Associated Papers
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
The β-Chain Mutation p.Arg17Stop Impairs Fibrinogen Synthesis and Secretion: A Nonsense Mutation Associated With Hypofibrinogenemia.
Qian C et al.
Journal of Clinical Laboratory Analysis, 2024
Targeted exome analysis in patients with rare bleeding disorders: data from the Rare Bleeding Disorders in the Netherlands study.
Willems SPE et al.
Research and Practice in Thrombosis and Haemostasis, 2024
39076726 (PubMed )
Supplement: mmc2.xlsx › Blad1
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
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.4
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
34355501 (PubMed )
Supplement: JTH-19-2612-s004.xlsx › ALL
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Cochran M et al.
Molecular Genetics & Genomic Medicine, 2021
Genetic Variants in the FGB and FGG Genes Mapping in the Beta and Gamma Nodules of the Fibrinogen Molecule in Congenital Quantitative Fibrinogen Disorders Associated with a Thrombotic Phenotype.
Simurda T et al.
International Journal of Molecular Sciences, 2020
Correction to: Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population.
Naz A et al.
Thrombosis Journal, 2019
Mutational Epidemiology of Congenital Fibrinogen Disorders.
Casini A et al.
Thrombosis and Haemostasis, 2018
FGB mutations leading to congenital quantitative fibrinogen deficiencies: an update and report of four novel mutations.
Casini A et al.
Thrombosis Research, 2014
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
Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion.
Vu D et al.
Blood, 2003
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