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Journal Abstract Search

245 related items for PubMed ID: 16079124

  • 1. 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]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Characterization of seven novel mutations causing factor XI deficiency.
    Zucker M, Zivelin A, Landau M, Salomon O, Kenet G, Bauduer F, Samama M, Conard J, Denninger MH, Hani AS, Berruyer M, Feinstein D, Seligsohn U.
    Haematologica; 2007 Oct; 92(10):1375-80. PubMed ID: 18024374
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  • 8. 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
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  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. Seven novel point mutations in the F11 gene in Iranian FXI-deficient patients.
    Fard-Esfahani P, Lari GR, Ravanbod S, Mirkhani F, Allahyari M, Rassoulzadegan M, Ala F.
    Haemophilia; 2008 Jan; 14(1):91-5. PubMed ID: 18005151
    [Abstract] [Full Text] [Related]

  • 12. Molecular characterization of FXI deficiency.
    Berber E.
    Clin Appl Thromb Hemost; 2011 Feb; 17(1):27-32. PubMed ID: 20308231
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  • 14. A novel factor XI gene mutation associated with mild factor XI deficiency in a symptomatic patient.
    Ramadan KM, McNulty O, Anderson JA, Jones FG, Winter PC.
    Blood Coagul Fibrinolysis; 2006 Sep; 17(6):499-502. PubMed ID: 16905957
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  • 15. A novel heterozygous missense mutation (His127Arg) in a family with inherited cross-reacting material positive factor XI deficiency.
    Castaman G, Giacomelli SH, Tagliaferri A, Rodeghiero F.
    Blood Coagul Fibrinolysis; 2013 Sep; 24(6):670-2. PubMed ID: 23571684
    [Abstract] [Full Text] [Related]

  • 16. 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
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  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion.
    Hill M, McLeod F, Franks H, Gordon B, Dolan G.
    Br J Haematol; 2005 Jun; 129(6):825-9. PubMed ID: 15953011
    [Abstract] [Full Text] [Related]

  • 19. Factor XI Deficiency.
    Duga S, Salomon O.
    Semin Thromb Hemost; 2009 Jun; 35(4):416-25. PubMed ID: 19598070
    [Abstract] [Full Text] [Related]

  • 20. [Factor XI deficiency caused by a mutation of Gly400Val].
    Sato T, Iyama S, Araki N, Murase K, Sato Y, Kobune M, Takimoto R, Matsunaga T, Kato J, Kuroda H, Niitsu Y.
    Rinsho Ketsueki; 2007 Feb; 48(2):148-50. PubMed ID: 17370644
    [Abstract] [Full Text] [Related]

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