Associated Papers
Clinical and Genetic Characterization of 51 Patients with Congenital Fibrinogen Disorders from China.
Cai Y et al.
Thrombosis and Haemostasis, 2025
Dysfibrinogenemia and hypofibrinogenemia - Spectrum of pathogenic variants in Slovak patients.
Jaraskova D et al.
Biomedical Papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia, 2025
Genetic mutations associated with congenital fibrinogen disorders: global distribution and clinical outcomes.
Nóbrega T et al.
Journal of Thrombosis and Thrombolysis, 2025
Congenital Fibrinogen Deficiencies: Not So Rare.
Couzens A et al.
Hamostaseologie, 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
Diagnostic value of clot formation parameters determined by rotational thromboelastometry in 63 patients with congenital dysfibrinogenemia.
Simurda T et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2024
Congenital dysfibrinogenemia misdiagnosed and inappropriately treated as acute fatty liver in pregnancy: A case report and review of literature.
Jia Y et al.
World Journal of Clinical Cases, 2022
Mutations Accounting for Congenital Fibrinogen Disorders: An Update.
Richard M et al.
Seminars in Thrombosis and Hemostasis, 2022
Misdiagnosis of a patient with congenital dysfibrinogenemia: A case report and literature review.
Chen X et al.
Journal of Clinical Laboratory Analysis, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
Clinical and molecular characterization of Iranian patients with congenital fibrinogen disorders.
Mohsenian S et al.
Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2021
Pseudohomozygous dysfibrinogenemia.
Peck RC et al.
Research and Practice in Thrombosis and Haemostasis, 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
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Comparison of clinical phenotype with genetic and laboratory results in 31 patients with congenital dysfibrinogenemia in northern Slovakia.
Simurda T et al.
International Journal of Hematology, 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
Abnormal fibrinogen with an Aα 16Arg → Cys substitution is associated with multiple cerebral infarctions.
Luo M et al.
Journal of Thrombosis and Thrombolysis, 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
Three cases of congenital dysfibrinogenemia in unrelated Chinese families: heterozygous missense mutation in fibrinogen alpha chain Argl6His.
Luo M et al.
Medicine, 2016
Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management.
Casini A et al.
Journal of Thrombosis and Haemostasis : Jth, 2015
Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.
Dasari S et al.
Journal of Proteome Research, 2014
[Clinical and genetic analysis of 8 Chinese pedigrees with inherited dysfibrinogenemia].
Jiang M et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2014
Successful living-related kidney transplantation in a boy with inherited dysfibrinogenemia.
Imamura H et al.
Pediatric Transplantation, 2013
Treatment of congenital fibrinogen disorders.
de Moerloose P et al.
Expert Opinion on Biological Therapy, 2008
Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations.
Neerman-Arbez M et al.
Human Mutation, 2007
Molecular basis of fibrinogen deficiency.
Neerman-Arbez M
Pathophysiology of Haemostasis and Thrombosis, 2006