiency: a clinical perspective.
ten Kate MK et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008
PROS1 analysis in 87 pedigrees with hereditary protein S deficiency demonstrates striking genotype-phenotype associations.
Ten Kate MK et al.
Human Mutation, 2008