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How I treat quantitative fibrinogen disorders.
Casini A. Casini A. Blood. 2025 Feb 20;145(8):801-810. doi: 10.1182/blood.2024025712. Blood. 2025. PMID: 39700501 Review.
Quantitative fibrinogen disorders, including afibrinogenemia and hypofibrinogenemia, are defined by the complete absence or reduction of fibrinogen, respectively. ...The bleeding phenotype varies in accordance with fibrinogen levels, ranging generally from frequent and oft …
Quantitative fibrinogen disorders, including afibrinogenemia and hypofibrinogenemia, are defined by the complete absence or reduction …
Congenital fibrinogen disorders: a retrospective clinical and genetic analysis of the Prospective Rare Bleeding Disorders Database.
Mohsenian S, Palla R, Menegatti M, Cairo A, Lecchi A, Casini A, Neerman-Arbez M, Asselta R, Scardo S, Siboni SM, Blatny J, Zapletal O, Schved JF, Giansily-Blaizot M, Halimeh S, Daoud MA, Platokouki H, Pergantou H, Schutgens REG, Van Haaften-Spoor M, Brons P, Laros-van Gorkom B, Van Pinxten E, Borhany M, Fatima N, Mikovic D, Saracevic M, Özdemir GN, Ay Y, Makris M, Lockley C, Mumford A, Harvey A, Austin S, Shapiro A, Williamson A, McGuinn C, Goldberg I, De Moerloose P, Peyvandi F. Mohsenian S, et al. Blood Adv. 2024 Mar 26;8(6):1392-1404. doi: 10.1182/bloodadvances.2023012186. Blood Adv. 2024. PMID: 38286442 Free PMC article.
A total of 166 CFD cases from 16 countries were included, of whom 123 (30 afibrinogenemia, 33 hypofibrinogenemia, 55 dysfibrinogenemia, and 5 hypodysfibrinogenemia) were well characterized. ...
A total of 166 CFD cases from 16 countries were included, of whom 123 (30 afibrinogenemia, 33 hypofibrinogenemia, 55 dysfibrinogenemi …
One Hundred Years of Congenital Fibrinogen Disorders.
Casini A, Moerloose P, Neerman-Arbez M. Casini A, et al. Semin Thromb Hemost. 2022 Nov;48(8):880-888. doi: 10.1055/s-0042-1756187. Epub 2022 Sep 2. Semin Thromb Hemost. 2022. PMID: 36055263 Review.
From the first clinical description of afibrinogenemia in 1920, many major achievements have contributed to a better understanding of these complex disorders. ...In this review, we describe the major advances that have characterized 100 years of congenital fibrinogen disor …
From the first clinical description of afibrinogenemia in 1920, many major achievements have contributed to a better understanding of …
Management of Young and Ageing Women with Afibrinogenemia and Hypofibrinogenemia.
Casini A, de Moerloose P. Casini A, et al. Hamostaseologie. 2025 Oct;45(5):390-395. doi: 10.1055/a-2568-1255. Epub 2025 May 27. Hamostaseologie. 2025. PMID: 40425170 Free article. Review.
Congenital afibrinogenemia and hypofibrinogenemia are rare hereditary coagulation disorders characterized by the absence or deficiency of fibrinogen. ...This review synthesizes current findings and provides practical recommendations to guide the care of young and ageing wo …
Congenital afibrinogenemia and hypofibrinogenemia are rare hereditary coagulation disorders characterized by the absence or deficienc …
Heterogeneity of congenital afibrinogenemia, from epidemiology to clinical consequences and management.
Casini A, Neerman-Arbez M, de Moerloose P. Casini A, et al. Blood Rev. 2021 Jul;48:100793. doi: 10.1016/j.blre.2020.100793. Epub 2020 Dec 26. Blood Rev. 2021. PMID: 33419567 Free article. Review.
Fibrinogen is a complex protein playing a major role in coagulation. Congenital afibrinogenemia, characterized by the complete absence of fibrinogen, is associated with major hemostatic defects. ...The consequences for patients with afibrinogenemia still need to be …
Fibrinogen is a complex protein playing a major role in coagulation. Congenital afibrinogenemia, characterized by the complete absenc …
Management of pregnancy and delivery in congenital fibrinogen disorders: communication from the ISTH SSC Subcommittee on Factor XIII and Fibrinogen.
Casini A, Abdul Kadir R, Abdelwahab M, Manco-Johnson MJ, Raut S, Ross C, de Moerloose P, Santoro C, Acharya S. Casini A, et al. J Thromb Haemost. 2024 May;22(5):1516-1521. doi: 10.1016/j.jtha.2024.01.008. Epub 2024 Jan 22. J Thromb Haemost. 2024. PMID: 38266678 Free article. Review.
The spectrum of molecular anomalies is broad, leading to several subtypes of fibrinogen disorders (ie, afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia). Pregnancy in women with CFDs is a high-risk clinical situation, with an increased tend …
The spectrum of molecular anomalies is broad, leading to several subtypes of fibrinogen disorders (ie, afibrinogenemia, hypofibrinoge …
Clinical, Laboratory, and Molecular Aspects of Congenital Fibrinogen Disorders.
Casini A, Moerloose P, Neerman-Arbez M. Casini A, et al. Semin Thromb Hemost. 2025 Mar;51(2):103-110. doi: 10.1055/s-0044-1788898. Epub 2024 Aug 16. Semin Thromb Hemost. 2025. PMID: 39151903 Review.
Congenital fibrinogen disorders (CFDs) include afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia. The fibrinogen levels, the clinical features, and the genotype define several sub-types, each with specific biological and clinical issues. ...
Congenital fibrinogen disorders (CFDs) include afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia. The …
Mutations Accounting for Congenital Fibrinogen Disorders: An Update.
Richard M, Celeny D, Neerman-Arbez M. Richard M, et al. Semin Thromb Hemost. 2022 Nov;48(8):889-903. doi: 10.1055/s-0041-1742170. Epub 2022 Jan 24. Semin Thromb Hemost. 2022. PMID: 35073585
Congenital fibrinogen disorders (CFDs) are divided into qualitative deficiencies (dysfibrinogenemia, hypodysfibrinogenemia) in which the mutant fibrinogen molecule is present in the circulation and quantitative deficiencies (afibrinogenemia, hypofibrinogenemia) with no mut …
Congenital fibrinogen disorders (CFDs) are divided into qualitative deficiencies (dysfibrinogenemia, hypodysfibrinogenemia) in which the mut …
Pathogenic Mechanisms in Congenital Afibrinogenemia: A Systematic Review of Genetic Variants.
Li Y, Meng Z, Qing W, Yi P. Li Y, et al. Haemophilia. 2025 May;31(3):353-364. doi: 10.1111/hae.70026. Epub 2025 Mar 18. Haemophilia. 2025. PMID: 40099427
AIM: To deepen our understanding of the pathogenic mechanisms of afibrinogenemia through the study of natural variants. METHODS: We conducted a literature review of all publications up to 2024 that report cases of afibrinogenemia with confirmed genetic diagnoses, fo …
AIM: To deepen our understanding of the pathogenic mechanisms of afibrinogenemia through the study of natural variants. METHODS: We c …
Clinical, biological, and genetic features in an afibrinogenemia patient series in Algeria.
Hadjali-Saichi S, de Mazancourt P, Tapon-Bretaudière J, Mirault T, Guenounou K, Frigaa I, Fischer AM, Chafa O, Helley D. Hadjali-Saichi S, et al. Haemophilia. 2022 Sep;28(5):822-831. doi: 10.1111/hae.14579. Epub 2022 Apr 30. Haemophilia. 2022. PMID: 35488806 Free PMC article.
INTRODUCTION: The incidence of afibrinogenemia had not been previously reported in Algeria. Afibrinogenemia patients are prone to both haemorrhagic and thrombotic complications. Predictive markers of thrombosis in afibrinogenemia patients are not existent. AI …
INTRODUCTION: The incidence of afibrinogenemia had not been previously reported in Algeria. Afibrinogenemia patients are prone …
35 results