Associated Papers
Management of Major Orthopaedic Surgery in a Patient With the Rare Thrombomodulin c.1611C>a Mutation: A Case of an Uncommon Bleeding Disorder.
Ferrey B et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025
Novel p.C252G and p.C280X mutations in the epidermal growth factor-1 domain of thrombomodulin lead to a thrombosis-bleeding syndrome.
Wang X et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
Clinical management of bleeding manifestations in a family with the thrombomodulin C1611>A (p.Cys537Stop) mutation.
Pierre-Louis S et al.
Research and Practice in Thrombosis and Haemostasis, 2025
Thrombomodulin (p.Cys537Stop) is released from cells by an unusual membrane insertion/leakage mechanism.
Bernard C et al.
Blood Advances, 2024
Bleeding Disorder of Unknown Cause: A Diagnosis of Exclusion.
Mehic D et al.
Hamostaseologie, 2024
How to investigate mild to moderate bleeding disorders and bleeding disorder of unknown cause.
Casini A et al.
International Journal of Laboratory Hematology, 2024
Investigating patients for bleeding disorders when most of the "usual" ones have been ruled out.
Mehic D et al.
Research and Practice in Thrombosis and Haemostasis, 2023
Management of rare inherited bleeding disorders: Proposals of the French Reference Centre on Haemophilia and Rare Coagulation Disorders.
Trossaert M et al.
European Journal of Haematology, 2023
Rare inherited coagulation and fibrinolytic defects that challenge diagnostic laboratories.
Mathews N et al.
International Journal of Laboratory Hematology, 2023
Thrombomodulin in patients with mild to moderate bleeding tendency.
Mehic D et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021
A novel homozygous variant of the thrombomodulin gene causes a hereditary bleeding disorder.
Osada M et al.
Blood Advances, 2021
Natural anticoagulants: A missing link in mild to moderate bleeding tendencies.
Mehic D et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021
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
A new pedigree with thrombomodulin-associated coagulopathy in which delayed fibrinolysis is partially attenuated by co-inherited TAFI deficiency.
Westbury SK et al.
Journal of Thrombosis and Haemostasis : Jth, 2020
New data on FII, FV, FIX and thrombomodulin defects: blood keeps clotting in normal and in peculiar ways.
Girolami A et al.
Hematology (amsterdam, Netherlands), 2019
THBD sequence variants potentially related to recurrent pregnancy loss.
Quintero-Ronderos P et al.
Reproductive Biology and Endocrinology : Rb&e, 2017
Whole exome sequencing identifies a mutation in thrombomodulin as the genetic cause of a suspected platelet disorder in a family with normal platelet function.
Maclachlan A et al.
Platelets, 2017
Why patients with THBD c.1611C>A (p.Cys537X) nonsense mutation have high levels of soluble thrombomodulin?
Jourdy Y et al.
Plos One, 2017
Altered fibrinolysis in autosomal dominant thrombomodulin-associated coagulopathy.
Burley K et al.
Blood, 2016
Effect of five therapeutic strategies on the coagulation defect induced by the thrombomodulin c.1611C>A mutation.
Dargaud Y et al.
British Journal of Haematology, 2016
A common genetic variant in 19q13·3 is associated with outcome of multiple myeloma patients treated with Total Therapy 2 and 3.
Erickson SW et al.
British Journal of Haematology, 2016
Characterization of an autosomal dominant bleeding disorder caused by a thrombomodulin mutation.
Dargaud Y et al.
Blood, 2015
A hereditary bleeding disorder resulting from a premature stop codon in thrombomodulin (p.Cys537Stop).
Langdown J et al.
Blood, 2014