156 related articles for article (PubMed ID: 15489905)
1. Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen Aalpha-chain gene.
Spena S; Duga S; Asselta R; Peyvandi F; Mahasandana C; Malcovati M; Tenchini ML
Eur J Hum Genet; 2004 Nov; 12(11):891-8. PubMed ID: 15489905
[TBL] [Abstract][Full Text] [Related]
2. Maternal chromosome 4 heterodisomy/isodisomy and Bβ chain Trp323X mutation resulting in severe hypodysfibrinogenaemia.
Ding Q; Ouyang Q; Xi X; Wang X; Shen Y; Wang H
Thromb Haemost; 2012 Oct; 108(4):654-61. PubMed ID: 22955321
[TBL] [Abstract][Full Text] [Related]
3. The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster.
Neerman-Arbez M; Antonarakis SE; Honsberger A; Morris MA
Eur J Hum Genet; 1999 Dec; 7(8):897-902. PubMed ID: 10602365
[TBL] [Abstract][Full Text] [Related]
4. Molecular basis of congenital afibrinogenaemia in a Dutch family.
Remijn JA; van Wijk R; Nieuwenhuis HK; de Groot PG; van Solinge WW
Blood Coagul Fibrinolysis; 2003 Apr; 14(3):299-302. PubMed ID: 12695755
[TBL] [Abstract][Full Text] [Related]
5. Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia.
Asselta R; Spena S; Duga S; Peyvandi F; Malcovati M; Mannucci PM; Tenchini ML
Haematologica; 2002 Aug; 87(8):855-9. PubMed ID: 12161363
[TBL] [Abstract][Full Text] [Related]
6. Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia.
Neerman-Arbez M; de Moerloose P; Bridel C; Honsberger A; Schönbörner A; Rossier C; Peerlinck K; Claeyssens S; Di Michele D; d'Oiron R; Dreyfus M; Laubriat-Bianchin M; Dieval J; Antonarakis SE; Morris MA
Blood; 2000 Jul; 96(1):149-52. PubMed ID: 10891444
[TBL] [Abstract][Full Text] [Related]
7. Identification of three FGA mutations in two Chinese families with congenital afibrinogenaemia.
Fang Y; Dai BT; Wang XF; Fu QH; Dai J; Xie F; Cai XH; Wang HL; Wang ZY
Haemophilia; 2006 Nov; 12(6):615-20. PubMed ID: 17083511
[TBL] [Abstract][Full Text] [Related]
8. The molecular basis of inherited afibrinogenaemia.
Neerman-Arbez M
Thromb Haemost; 2001 Jul; 86(1):154-63. PubMed ID: 11487003
[TBL] [Abstract][Full Text] [Related]
9. Congenital afibrinogenemia: Identification and characterization of two novel homozygous fibrinogen Aα and Bβ chain mutations in two Tunisian families.
Amri Y; Toumi Nel H; Hadj Fredj S; de Moerloose P
Thromb Res; 2016 Jul; 143():11-6. PubMed ID: 27164460
[TBL] [Abstract][Full Text] [Related]
10. Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion.
Duga S; Asselta R; Santagostino E; Zeinali S; Simonic T; Malcovati M; Mannucci PM; Tenchini ML
Blood; 2000 Feb; 95(4):1336-41. PubMed ID: 10666208
[TBL] [Abstract][Full Text] [Related]
11. A novel nonsense mutation in the FGA gene in a Chinese family with congenital afibrinogenaemia.
Wu S; Wang Z; Dong N; Bai X; Ruan C
Blood Coagul Fibrinolysis; 2005 Apr; 16(3):221-6. PubMed ID: 15795544
[TBL] [Abstract][Full Text] [Related]
12. Pseudo-exon activation caused by a deep-intronic mutation in the fibrinogen gamma-chain gene as a novel mechanism for congenital afibrinogenaemia.
Spena S; Asselta R; Platé M; Castaman G; Duga S; Tenchini ML
Br J Haematol; 2007 Oct; 139(1):128-32. PubMed ID: 17854317
[TBL] [Abstract][Full Text] [Related]
13. Fibrinogen gene mutations accounting for congenital afibrinogenemia.
Neerman-Arbez M
Ann N Y Acad Sci; 2001; 936():496-508. PubMed ID: 11460507
[TBL] [Abstract][Full Text] [Related]
14. Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency.
Asselta R; Platè M; Robusto M; Borhany M; Guella I; Soldà G; Afrasiabi A; Menegatti M; Shamsi T; Peyvandi F; Duga S
Thromb Haemost; 2015 Mar; 113(3):567-76. PubMed ID: 25427968
[TBL] [Abstract][Full Text] [Related]
15. Afibrinogenemia: first identification of a splicing mutation in the fibrinogen gamma chain gene leading to a major gamma chain truncation.
Asselta R; Duga S; Simonic T; Malcovati M; Santagostino E; Giangrande PL; Mannucci PM; Tenchini ML
Blood; 2000 Oct; 96(7):2496-500. PubMed ID: 11001902
[TBL] [Abstract][Full Text] [Related]
16. The molecular basis of quantitative fibrinogen disorders.
Asselta R; Duga S; Tenchini ML
J Thromb Haemost; 2006 Oct; 4(10):2115-29. PubMed ID: 16999847
[TBL] [Abstract][Full Text] [Related]
17. Congenital hypofibrinogenemia associated with novel homozygous fibrinogen Aα and heterozygous Bβ chain mutations.
Castaman G; Rimoldi V; Giacomelli SH; Duga S
Thromb Res; 2015 Jul; 136(1):144-7. PubMed ID: 25981141
[TBL] [Abstract][Full Text] [Related]
18. Congenital afibrinogenemia: first identification of splicing mutations in the fibrinogen Bbeta-chain gene causing activation of cryptic splice sites.
Spena S; Duga S; Asselta R; Malcovati M; Peyvandi F; Tenchini ML
Blood; 2002 Dec; 100(13):4478-84. PubMed ID: 12393540
[TBL] [Abstract][Full Text] [Related]
19. Deletion of the fibrinogen [correction of fibrogen] alpha-chain gene (FGA) causes congenital afibrogenemia.
Neerman-Arbez M; Honsberger A; Antonarakis SE; Morris MA
J Clin Invest; 1999 Jan; 103(2):215-8. PubMed ID: 9916133
[TBL] [Abstract][Full Text] [Related]
20. In vitro rescue of FGA deletion by lentiviral transduction of an afibrinogenemic patient's hepatocytes.
Stroka D; Keogh A; Vu D; Fort A; Stoffel MH; Kühni-Boghenbor K; Furer C; Banz V; Demarmels Biasiutti F; Lämmle B; Candinas D; Neerman-Arbez M
J Thromb Haemost; 2014 Nov; 12(11):1874-9. PubMed ID: 25163824
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]