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Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management.
Simurda T, Asselta R, Zolkova J, Brunclikova M, Dobrotova M, Kolkova Z, Loderer D, Skornova I, Hudecek J, Lasabova Z, Stasko J, Kubisz P. Simurda T, et al. Among authors: asselta r. Diagnostics (Basel). 2021 Nov 19;11(11):2140. doi: 10.3390/diagnostics11112140. Diagnostics (Basel). 2021. PMID: 34829490 Free PMC article. Review.
Congenital hypofibrinogenemia associated with a novel heterozygous nonsense mutation in the globular C-terminal domain of the γ-chain (p.Glu275Stop).
Simurda T, Caccia S, Asselta R, Zolkova J, Stasko J, Skornova I, Snahnicanova Z, Loderer D, Lasabova Z, Kubisz P. Simurda T, et al. Among authors: asselta r. J Thromb Thrombolysis. 2020 Jul;50(1):233-236. doi: 10.1007/s11239-019-01991-x. J Thromb Thrombolysis. 2020. PMID: 31712947 Free article. No abstract available.
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, Brunclikova M, Asselta R, Caccia S, Zolkova J, Kolkova Z, Loderer D, Skornova I, Hudecek J, Lasabova Z, Stasko J, Kubisz P. Simurda T, et al. Among authors: asselta r. Int J Mol Sci. 2020 Jun 29;21(13):4616. doi: 10.3390/ijms21134616. Int J Mol Sci. 2020. PMID: 32610551 Free PMC article. Review.
Hereditary Hypofibrinogenemia with Hepatic Storage.
Asselta R, Paraboschi EM, Duga S. Asselta R, et al. Int J Mol Sci. 2020 Oct 22;21(21):7830. doi: 10.3390/ijms21217830. Int J Mol Sci. 2020. PMID: 33105716 Free PMC article. Review.
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. Among authors: asselta r. Blood Adv. 2024 Mar 26;8(6):1392-1404. doi: 10.1182/bloodadvances.2023012186. Blood Adv. 2024. PMID: 38286442 Free PMC article.
222 results