250 related articles for article (PubMed ID: 10666208)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen A alpha-chain gene are not associated with the decay of the mutant mRNAs.
Asselta R; Duga S; Spena S; Santagostino E; Peyvandi F; Piseddu G; Targhetta R; Malcovati M; Mannucci PM; Tenchini ML
Blood; 2001 Dec; 98(13):3685-92. PubMed ID: 11739173
[TBL] [Abstract][Full Text] [Related]
9. Congenital hypofibrinogenemia: characterization of two missense mutations affecting fibrinogen assembly and secretion.
Platè M; Asselta R; Spena S; Spreafico M; Fagoonee S; Peyvandi F; Tenchini ML; Duga S
Blood Cells Mol Dis; 2008; 41(3):292-7. PubMed ID: 18676163
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Genetic Analysis of Afibrinogenemia and Hypofibrinogenemia: Novel Mutations in the FGB Gene in the Turkish Population.
Özkan DT; Sarper N; Akar N
Acta Haematol; 2020; 143(6):529-532. PubMed ID: 32289806
[TBL] [Abstract][Full Text] [Related]
12. 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]
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. Molecular and clinical profile of congenital fibrinogen disorders in Iran, identification of two novel mutations.
Tavasoli B; Safa M; Dorgalaleh A; Ghasemi JB; Rezaei Makhouri F; Rezvani MR; Ahmadi A; Tabibian S; Jazebi M; Baghaipour MR; Zaker F
Int J Lab Hematol; 2020 Oct; 42(5):619-627. PubMed ID: 32639687
[TBL] [Abstract][Full Text] [Related]
15. [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]
16. Identification of a novel mutation in congenital afibrinogenemia in Iranian patients.
Nojehdeh ST; Mojbafan M; Masoodifard M; Amini M; Zeinali S
Blood Coagul Fibrinolysis; 2021 Jul; 32(5):323-327. PubMed ID: 33901106
[TBL] [Abstract][Full Text] [Related]
17. A G-to-A mutation in IVS-3 of the human gamma fibrinogen gene causing afibrinogenemia due to abnormal RNA splicing.
Margaglione M; Santacroce R; Colaizzo D; Seripa D; Vecchione G; Lupone MR; De Lucia D; Fortina P; Grandone E; Perricone C; Di Minno G
Blood; 2000 Oct; 96(7):2501-5. PubMed ID: 11001903
[TBL] [Abstract][Full Text] [Related]
18. Molecular characterization of 7 patients affected by dys- or hypo-dysfibrinogenemia: Identification of a novel mutation in the fibrinogen Bbeta chain causing a gain of glycosylation.
Asselta R; Robusto M; Platé M; Santoro C; Peyvandi F; Duga S
Thromb Res; 2015 Jul; 136(1):168-74. PubMed ID: 26006300
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
