Results 81 to 90 of about 239,927 (172)

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

PO07 | Liver transplant in a case of congenital afibrinogenemia

Bleeding, Thrombosis and Vascular Biology
Background: Fibrinogen (FBG) is involved in the final steps of coagulation as a precursor of fibrin monomers. Inherited FBG disorders are generally classified as quantitative or qualitative.
doaj   +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

Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia [PDF]

, 2017
Congenital afibrinogenemia is a rare bleeding disorder characterized by the absence in circulation of fibrinogen, a hexamer composed of two sets of three polypeptides (Aα, Bβ and γ).
Caille, Dorothée, Di Sanza, Corinne, Vu, Dung, Neerman-Arbez, Marguerite, de Moerloose, Philippe, Scheib, Holger, Meda, Paolo   +6 more
core  

Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4+1 G→T

, 2001
Our recent studies on the molecular basis of the autosomal recessive disorder congenital afibrinogenemia showed that the most common mutation is a donor splice mutation in FGA intron 4, IVS4 + 1 G-->T, accounting for approximately half of disease alleles.
Attanasio, Catia, De Moerloose, Philippe, Morris, Michael Andréw, Morris, M.A., Neerman Arbez, Marguerite, Attanasio, C., Antonarakis, Stylianos, de Moerloose, P., Neerman-Arbez, M., Antonarakis, S.E.   +9 more
core   +1 more source

Platelet fibrinogen: subcellular localization by means of immunofluorescent studies in normals and in congenital afibrinogenemia.

, 1979
We have studied the site of fibrinogen localization in normal platelets and in the platelets of a patient with congenital afibrinogenemia (CA). The methods employed were: direct immunofluorescence technique (DIT) and indirect immunofluorescence technique
CASONATO, SANDRA, FABRIS, FABRIZIO, GIROLAMI, ANTONIO, BETTERLE, CORRADO   +3 more
core  

A review of congenital heart block [PDF]

, 2003
Congenital heart block is a rare disorder. It has an incidence of about 1 in 22,000 live births. It may be associated with high mortality and morbidity.
Glickstein, J., Buyon, Jill P., Friedman, Deborah M., Duncanson, L.J.   +3 more
core  

A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream

, 2009
Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by complete absence of detectable fibrinogen and bleeding symptoms. Many causative mutations have been described to date in all three fibrinogen genes, most of them in the ...
El Khorassani, M., El Khattab, M., De Moerloose, Philippe, Robert-Ebadi, Helia, Neerman Arbez, Marguerite   +4 more
core   +1 more source

Consanguinity and the risk of congenital heart disease [PDF]

, 2012
Consanguineous unions have been associated with an increased susceptibility to various forms of inherited disease. Although consanguinity is known to contribute to recessive diseases, the potential role of consanguinity in certain common birth defects is
Hudgins, L., Shieh, J.T.C., Bittles, A.H.   +2 more
core  

Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations

, 2007
Fibrinogen is synthesized in hepatocytes in the form of a hexamer composed of two sets of three polypeptides (Aalpha, Bbeta, and gamma). Each polypeptide is encoded by a distinct gene, FGA, FGB, and FGG, all three clustered in a region of 50 kb on 4q31 ...
De Moerloose, Philippe, Philippe de Moerloose, Marguerite Neerman-Arbez, Neerman Arbez, Marguerite   +3 more
core   +1 more source