361 related articles for article (PubMed ID: 17393016)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family.
Levrat E; Aboukhamis I; de Moerloose P; Farho J; Chamaa S; Reber G; Fort A; Neerman-Arbez M
Blood Coagul Fibrinolysis; 2011 Mar; 22(2):148-50. PubMed ID: 21245743
[TBL] [Abstract][Full Text] [Related]
8. Identification and functional characterization of a novel nonsense mutation in FGA accounting for congenital afibrinogenemia in six Egyptian patients.
Abdel Wahab M; de Moerloose P; Fish RJ; Neerman-Arbez M
Blood Coagul Fibrinolysis; 2010 Mar; 21(2):164-7. PubMed ID: 20051841
[TBL] [Abstract][Full Text] [Related]
9. A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream.
Robert-Ebadi H; de Moerloose P; El Khorassani M; El Khattab M; Neerman-Arbez M
Blood Coagul Fibrinolysis; 2009 Jul; 20(5):385-7. PubMed ID: 19417632
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Rare inherited disorders of fibrinogen.
Acharya SS; Dimichele DM
Haemophilia; 2008 Nov; 14(6):1151-8. PubMed ID: 19141154
[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. Clinical and biological features of 3 cases of hypofibrinogenemia associated with three different mutations (gamma Ala341Thr, Bbeta Tyr326Cys and Aalpha Asp496Asn).
Hanss M; Chevreaud C; French P; Négrier C; de Mazancourt P
Thromb Haemost; 2007 Sep; 98(3):689-91. PubMed ID: 17849064
[No Abstract] [Full Text] [Related]
14. [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]
15. 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]
16. Afibrinogenemia resulting from homozygous nonsense mutation in A alpha chain gene associated with multiple thrombotic episodes.
Simsek I; de Mazancourt P; Horellou MH; Erdem H; Pay S; Dinc A; Samama MM
Blood Coagul Fibrinolysis; 2008 Apr; 19(3):247-53. PubMed ID: 18388508
[TBL] [Abstract][Full Text] [Related]
17. 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]
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. [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]
20. Molecular basis of quantitative fibrinogen disorders in 27 patients from India.
Sumitha E; Jayandharan GR; Arora N; Abraham A; David S; Devi GS; Shenbagapriya P; Nair SC; George B; Mathews V; Chandy M; Viswabandya A; Srivastava A
Haemophilia; 2013 Jul; 19(4):611-8. PubMed ID: 23560673
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]