Associated Papers
Congenital fibrinogen disorders: Strengthening genotype-phenotype correlations through novel genetic diagnostic tools.
Ramanan R et al.
British Journal of Haematology, 2023
Novel variant fibrinogen γp.C352R produced hypodysfibrinogenemia leading to a bleeding episode and failure of infertility treatment.
Yoda M et al.
International Journal of Hematology, 2021
Mutations Causing Mild or No Structural Damage in Interfaces of Multimerization of the Fibrinogen γ-Module More Likely Confer Negative Dominant Behaviors.
Bellacchio E
International Journal of Molecular Sciences, 2020
Hereditary Hypofibrinogenemia with Hepatic Storage.
Asselta R et al.
International Journal of Molecular Sciences, 2020
Can the phenotype of inherited fibrinogen disorders be predicted?
Casini A et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016
Fibrinogen storage disease in a Chinese boy with de novo fibrinogen Aguadilla mutation: Incomplete response to carbamazepine and ursodeoxycholic acid.
Zhang MH et al.
Bmc Gastroenterology, 2016
Hypofibrinogenemia and liver disease: a new case of Aguadilla fibrinogen and review of the literature.
Casini A et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2015
Congenital fibrinogen disorders: an update.
de Moerloose P et al.
Seminars in Thrombosis and Hemostasis, 2013
Treatment of congenital fibrinogen disorders.
de Moerloose P et al.
Expert Opinion on Biological Therapy, 2008
Molecular mechanisms accounting for fibrinogen deficiency: from large deletions to intracellular retention of misfolded proteins.
Vu D et al.
Journal of Thrombosis and Haemostasis : Jth, 2007
Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations.
Neerman-Arbez M et al.
Human Mutation, 2007
Severe liver disease in early childhood due to fibrinogen storage and de novo gamma375Arg-->Trp gene mutation.
Francalanci P et al.
The Journal of Pediatrics, 2006
Molecular basis of fibrinogen deficiency.
Neerman-Arbez M
Pathophysiology of Haemostasis and Thrombosis, 2006
Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the gamma chain globular domain impairing fibrinogen secretion.
Vu D et al.
Journal of Medical Genetics, 2005