Associated Papers
Novel and known fibrinogen gene mutations in Chinese pediatric patients with congenital dysfibrinogenemia: genetic and functional characterization.
Huang J et al.
Clinical Biochemistry, 2026
Clinical and Genetic Characterization of 51 Patients with Congenital Fibrinogen Disorders from China.
Cai Y et al.
Thrombosis and Haemostasis, 2025
The genetic spectrum of rare bleeding disorders.
Mohsenian S et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
Genetic mutations associated with congenital fibrinogen disorders: global distribution and clinical outcomes.
Nóbrega T et al.
Journal of Thrombosis and Thrombolysis, 2025
Integrating Next-Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real-World Data From Spanish Patients.
Borràs N et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025
Gynecologic and obstetric complications in women with congenital fibrinogen disorders: insights from the Prospective Rare Bleeding Disorders Database.
Mohsenian S et al.
Research and Practice in Thrombosis and Haemostasis, 2025
Molecular Aspects of Rare Coagulation Factor Deficiencies.
Tourbih H et al.
Cureus, 2025
Clinical phenotype and laboratory characteristics of 93 patients with congenital fibrinogen disorders from unrelated 36 families.
Tian D et al.
Research and Practice in Thrombosis and Haemostasis, 2024
Congenital fibrinogen disorders: a retrospective clinical and genetic analysis of the Prospective Rare Bleeding Disorders Database.
Mohsenian S et al.
Blood Advances, 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
A Quest to Find the Aetiology of Pulmonary Embolism Beyond the Common: A Case of Dyshypofibrinogenemia Presenting as Pulmonary Embolism.
Siddiqui S et al.
Cureus, 2023
Mutations Accounting for Congenital Fibrinogen Disorders: An Update.
Richard M et al.
Seminars in Thrombosis and Hemostasis, 2022
Congenital dysfibrinogenemia in major surgery: A description of four cases and review of the literature.
Yan J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 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
[Analysis of gene mutation spectrum and pharmacokinetics of fibrinogen infusion in 146 cases of congenital fibrinogen disorders].
Huang LY et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2021
Mutations in inherited fibrinogen disorders correlated with clinical features in the Chinese population.
Wan Y et al.
Journal of Thrombosis and Thrombolysis, 2021
Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing.
Gindele R et al.
Life (basel, Switzerland), 2021
Whole Blood Thromboelastometry by ROTEM and Thrombin Generation by Genesia According to the Genotype and Clinical Phenotype in Congenital Fibrinogen Disorders.
Szanto T et al.
International Journal of Molecular Sciences, 2021
Congenital Fibrinogen Deficiency in India and Role of Human Fibrinogen Concentrate.
John MJ et al.
Acta Haematologica, 2021
Mutations Causing Mild or No Structural Damage in Interfaces of Multimerization of the Fibrinogen γ-Module More Likely Confer Negative Dominant Behaviors.
Bellacchio E
International Journal of Molecular Sciences, 2020
From Routine to Research Laboratory: Strategies for the Diagnosis of Congenital Fibrinogen Disorders.
Casini A
Hamostaseologie, 2020
Risk of bleeding and thrombosis in inherited qualitative fibrinogen disorders.
Castaman G et al.
European Journal of Haematology, 2019
Mutational Epidemiology of Congenital Fibrinogen Disorders.
Casini A et al.
Thrombosis and Haemostasis, 2018
Identification and characterization of novel mutations implicated in congenital fibrinogen disorders.
Smith N et al.
Research and Practice in Thrombosis and Haemostasis, 2018
Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains.
Paraboschi EM et al.
International Journal of Molecular Sciences, 2017
Molecular dynamics-based analyses of the structural instability and secondary structure of the fibrinogen gamma chain protein with the D356V mutation.
Ali SK et al.
Journal of Biomolecular Structure & Dynamics, 2017
Fibrin clot structure in patients with congenital dysfibrinogenaemia.
Casini A et al.
Thrombosis Research, 2016
Clinical features and molecular basis of 102 Chinese patients with congenital dysfibrinogenemia.
Zhou J et al.
Blood Cells, Molecules & Diseases, 2015
Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management.
Casini A et al.
Journal of Thrombosis and Haemostasis : Jth, 2015
Natural history of patients with congenital dysfibrinogenemia.
Casini A et al.
Blood, 2015
Congenital fibrinogen disorders: an update.
de Moerloose P et al.
Seminars in Thrombosis and Hemostasis, 2013
Clinical phenotype, laboratory features and genotype of 35 patients with heritable dysfibrinogenaemia.
Shapiro SE et al.
British Journal of Haematology, 2013