Associated Papers
Genetic analysis in fetuses with isolated clubfoot: diagnostic insights and added value.
de Vries JM et al.
European Journal of Human Genetics : Ejhg, 2026
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
Real-time imaging of blood coagulation and angiogenesis during development in a zebrafish model of type I antithrombin deficiency.
Imai Y et al.
Scientific Reports, 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
Investigation of the impact of antithrombin deficiency on the inflammatory response: Results from a single centre cohort study.
Mayger K et al.
Thrombosis Research, 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
Digenic Inheritance of PROC and SERPINC1 Mutations Contributes to Multiple Sites Venous Thrombosis.
Li X et al.
Hamostaseologie, 2024
Heterozygosity for the Budapest 3 mutation in SERPINC1 in a family with thrombophilia and structural anomalies of the inferior vena cava.
Iversen N et al.
Thrombosis Journal, 2024
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
Clinical and Molecular Characterization of Nine Novel Antithrombin Mutations.
Kállai J et al.
International Journal of Molecular Sciences, 2024
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
Functional, biochemical, molecular and clinical characterization of antithrombin c.1157T>C (p.Ile386Thr), a recurrent Polish variant with a founder effect.
Weronska A et al.
Haematologica, 2023
Antithrombin Deficiency Is Associated with Prothrombotic Plasma Fibrin Clot Phenotype.
Natorska J et al.
Thrombosis and Haemostasis, 2023
Antithrombin Deficiency and Thrombosis: A Wide Clinical Scenario Reported in a Single Institution.
Marco-Rico A et al.
Journal of Blood Medicine, 2023
Management of Antithrombin Deficiency in Pregnancy.
Hart C et al.
Hamostaseologie, 2022
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
Inherited Thrombophilia in the Era of Direct Oral Anticoagulants.
Khider L et al.
International Journal of Molecular Sciences, 2022
Utility of the SERPINC1 Gene Test in Ischemic Stroke Patients With Antithrombin Deficiency.
Kim S et al.
Frontiers in Neurology, 2022
Coexistence of antithrombin deficiency and suspected inferior vena cava atresia in an adolescent and his mother - case report and clinical implications.
Müller-Knapp M et al.
Thrombosis Journal, 2021
High penetrance of inferior vena cava system atresia in severe thrombophilia caused by homozygous antithrombin Budapest 3 variant: Description of a new syndrome.
de la Morena-Barrio ME et al.
American Journal of Hematology, 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
Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.
Zhou Y et al.
Science Advances, 2021
Clinical guidance for peripartum management of patients with hereditary thrombophilia.
Kobayashi T et al.
The Journal of Obstetrics and Gynaecology Research, 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
Functional Characterization of Antithrombin Mutations by Monitoring of Thrombin Inhibition Kinetics.
Reda S et al.
International Journal of Molecular Sciences, 2021
Antithrombin p.Thr147Ala: The First Founder Mutation in People of African Origin Responsible for Inherited Antithrombin Deficiency.
Orlando C et al.
Thrombosis and Haemostasis, 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
Treatment of Homozygous Type II Antithrombin Heparin-Binding Site Deficiency in Pregnancy.
Fiskvik H et al.
Case Reports in Obstetrics and Gynecology, 2021
Genotype-phenotype gradient of SERPINC1 variants in a single family reveals a severe compound antithrombin deficiency in a dead embryo.
Bravo-Pérez C et al.
British Journal of Haematology, 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
Age and Origin of the Founder Antithrombin Budapest 3 (p.Leu131Phe) Mutation; Its High Prevalence in the Roma Population and Its Association With Cardiovascular Diseases.
Bereczky Z et al.
Frontiers in Cardiovascular Medicine, 2020
How I treat patients with hereditary antithrombin deficiency.
Pabinger I et al.
Blood, 2019
Incidence and features of thrombosis in children with inherited antithrombin deficiency.
de la Morena-Barrio B et al.
Haematologica, 2019
Genotype phenotype correlation in a pediatric population with antithrombin deficiency.
Kovac M et al.
European Journal of Pediatrics, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Management of antithrombin deficiency: an update for clinicians.
Bravo-Pérez C et al.
Expert Review of Hematology, 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
Evaluation of endogenous thrombin potential among patients with antithrombin deficiency.
Kovac M et al.
Thrombosis Research, 2018
Expression and functional characterization of two natural heparin-binding site variants of antithrombin.
Dinarvand P et al.
Journal of Thrombosis and Haemostasis : Jth, 2018
Clinical and laboratory characteristics of antithrombin deficiencies: A large cohort study from a single diagnostic center.
Gindele R et al.
Thrombosis Research, 2017
Homozygous antithrombin deficiency type II causing neonatal thrombosis.
Swoboda V 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