Associated Papers
Congenital Fibrinogen Deficiencies: Not So Rare.
Couzens A et al.
Hamostaseologie, 2025
Pathogenic Mechanisms in Congenital Afibrinogenemia: A Systematic Review of Genetic Variants.
Li Y et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025
Congenital fibrinogen disorders: a retrospective clinical and genetic analysis of the Prospective Rare Bleeding Disorders Database.
Mohsenian S et al.
Blood Advances, 2024
Congenital fibrinogen disorders: Strengthening genotype-phenotype correlations through novel genetic diagnostic tools.
Ramanan R et al.
British Journal of Haematology, 2023
Dysfibrinogenemia-Potential Impact of Genotype on Thrombosis or Bleeding.
Bor MV et al.
Seminars in Thrombosis and Hemostasis, 2022
Afibrinogenemia with two compound heterozygous mutations in FGA gene.
Feugray G et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021
Pseudohomozygous dysfibrinogenemia.
Peck RC et al.
Research and Practice in Thrombosis and Haemostasis, 2021
Identification of a novel mutation in congenital afibrinogenemia in Iranian patients.
Nojehdeh ST et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2021
Mutational Epidemiology of Congenital Fibrinogen Disorders.
Casini A et al.
Thrombosis and Haemostasis, 2018
Identification and characterization of novel mutations implicated in congenital fibrinogen disorders.
Smith N et al.
Research and Practice in Thrombosis and Haemostasis, 2018
Human Fibrinogen: Molecular and Genetic Aspects of Congenital Disorders.
Tiscia GL et al.
International Journal of Molecular Sciences, 2018
Combined life-threatening thromboses and hemorrhages in a patient with afibrinogenemia and antithrombin deficiency.
Le Quellec S et al.
Thrombosis Journal, 2018
Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains.
Paraboschi EM et al.
International Journal of Molecular Sciences, 2017
Fibrinogen Mahdia: A congenitally abnormal fibrinogen characterized by defective fibrin polymerization.
Amri Y et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2017
Congenital hypofibrinogenemia associated with novel homozygous fibrinogen Aα and heterozygous Bβ chain mutations.
Castaman G et al.
Thrombosis Research, 2015
Congenital fibrinogen disorders: an update.
de Moerloose P et al.
Seminars in Thrombosis and Hemostasis, 2013
[Genotype and function analyses of four inherited dysfibrinogenemia pedigree caused by Arg16 amino acid substitution in fibrinogen Aα chain].
Jiang LL et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2012
Hypodysfibrinogenemia causing mild bleeding and thrombotic complications in a compound heterozygote of AalphaIVS4+1G>T mutation and Aalpha4841delC truncation (Aalpha(Perth)).
Jayo A et al.
Thrombosis and Haemostasis, 2009
Identification of a novel splicing mutation in the fibrinogen Aalpha chain gene leading to hypofibrinogenaemia in a Chinese pedigree.
Chen H et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2009
Treatment of congenital fibrinogen disorders.
de Moerloose P et al.
Expert Opinion on Biological Therapy, 2008
Identification of three FGA mutations in two Chinese families with congenital afibrinogenaemia.
Fang Y et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2006
The molecular basis of quantitative fibrinogen disorders.
Asselta R et al.
Journal of Thrombosis and Haemostasis : Jth, 2006
Molecular basis of fibrinogen deficiency.
Neerman-Arbez M
Pathophysiology of Haemostasis and Thrombosis, 2006
Severe hypodysfibrinogenemia in compound heterozygotes of the fibrinogen AalphaIVS4 + 1G>T mutation and an AalphaGln328 truncation (fibrinogen Keokuk).
Lefebvre P et al.
Blood, 2004
Outcome of donor splice site mutations accounting for congenital afibrinogenemia reflects order of intron removal in the fibrinogen alpha gene (FGA).
Attanasio C et al.
Blood, 2003
Identification of simultaneous mutation of fibrinogen alpha chain and protein C genes in a Japanese kindred.
Watanabe K et al.
British Journal of Haematology, 2003
Rare coagulation deficiencies.
Peyvandi F et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2002
Autosomal recessive deficiencies of coagulation factors.
Peyvandi F et al.
Reviews in Clinical and Experimental Hematology, 2001
Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G-->T.
Attanasio C et al.
Blood, 2001
Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes.
Neerman-Arbez M et al.
Human Genetics, 2001
Fibrinogen gene mutations accounting for congenital afibrinogenemia.
Neerman-Arbez M
Annals of the New York Academy of Sciences, 2001
Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia.
Neerman-Arbez M et al.
Blood, 2000