BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

173 related articles for article (PubMed ID: 9916133)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes.
    Neerman-Arbez M; de Moerloose P; Honsberger A; Parlier G; Arnuti B; Biron C; Borg JY; Eber S; Meili E; Peter-Salonen K; Ripoll L; Vervel C; d'Oiron R; Staeger P; Antonarakis SE; Morris MA
    Hum Genet; 2001 Mar; 108(3):237-40. PubMed ID: 11354637
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. [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]  

  • 15. 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]  

  • 16. 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]  

  • 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. Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia.
    Tirefort Y; Alson OR; de Moerloose P; Neerman-Arbez M
    Blood Coagul Fibrinolysis; 2012 Sep; 23(6):556-8. PubMed ID: 22732251
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract.
    Cohen D; Bar-Yosef U; Levy J; Gradstein L; Belfair N; Ofir R; Joshua S; Lifshitz T; Carmi R; Birk OS
    Invest Ophthalmol Vis Sci; 2007 May; 48(5):2208-13. PubMed ID: 17460281
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.