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Page 1
Congenital afibrinogenemia.
al-Mondhiry H, Ehmann WC. al-Mondhiry H, et al. Am J Hematol. 1994 Aug;46(4):343-7. doi: 10.1002/ajh.2830460416. Am J Hematol. 1994. PMID: 8037188 Review.
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.
Congenital afibrinogenemia, characterized by the complete absence of fibrinogen, is associated with major hemostatic defects. Even though the clinical course is unpredictable and can be completely different among patients, severe bleeding is the prominent symptom. ...Indee …
Congenital afibrinogenemia, characterized by the complete absence of fibrinogen, is associated with major hemostatic defects. Even though th …
Congenital hypofibrinogenemia.
Awasthy N, Aggarwal KC, Gupta H, Saluja S. Awasthy N, et al. Indian Pediatr. 2004 Feb;41(2):185-7. Indian Pediatr. 2004. PMID: 15004306 Free article.
Identification of a novel mutation in congenital afibrinogenemia in Iranian patients.
Nojehdeh ST, Mojbafan M, Masoodifard M, Amini M, Zeinali S. Nojehdeh ST, et al. Blood Coagul Fibrinolysis. 2021 Jul 1;32(5):323-327. doi: 10.1097/MBC.0000000000001041. Blood Coagul Fibrinolysis. 2021. PMID: 33901106
Genomic DNA was extracted from whole blood and Sanger sequencing was performed using primers for all exons and exon-intron junctions of FGA, FGB, and FGG genes. Pathogenicity of the variants was predicted using different in-silico tools and was interpreted according to the …
Genomic DNA was extracted from whole blood and Sanger sequencing was performed using primers for all exons and exon-intron junctions of FGA, …
The molecular basis of quantitative fibrinogen disorders.
Asselta R, Duga S, Tenchini ML. Asselta R, et al. J Thromb Haemost. 2006 Oct;4(10):2115-29. doi: 10.1111/j.1538-7836.2006.02094.x. J Thromb Haemost. 2006. PMID: 16999847 Free article. Review.
From the inspection of the mutational spectrum of these disorders, some conclusions can be drawn: (i) genetic defects are scattered throughout the three fibrinogen genes, with only few sites appearing to represent relative mutational hot spots; (ii) several different types of gen …
From the inspection of the mutational spectrum of these disorders, some conclusions can be drawn: (i) genetic defects are scattered througho …
Fibrinogen gene mutations accounting for congenital afibrinogenemia.
Neerman-Arbez M. Neerman-Arbez M. Ann N Y Acad Sci. 2001;936:496-508. doi: 10.1111/j.1749-6632.2001.tb03536.x. Ann N Y Acad Sci. 2001. PMID: 11460507 Review.
In conclusion, the majority of patients have truncating mutations in the FGA gene although, intuitively, all three fibrinogen genes could be predicted to be equally implicated. These results will facilitate molecular diagnosis of the disorder, permit prenatal diagnosis for …
In conclusion, the majority of patients have truncating mutations in the FGA gene although, intuitively, all three fibrinogen genes could be …
Haemorheological profile in congenital afibrinogenemia and in congenital dysfibrinogenemia: A clinical case report.
Caimi G, Raso S, Napolitano M, Hopps E, Lo Presti R, Siragusa S. Caimi G, et al. Clin Hemorheol Microcirc. 2019;73(4):523-530. doi: 10.3233/CH-180542. Clin Hemorheol Microcirc. 2019. PMID: 31306110
Although the inherited quantitative and qualitative disorders of fibrinogen are rare, in the course of time patients may develop complications including episodes of arterial and venous thrombosis. ...
Although the inherited quantitative and qualitative disorders of fibrinogen are rare, in the course of time patients may develop comp …
Medical Management of a Mural Thrombus Inducing Repeated Ischemic Strokes in a Patient with Congenital Afibrinogenemia.
Nishihori M, Araki Y, Suzuki N, Tamura S, Hattori M, Izumi T, Goto S, Yokoyama K, Uda K, Matsushita T, Saito R. Nishihori M, et al. J Stroke Cerebrovasc Dis. 2022 Jul;31(7):106526. doi: 10.1016/j.jstrokecerebrovasdis.2022.106526. Epub 2022 Apr 27. J Stroke Cerebrovasc Dis. 2022. PMID: 35489183
The patient was treated with 100 mg/day of aspirin and 3 g fibrinogen infusion every two weeks. After the one-year course of medication, the mural thrombus gradually decreased, and there were no bleeding or ischemic stroke events. ...
The patient was treated with 100 mg/day of aspirin and 3 g fibrinogen infusion every two weeks. After the one-year course of medicati …
A homozygous duplication of the <I>FGG</i> exon 8-intron 8 junction causes congenital afibrinogenemia. Lessons learned from the study of a large consanguineous Turkish family.
Guipponi M, Masclaux F, Sloan-Béna F, Di Sanza C, Özbek N, Peyvandi F, Menegatti M, Casini A, Malbora B, Neerman-Arbez M. Guipponi M, et al. Haematologica. 2022 May 1;107(5):1064-1071. doi: 10.3324/haematol.2021.278945. Haematologica. 2022. PMID: 34196169 Free PMC article.
Because the mutation duplicates the donor splice site of intron 8, we predicted that the impact of the mutation would be on FGG transcript splicing. ...
Because the mutation duplicates the donor splice site of intron 8, we predicted that the impact of the mutation would be on FGG trans …
28 results