Associated Papers
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
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
Antithrombin: Deficiency, Diversity, and the Future of Diagnostics.
Kruijt M et al.
Mass Spectrometry Reviews, 2025
Novel insights into antithrombin deficiency enabled by mass spectrometry-based precision diagnostics.
Kruijt M et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
Identification of two point mutations associated with inherited antithrombin deficiency.
Lai SW et al.
Thrombosis Journal, 2024
Lynch Syndrome-associated Genomic Variants.
Botea R et al.
Journal of Gastrointestinal and Liver Diseases : Jgld, 2024
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
Comparison of antithrombin activity assays in detection of patients with heparin binding site antithrombin deficiency: systematic review and meta-analysis.
Rojnik T et al.
Scientific Reports, 2023
Antithrombin Deficiency Is Associated with Prothrombotic Plasma Fibrin Clot Phenotype.
Natorska J et al.
Thrombosis and Haemostasis, 2023
Human induced pluripotent stem cells derived from a patient with a mutation of SERPINC1 c.236G>A (p.R79H).
Chen W et al.
Stem Cell Research, 2023
Detection of Unknown and Rare Pathogenic Variants in Antithrombin, Protein C and Protein S Deficiency Using High-Throughput Targeted Sequencing.
Vrtel P et al.
Diagnostics (basel, Switzerland), 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
Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.
Zhou Y et al.
Science Advances, 2021
Investigation of the Differences in Antithrombin to Heparin Binding among Antithrombin Budapest 3, Basel, and Padua Mutations by Biochemical and In Silico Methods.
Gindele R et al.
Biomolecules, 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
Functional Characterization of Antithrombin Mutations by Monitoring of Thrombin Inhibition Kinetics.
Reda S et al.
International Journal of Molecular Sciences, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 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
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
Clinical and laboratory characteristics of antithrombin deficiencies: A large cohort study from a single diagnostic center.
Gindele R et al.
Thrombosis Research, 2017
Genetic characterization of antithrombin, protein C, and protein S deficiencies in Polish patients.
Wypasek E et al.
Polish Archives of Internal Medicine, 2017
Founder effect is responsible for the p.Leu131Phe heparin-binding-site antithrombin mutation common in Hungary: phenotype analysis in a large cohort.
Gindele R et al.
Journal of Thrombosis and Haemostasis : Jth, 2016
Antithrombin heparin binding site deficiency: A challenging diagnosis of a not so benign thrombophilia.
Orlando C et al.
Thrombosis Research, 2015
Prediction of the pathogenicity of antithrombin sequence variations by in silico methods.
Luxembourg B et al.
Thrombosis Research, 2015
Development of a novel, rapid assay for detection of heparin-binding defect antithrombin deficiencies: the heparin-antithrombin binding (HAB) ratio.
Moore GW et al.
Thrombosis Research, 2015
Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population.
Kim HJ et al.
Haematologica, 2014
Sequence, phylogenetic and variant analyses of antithrombin III.
Kumar A et al.
Biochemical and Biophysical Research Communications, 2013