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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.
Congenital fibrinogen disorders.
de Moerloose P, Neerman-Arbez M. de Moerloose P, et al. Semin Thromb Hemost. 2009 Jun;35(4):356-66. doi: 10.1055/s-0029-1225758. Epub 2009 Jul 13. Semin Thromb Hemost. 2009. PMID: 19598064 Review.
Although the number of cases studied and identified mutations are already quite substantial, the collection and comparison of molecular, biochemical, and clinical data will continue to yield valuable information on the development and course of these diseases, as well as o …
Although the number of cases studied and identified mutations are already quite substantial, the collection and comparison of molecular, bio …
Diagnosis of congenital fibrinogen disorders.
Lebreton A, Casini A. Lebreton A, et al. Ann Biol Clin (Paris). 2016 Aug 1;74(4):405-12. doi: 10.1684/abc.2016.1167. Ann Biol Clin (Paris). 2016. PMID: 27492693 Free article. Review. English.
A genetic exploration permits to confirm the diagnosis and may enhance the prediction of the patient's phenotype. Homozygous or composite heterozygous null mutations are most often responsible for afibrinogenemia while hypofibrinogenemic patients are mainly heterozygous ca …
A genetic exploration permits to confirm the diagnosis and may enhance the prediction of the patient's phenotype. Homozygous or compo …
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.
Thromboembolism in patients with congenital afibrinogenaemia. Long-term observational data and systematic review.
Nagler M, Kremer Hovinga JA, Alberio L, Peter-Salonen K, von Tengg-Kobligk H, Lottaz D, Neerman-Arbez M, Lämmle B. Nagler M, et al. Thromb Haemost. 2016 Sep 27;116(4):722-32. doi: 10.1160/TH16-02-0082. Epub 2016 Jul 7. Thromb Haemost. 2016. PMID: 27384135 Review.
It was our objective to report on the clinical observations and laboratory data contributing to the understanding of the frequency, physiopathology, prognosis and treatment of CA. We observed the long-term clinical course and laboratory data in a cohort of four pati …
It was our objective to report on the clinical observations and laboratory data contributing to the understanding of the frequency, physiopa …
Can the phenotype of inherited fibrinogen disorders be predicted?
Casini A, de Moerloose P. Casini A, et al. Haemophilia. 2016 Sep;22(5):667-75. doi: 10.1111/hae.12967. Epub 2016 Jun 13. Haemophilia. 2016. PMID: 27293018 Review.
In addition to bleeding, unexpected thrombosis, spontaneous spleen ruptures, painful bone cysts and intrahepatic inclusions can complicate the clinical course of patients with quantitative fibrinogen disorders. Clinical manifestations of dysfibrinogenaemia include absence …
In addition to bleeding, unexpected thrombosis, spontaneous spleen ruptures, painful bone cysts and intrahepatic inclusions can complicate t …
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 …
Congenital hypofibrinogenemia in pregnancy: report of two cases and review of the literature.
Frenkel E, Duksin C, Herman A, Sherman DJ. Frenkel E, et al. Obstet Gynecol Surv. 2004 Nov;59(11):775-9. doi: 10.1097/01.ogx.0000143774.04144.b9. Obstet Gynecol Surv. 2004. PMID: 15502629 Review.
Two new cases of congenital hypofibrinogenemia in pregnancy are reported detailing their obstetric course and management. The relevant obstetric and hematologic literature is reviewed, including previous case reports and studies concerning the mechanisms of pregnancy compl …
Two new cases of congenital hypofibrinogenemia in pregnancy are reported detailing their obstetric course and management. The relevan …
Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs.
Asselta R, Duga S, Spena S, Santagostino E, Peyvandi F, Piseddu G, Targhetta R, Malcovati M, Mannucci PM, Tenchini ML. Asselta R, et al. Blood. 2001 Dec 15;98(13):3685-92. doi: 10.1182/blood.v98.13.3685. Blood. 2001. PMID: 11739173 Free article.
All mutations, localized within the first 4 exons of the A alpha-chain gene, were null mutations predicted to produce severely truncated A alpha-chains because of the presence of premature termination codons. ...
All mutations, localized within the first 4 exons of the A alpha-chain gene, were null mutations predicted to produce severely trunca …
Delayed-type hypersensitivity skin reactions in congenital afibrinogenemia lack fibrin deposition and induration.
Colvin RB, Mosesson MW, Dvorak HF. Colvin RB, et al. J Clin Invest. 1979 Jun;63(6):1302-6. doi: 10.1172/JCI109425. J Clin Invest. 1979. PMID: 447844 Free PMC article.
The eight skin tests in the afibrinogenic subjects lacked induration, although the erythema was similar in size (10-34 mm in diameter), intensity, and time-course to those in normals. Biopsies from the two strongest reactions from the afibrinogenemic subjects showed a typi …
The eight skin tests in the afibrinogenic subjects lacked induration, although the erythema was similar in size (10-34 mm in diameter), inte …
21 results