Associated Papers
When genotype and phenotype disagree: rethinking thrombophilia testing in the genomic era.
Ryu J et al.
Journal of Thrombosis and Haemostasis : Jth, 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
A comprehensive study of antithrombin deficiency in a large cohort of Chinese thrombophilia pedigrees: uncovering 4 SERPINC1 pathogenic variants merely impaired progressive activities.
Chen C et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
Hidden antithrombin defects: time to change and improve our thrombophilia diagnostic approach.
Corral J et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
Diagnostic Performance of Commercial Antithrombin Activity Assays: Do We Get What We Expect?
Orlando C et al.
Thrombosis and Haemostasis, 2025
How we treat severe inherited antithrombin deficiency: lessons from cases homozygous for the Budapest 3 variant.
Bravo-Pérez 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
Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry.
Qu HQ et al.
Journal of Molecular Medicine (berlin, Germany), 2025
Clinical utility of panel-based genetic sequencing for von Willebrand disease.
Ramanan R et al.
Research and Practice in Thrombosis and Haemostasis, 2025
Novel insights into antithrombin deficiency enabled by mass spectrometry-based precision diagnostics.
Kruijt M et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
Digenic Inheritance of PROC and SERPINC1 Mutations Contributes to Multiple Sites Venous Thrombosis.
Li X et al.
Hamostaseologie, 2024
Thrombophilia Screening: Not So Straightforward.
Moore GW
Seminars in Thrombosis and Hemostasis, 2024
Usefulness and Limitations of Multiple Ligation-Dependent Probe Amplification in Antithrombin Deficiency.
Cifuentes R et al.
International Journal of Molecular Sciences, 2023
Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith-Wiedemann syndrome.
Sobel Naveh NS et al.
Hepatology Communications, 2022
Inherited Thrombophilia in the Era of Direct Oral Anticoagulants.
Khider L et al.
International Journal of Molecular Sciences, 2022
Molecular and clinical characterization of transient antithrombin deficiency: A new concept in congenital thrombophilia.
Bravo-Pérez C et al.
American Journal of Hematology, 2022
Platelet GPVI (Glycoprotein VI) and Thrombotic Complications in the Venous System.
Perrella G et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2021
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
Functional Characterization of Antithrombin Mutations by Monitoring of Thrombin Inhibition Kinetics.
Reda S et al.
International Journal of Molecular Sciences, 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
Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor.
Loules G et al.
Journal of Clinical Medicine, 2020
Congenital antithrombin deficiency in patients with splanchnic vein thrombosis.
Baiges A et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2020
Recommendations for clinical laboratory testing for antithrombin deficiency; Communication from the SSC of the ISTH.
Van Cott EM et al.
Journal of Thrombosis and Haemostasis : Jth, 2020
PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.
Mlakar V et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2019
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
Antithrombin Dublin (p.Val30Glu): a relatively common variant with moderate thrombosis risk of causing transient antithrombin deficiency.
Navarro-Fernández J et al.
Thrombosis and Haemostasis, 2016
Prediction of the pathogenicity of antithrombin sequence variations by in silico methods.
Luxembourg B et al.
Thrombosis Research, 2015
Sequence, phylogenetic and variant analyses of antithrombin III.
Kumar A et al.
Biochemical and Biophysical Research Communications, 2013
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon JM et al.
Nature Genetics, 2013
Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture.
Puurunen M et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
Detection and characterisation of large SERPINC1 deletions in type I inherited antithrombin deficiency.
Picard V et al.
Human Genetics, 2010