Results 81 to 90 of about 1,319 (189)

Afibrinogenemia [PDF]

, 2020
Abdulmajid Bawazeer, Daniel Bell, Candace Moore   +2 more
openaire   +2 more sources

Fibrinogen deficiency in a dog - a case report

BMC Veterinary Research, 2017
Background Among coagulation disorders, primary fibrinogen deficiency is very rare in dogs. It is divided into hypofibrinogenemia, afibrinogenemia and dysfibrinogenemia. Afibrinogenemia has been described in three dogs.
Franck Jolivet, Armelle Diquélou, Catherine Trumel, Simon Privat, Olivier Dossin   +4 more
doaj   +1 more source

Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia

Haematologica, 2002
BACKGROUND AND OBJECTIVES: Congenital afibrinogenemia is a rare coagulation disorder whose molecular basis is still poorly characterized. Most mutations have been identified in the fibrinogen Aalpha- and gamma-chain genes, whereas only two missense ...
R Asselta, S Spena, S Duga, F Peyvandi, M Malcovati, PM Mannucci, ML Tenchini   +6 more
doaj  

Publication Only

HemaSphere, Volume 9, Issue S1, June 2025.
wiley   +1 more source

Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family

, 2003
Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by the complete absence of detectable fibrinogen. We previously identified the first causative mutations for this disease, homozygous deletions of approximately 11 kb of the ...
Abu-Libdeh, Bassam, Morris, Michael Andréw, Bouchardy, Isabelle, Neerman Arbez, Marguerite, Vu, Dung   +4 more
core   +1 more source

Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia

, 2005
Congenital afibrinogenemia is a rare bleeding disorder characterized by the absence in circulation of fibrinogen, a hexamer composed of two sets of three polypeptides (Aalpha, Bbeta and gamma). Each polypeptide is encoded by a distinct gene, FGA, FGB and
Corinne Di Sanza, Paolo Meda, Di Sanza, Corinne, Philippe de Moerloose, Marguerite Neerman-Arbez, Neerman Arbez, Marguerite, Vu, Dung, Meda, Paolo, Holger Scheib, Caille, Dorothee, Dorothée Caille, De Moerloose, Philippe, Dung Vu, Scheib, Holger   +13 more
core   +1 more source

Fibrinogen gene mutations accounting for congenital afibrinogenemia

, 2001
This article reviews recent progress made in understanding the molecular basis of congenital afibrinogenemia, an autosomal recessive coagulation disorder characterized by the complete absence of detectable fibrinogen.
Neerman Arbez, Marguerite
core   +1 more source

Management of Young and Ageing Women with Afibrinogenemia and Hypofibrinogenemia

Congenital afibrinogenemia and hypofibrinogenemia are rare hereditary coagulation disorders characterized by the absence or deficiency of fibrinogen.
De Moerloose, Philippe, Casini, Alessandro   +1 more
core   +1 more source

Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia

, 2000
Congenital afibrinogenemia is a rare, autosomal, recessive disorder characterized by the complete absence of detectable fibrinogen. We previously identified the first causative mutations in a nonconsanguineous Swiss family; the 4 affected persons have ...
Bridel, C., Laubriat-Bianchin, M., Claeyssens, S., Neerman Arbez, Marguerite, Rossier, Colette, Peerlinck, K., Honsberger, A., Antonarakis, Stylianos, Dieval, J., Schonborner, A., De Moerloose, Philippe, Morris, Michael Andréw, d'Oiron, R., Di Michele, D., Dreyfus, M.   +14 more
core   +1 more source

A Rare Complication of Congenital Afibrinogenemia: Bone Cysts

Turkish Journal of Hematology, 2017
Ali Fettah, Dilek Gürlek Gökçebay, Vildan Çulha, Neşe Yaralı, Bahattin Tunç, Namık Özbek   +5 more
doaj   +1 more source