Associated Papers
Genetic determinants of the complement and coagulation pathways in invasive meningococcal disease.
Bellos E et al.
The Journal of Allergy and Clinical Immunology, 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
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
Long-range and real-time PCR identification of a large SERPINC1 deletion in a patient with antithrombin deficiency.
Matsumoto S et al.
International Journal of Hematology, 2024
SERPINC1 c.1247dupC: a novel SERPINC1 gene mutation associated with familial thrombosis results in a secretion defect and quantitative antithrombin deficiency.
Ruf M et al.
Thrombosis Journal, 2024
Antithrombin Deficiency Is Associated with Prothrombotic Plasma Fibrin Clot Phenotype.
Natorska J et al.
Thrombosis and Haemostasis, 2023
Usefulness and Limitations of Multiple Ligation-Dependent Probe Amplification in Antithrombin Deficiency.
Cifuentes R et al.
International Journal of Molecular Sciences, 2023
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
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
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 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
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
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
Management of antithrombin deficiency: an update for clinicians.
Bravo-Pérez C et al.
Expert Review of Hematology, 2019
Monitoring of heparins in antithrombin-deficient patients.
Croles FN et al.
Thrombosis Research, 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
Clinical and laboratory characteristics of antithrombin deficiencies: A large cohort study from a single diagnostic center.
Gindele R et al.
Thrombosis Research, 2017
Recurrent mutations in a SERPINC1 hotspot associate with venous thrombosis without apparent antithrombin deficiency.
Zeng W et al.
Oncotarget, 2017
Defects of splicing in antithrombin deficiency.
de la Morena-Barrio ME et al.
Research and Practice in Thrombosis and Haemostasis, 2017
SERPINC1 gene mutations in antithrombin deficiency.
Mulder R et al.
British Journal of Haematology, 2017
MUG-Mel2, a novel highly pigmented and well characterized NRAS mutated human melanoma cell line.
Rinner B et al.
Scientific Reports, 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
Common genetic risk factors of venous thromboembolism in Western and Asian populations.
Huang SS et al.
Genetics and Molecular Research : Gmr, 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
Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.
Yu F et al.
Plos One, 2015
Discordant diagnoses obtained by different approaches in antithrombin mutation analysis.
Feddersen S et al.
Clinical Biochemistry, 2014
A probabilistic model to predict clinical phenotypic traits from genome sequencing.
Chen YC et al.
Plos Computational Biology, 2014
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
Antithrombin-p.Ala416Pro: the second reported case in Japan.
Shigekiyo T et al.
Internal Medicine (tokyo, Japan), 2014
Sequence, phylogenetic and variant analyses of antithrombin III.
Kumar A et al.
Biochemical and Biophysical Research Communications, 2013
Antithrombin deficiency in three Japanese families: one novel and two reported point mutations in the antithrombin gene.
Maruyama K et al.
Thrombosis Research, 2013
Nomenclature of genetic variants in hemostasis.
Goodeve AC et al.
Journal of Thrombosis and Haemostasis : Jth, 2011
Influence of natural SERPINC1 mutations on ex vivo thrombin generation.
Alhenc-Gelas M et al.
Journal of Thrombosis and Haemostasis : Jth, 2010
Detection and characterisation of large SERPINC1 deletions in type I inherited antithrombin deficiency.
Picard V et al.
Human Genetics, 2010
Antithrombin Cambridge II (A384S): an underestimated genetic risk factor for venous thrombosis.
Corral J et al.
Blood, 2007