236 related articles for article (PubMed ID: 29286337)
1. Identification of Two Novel Fibrinogen Bβ Chain Mutations in Two Slovak Families with Quantitative Fibrinogen Disorders.
Simurda T; Zolkova J; Snahnicanova Z; Loderer D; Skornova I; Sokol J; Hudecek J; Stasko J; Lasabova Z; Kubisz P
Int J Mol Sci; 2017 Dec; 19(1):. PubMed ID: 29286337
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. Fibrinogen Mumbai: intracellular retention due to a novel G434D mutation in the Bbeta-chain gene.
Monaldini L; Asselta R; Duga S; Peyvandi F; Ghosh K; Malcovati M; Tenchini ML
Haematologica; 2006 May; 91(5):628-33. PubMed ID: 16670068
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion.
Vu D; Bolton-Maggs PH; Parr JR; Morris MA; de Moerloose P; Neerman-Arbez M
Blood; 2003 Dec; 102(13):4413-5. PubMed ID: 12893758
[TBL] [Abstract][Full Text] [Related]
8. Novel fibrinogen truncation with deletion of Bbeta chain residues 440-461 causes hypofibrinogenaemia.
Homer VM; Brennan SO; Ockelford P; George PM
Thromb Haemost; 2002 Sep; 88(3):427-31. PubMed ID: 12353071
[TBL] [Abstract][Full Text] [Related]
9. A novel fibrinogen Bbeta chain frameshift mutation in a patient with severe congenital hypofibrinogenaemia.
Xu X; Wu J; Zhai Z; Zhou R; Wang X; Wang H; Ding K; Sun Z; Ni H
Thromb Haemost; 2006 Jun; 95(6):931-5. PubMed ID: 16732370
[TBL] [Abstract][Full Text] [Related]
10. Liver histology of an afibrinogenemic patient with the Bbeta-L353R mutation showing no evidence of hepatic endoplasmic reticulum storage disease (ERSD); comparative study in COS-1 cells of the intracellular processing of the Bbeta-L353R fibrinogen vs. the ERSD-associated gamma-G284R mutant.
Duga S; Braidotti P; Asselta R; Maggioni M; Santagostino E; Pellegrini C; Coggi G; Malcovati M; Tenchini ML
J Thromb Haemost; 2005 Apr; 3(4):724-32. PubMed ID: 15842357
[TBL] [Abstract][Full Text] [Related]
11. Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations.
Neerman-Arbez M; de Moerloose P
Hum Mutat; 2007 Jun; 28(6):540-53. PubMed ID: 17295221
[TBL] [Abstract][Full Text] [Related]
12. [Fibrinogen beta chain gene mutation contributes to one congenital afibrinogenemia].
Xu XC; Zhou RF; Wu JS; Fang Y; Wang XF; Zhai ZM; Wang HL
Zhonghua Xue Ye Xue Za Zhi; 2005 Mar; 26(3):137-9. PubMed ID: 15946523
[TBL] [Abstract][Full Text] [Related]
13. Congenital afibrinogenemia: intracellular retention of fibrinogen due to a novel W437G mutation in the fibrinogen Bbeta-chain gene.
Spena S; Asselta R; Duga S; Malcovati M; Peyvandi F; Mannucci PM; Tenchini ML
Biochim Biophys Acta; 2003 Oct; 1639(2):87-94. PubMed ID: 14559115
[TBL] [Abstract][Full Text] [Related]
14. Mutational screening of six afibrinogenemic patients: identification and characterization of four novel molecular defects.
Monaldini L; Asselta R; Duga S; Peyvandi F; Karimi M; Malcovati M; Tenchini ML
Thromb Haemost; 2007 Apr; 97(4):546-51. PubMed ID: 17393016
[TBL] [Abstract][Full Text] [Related]
15. Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia.
Vu D; Di Sanza C; Caille D; de Moerloose P; Scheib H; Meda P; Neerman-Arbez M
Hum Mol Genet; 2005 Nov; 14(21):3271-80. PubMed ID: 16195396
[TBL] [Abstract][Full Text] [Related]
16. Molecular characterization of the first missense mutation in the fibrinogen Aalpha-chain gene identified in a compound heterozygous afibrinogenemic patient.
Platé M; Asselta R; Peyvandi F; Tenchini ML; Duga S
Biochim Biophys Acta; 2007 Jul; 1772(7):781-7. PubMed ID: 17531448
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. [Inherited afibrinogenemia caused by compound heterozygous mutations in the beta beta-chain of fibrinogen].
Fang Y; Wang HL; Wang XF; Fu QH; Wang WB; Xie S; Zhou RF; Dai J; Wang ZY
Zhongguo Shi Yan Xue Ye Xue Za Zhi; 2005 Dec; 13(6):1086-9. PubMed ID: 16403286
[TBL] [Abstract][Full Text] [Related]
19. [Congenital afibrinogenemia associated with a novel nonsense mutation in the FGA gene].
Wu SY; Wang ZY; Dong NZ; Bai X; Ruan CG
Zhonghua Xue Ye Xue Za Zhi; 2005 Mar; 26(3):133-6. PubMed ID: 15946522
[TBL] [Abstract][Full Text] [Related]
20. A case of congenital afibrinogenemia: fibrinogen Hakata, a novel nonsense mutation of the fibrinogen gamma-chain gene.
Iida H; Ishii E; Nakahara M; Urata M; Wakiyama M; Kurihara M; Watanabe K; Kai T; Ihara K; Kinoshita S; Hamasaki N
Thromb Haemost; 2000 Jul; 84(1):49-53. PubMed ID: 10928469
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
