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Journal Abstract Search

198 related items for PubMed ID: 19718484

  • 1. Analysis of the structural effects of four novel and a previously known mutations causing factor XI deficiency.
    Spena S, Asselta R, Caccia S, Rimoldi V, Giacomelli SH, Tagliaferri A, Peyvandi F, Castaman G, Duga S.
    Thromb Haemost; 2009 Sep; 102(3):603-6. PubMed ID: 19718484
    [No Abstract] [Full Text] [Related]

  • 2. Factor XI deficiency database: an interactive web database of mutations, phenotypes, and structural analysis tools.
    Saunders RE, O'Connell NM, Lee CA, Perry DJ, Perkins SJ.
    Hum Mutat; 2005 Sep; 26(3):192-8. PubMed ID: 16086308
    [Abstract] [Full Text] [Related]

  • 3. Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect.
    Guella I, Soldà G, Spena S, Asselta R, Ghiotto R, Tenchini ML, Castaman G, Duga S.
    Thromb Haemost; 2008 Mar; 99(3):523-30. PubMed ID: 18327400
    [Abstract] [Full Text] [Related]

  • 4. A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency.
    Bozzao C, Rimoldi V, Asselta R, Landau M, Ghiotto R, Tenchini ML, De Cristofaro R, Castaman G, Duga S.
    FEBS J; 2007 Dec; 274(23):6128-38. PubMed ID: 17971173
    [Abstract] [Full Text] [Related]

  • 5. Coagulation factor XI gene analysis in three factor XI deficient Austrian patients.
    Dossenbach-Glaninger A, Hopmeier P.
    Eur J Haematol; 2006 Apr; 76(4):317-21. PubMed ID: 16519703
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  • 7. Severe factor XI deficiency in the Abruzzo region of Italy is associated to different FXI gene mutations.
    Castaman G, Giacomelli SH, Dragani A, Iuliani O, Duga S, Rodeghiero F.
    Haematologica; 2008 Jun; 93(6):957-8. PubMed ID: 18515884
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  • 10. Four novel FXI gene mutations in three factor XI- deficient patients.
    de Raucourt E, de Mazancourt P, Quélin F.
    Blood Coagul Fibrinolysis; 2008 Apr; 19(3):240-2. PubMed ID: 18388506
    [Abstract] [Full Text] [Related]

  • 11. Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency.
    Quélin F, Mathonnet F, Potentini-Esnault C, Trigui N, Peynet J, Bastenaire B, Guillon L, Bigel ML, Sauger A, Mazurier C, de Mazancourt P.
    Blood Coagul Fibrinolysis; 2006 Jan; 17(1):69-73. PubMed ID: 16607084
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  • 13. Factor XI deficiency: identification of six novel missense mutations (P23L, P69T, C92G, E243D, W497C and E547K).
    Quélin F, François D, d'Oiron R, Guillet B, de Raucourt E, de Mazancourt P.
    Haematologica; 2005 Aug; 90(8):1149-50. PubMed ID: 16079124
    [Abstract] [Full Text] [Related]

  • 14. Severe factor XI deficiency in a Korean woman with a novel missense mutation (Val498Met) and duplication G mutation in exon 13 of the F11 gene.
    Kwon MJ, Kim HJ, Bang SH, Kim SH.
    Blood Coagul Fibrinolysis; 2008 Oct; 19(7):679-83. PubMed ID: 18832909
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  • 15. [The inherited coagulation factor XI deficiency caused by intronic mutation IVS J-4delgttg].
    Xie S, Wang HL, Wang XF, Wu WM, Zhou RF, Wang WB, Hu YQ, Wang ZY.
    Zhonghua Xue Ye Xue Za Zhi; 2005 Mar; 26(3):144-7. PubMed ID: 15946525
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  • 16. Factor XI deficiency in Southern Iran: identification of a novel missense mutation.
    Karimi M, Jafari H, Lahsaeizadeh S, Afrasiabi A, Akbari A, Dehbozorgian J, Ardeshiri R, Guella I, Asselta R, Peyvandi F.
    Ann Hematol; 2009 Apr; 88(4):359-63. PubMed ID: 18758779
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  • 17. Characterization of combined factor VII and factor XI deficiencies.
    Quélin F, De Raucourt E, Mathonnet F, Tétégan M, Peltier JY, De Mazancourt P.
    Haemophilia; 2008 May; 14(3):639-42. PubMed ID: 18248411
    [No Abstract] [Full Text] [Related]

  • 18. Identification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency.
    Tirefort Y, Uhr MR, Neerman-Arbez M, de Moerloose P.
    Blood Coagul Fibrinolysis; 2012 Apr; 23(3):251-2. PubMed ID: 22322133
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  • 19. A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency.
    Soldà G, Asselta R, Ghiotto R, Tenchini ML, Castaman G, Duga S.
    Haematologica; 2005 Dec; 90(12):1716-8. PubMed ID: 16330457
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  • 20. Prospective analysis of factor XI deficiencies in the Marseilles area identified four novel mutations among 12 consecutive unrelated families.
    Quélin F, Frère C, Pouymayou C, Morange P, de Mazancourt P, Juhan-Vague I.
    Blood Coagul Fibrinolysis; 2009 Jan; 20(1):84-8. PubMed ID: 20523169
    [Abstract] [Full Text] [Related]

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