Associated Papers
Genetic Analysis of Patients with Chronic Thromboembolic Pulmonary Hypertension (CTEPH): A Single-Center Observational Study.
Bereczky Z et al.
Genes, 2025
Functional assessment of genetic variants in thrombomodulin detected in patients with bleeding and thrombosis.
Van Laer C et al.
Blood, 2025
A Copernican revolution of multigenic analysis: A retrospective study on clinical exome sequencing in unclear genetic disorders.
Chetta M et al.
Computational and Structural Biotechnology Journal, 2024
Inborn errors of immunity with kidney and urinary tract disorders: a review.
Shajari A et al.
International Urology and Nephrology, 2024
Introducing Exome Sequencing as Part of the Diagnostic Algorithm for Pediatric Nephrology Patients in Bulgaria: A Single-Center Experience.
Beltcheva O et al.
Nephron, 2024
On the relevance of thrombomodulin variants in atypical hemolytic uremic syndrome.
Huerta A et al.
Kidney International, 2023
Variants in complement genes are uncommon in patients with anti-factor H autoantibody-associated atypical hemolytic uremic syndrome.
Khandelwal P et al.
Pediatric Nephrology (berlin, Germany), 2023
Genetic investigation of Nordic patients with complement-mediated kidney diseases.
Rydberg V et al.
Frontiers in Immunology, 2023
Thrombomodulin (THBD) gene variants and thrombotic risk in a population-based cohort study.
Manderstedt E et al.
Journal of Thrombosis and Haemostasis : Jth, 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
Thrombomodulin gene polymorphism and the occurrence and prognostic value of sepsis acute kidney injury.
Li Q et al.
Medicine, 2021
Genetic and molecular evidence for complement dysregulation in patients with HELLP syndrome.
Bazzan M et al.
Thrombosis Research, 2020
A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants.
Almazni I et al.
Human Mutation, 2020
Validation of distinct pathogenic patterns in a cohort of membranoproliferative glomerulonephritis patients by cluster analysis.
Garam N et al.
Clinical Kidney Journal, 2020
Complement activity and complement regulatory gene mutations are associated with thrombosis in APS and CAPS.
Chaturvedi S et al.
Blood, 2020
Rare Functional Variants in Complement Genes and Anti-FH Autoantibodies-Associated aHUS.
Valoti E et al.
Frontiers in Immunology, 2019
Deterioration in Clinical Status Is Not Enough to Suspend Eculizumab: A Genetic Complement-Mediated Atypical Hemolytic Uremic Syndrome Case Report.
Calvaruso L et al.
Case Reports in Nephrology, 2019
Complete functional characterization of disease-associated genetic variants in the complement factor H gene.
Merinero HM et al.
Kidney International, 2018
Thrombomodulin and Endothelial Dysfunction: A Disease-Modifier Shared between Malignant Hypertension and Atypical Hemolytic Uremic Syndrome.
Demeulenaere M et al.
Nephron, 2018
A Thrombomodulin Gene Polymorphism (C1418T) Is Associated with Early Outcomes in Patients Undergoing Coronary Artery Bypass Graft Surgery with a Conventional Cardiopulmonary Bypass during Hospitalization.
Pai CC et al.
Medicines (basel, Switzerland), 2017
Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome.
Bu F et al.
Journal of the American Society of Nephrology : Jasn, 2014
Post-transplant recurrence of atypical hemolytic uremic syndrome in a patient with thrombomodulin mutation.
Sinibaldi S et al.
Pediatric Transplantation, 2013
Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults.
Fremeaux-Bacchi V et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2013
Thrombomodulin mutations in atypical hemolytic-uremic syndrome.
Delvaeye M et al.
The New England Journal of Medicine, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Naturally occurring mutations in the thrombomodulin gene leading to impaired expression and function.
Kunz G et al.
Blood, 2002
Thrombomodulin promoter mutations, venous thrombosis, and varicose veins.
Le Flem L et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2001
Nephrotic-Range Proteinuria and Peripheral Edema in a Child: Not Only Idiopathic Nephrotic Syndrome.
Dolcemascolo V et al.
Case Reports in Nephrology and Dialysis, 0