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
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
Antithrombin: Deficiency, Diversity, and the Future of Diagnostics.
Kruijt M et al.
Mass Spectrometry Reviews, 2025
Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing.
Kim JM et al.
Human Genomics, 2025
Novel insights into antithrombin deficiency enabled by mass spectrometry-based precision diagnostics.
Kruijt M et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates.
Viggiano M et al.
Npj Genomic Medicine, 2024
Analysis of AlphaFold and molecular dynamics structure predictions of mutations in serpins.
Garrido-Rodríguez P et al.
Plos One, 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
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
Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays.
de la Morena-Barrio ME et al.
Blood, 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
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
Integrated genomics point to immune vulnerabilities in pleural mesothelioma.
Nastase A et al.
Scientific Reports, 2021
Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.
Zhou Y et al.
Science Advances, 2021
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 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
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
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 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
Women with homozygous AT deficiency type II heparin-binding site (HBS) are at high risk of pregnancy loss and pregnancy complications.
Kraft J et al.
Annals of Hematology, 2017
Causative genetic mutations for antithrombin deficiency and their clinical background among Japanese patients.
Sekiya A et al.
International Journal of Hematology, 2017
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
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
A heparin binding site Arg79Cys missense mutation in the SERPINC1 gene in a Korean patient with hereditary antithrombin deficiency.
Yoo JH et al.
Annals of Clinical and Laboratory Science, 2011