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Journal Abstract Search

228 related items for PubMed ID: 11776305

  • 1. Characterization and structural impact of five novel PROS1 mutations in eleven protein S-deficient families.
    Andersen BD, Bisgaard ML, Lind B, Philips M, Villoutreix B, Thorsen S.
    Thromb Haemost; 2001 Dec; 86(6):1392-9. PubMed ID: 11776305
    [Abstract] [Full Text] [Related]

  • 2. Two mutations in exon XII of the protein S alpha gene in four thrombophilic families resulting in premature stop codons and depressed levels of mutated mRNA.
    Andersen BD, Lind B, Philips M, Hansen AB, Ingerslev J, Thorsen S.
    Thromb Haemost; 1996 Aug; 76(2):143-50. PubMed ID: 8865520
    [Abstract] [Full Text] [Related]

  • 3. Functional characterization of twelve natural PROS1 mutations associated with anticoagulant protein S deficiency.
    Hurtado B, Muñoz X, Mulero MC, Navarro G, Domènech P, García de Frutos P, Pérez-Riba M, Sala N.
    Haematologica; 2008 Apr; 93(4):574-80. PubMed ID: 18322254
    [Abstract] [Full Text] [Related]

  • 4. Identification of protein Salpha gene mutations including four novel mutations in eight unrelated patients with protein S deficiency.
    Okada H, Takagi A, Murate T, Adachi T, Yamamoto K, Matsushita T, Takamatsu J, Sugita K, Sugimoto M, Yoshioka A, Yamazaki T, Saito H, Kojima T.
    Br J Haematol; 2004 Jul; 126(2):219-25. PubMed ID: 15238143
    [Abstract] [Full Text] [Related]

  • 5. Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene: identification of seven novel mutations and three novel, apparently neutral, variants.
    Espinosa-Parrilla Y, Morell M, Borrell M, Souto JC, Fontcuberta J, Estivill X, Sala N.
    Hum Mutat; 2000 Jul; 15(5):463-73. PubMed ID: 10790208
    [Abstract] [Full Text] [Related]

  • 6. Identification of eight point mutations in protein S deficiency type I--analysis of 15 pedigrees.
    Gómez E, Poort SR, Bertina RM, Reitsma PH.
    Thromb Haemost; 1995 May; 73(5):750-5. PubMed ID: 7482398
    [Abstract] [Full Text] [Related]

  • 7. Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency.
    Espinosa-Parrilla Y, Morell M, Souto JC, Tirado I, Fontcuberta J, Estivill X, Sala N.
    Hum Mutat; 1999 May; 14(1):30-9. PubMed ID: 10447256
    [Abstract] [Full Text] [Related]

  • 8. One novel and one recurrent mutation in the PROS1 gene cause type I protein S deficiency in patients with pulmonary embolism associated with deep vein thrombosis.
    Mizukami K, Nakabayashi T, Naitoh S, Takeda M, Tarumi T, Mizoguchi I, Ieko M, Koike T.
    Am J Hematol; 2006 Oct; 81(10):787-97. PubMed ID: 16868938
    [Abstract] [Full Text] [Related]

  • 9. Identification of a novel PROS1 c.1113T-->GG frameshift mutation in a family with mixed type I/type III protein S deficiency.
    ten Kate MK, Mulder R, Platteel M, Brouwer JL, van der Steege G, van der Meer J.
    Haematologica; 2006 Aug; 91(8):1151-2. PubMed ID: 16885060
    [Abstract] [Full Text] [Related]

  • 10. Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I.
    Reitsma PH, Ploos van Amstel HK, Bertina RM.
    J Clin Invest; 1994 Feb; 93(2):486-92. PubMed ID: 8113388
    [Abstract] [Full Text] [Related]

  • 11. Confirmation of inherited protein S deficiency by PROS1 mutational screening: Identification of three novel PROS1 mutations and haplotype analysis of p.Q279X recurrence.
    Hurtado B, Abasolo N, Domènech-Santasusana P, Fuentes-Prior P, García de Frutos P, Sala N.
    Thromb Haemost; 2008 Oct; 100(4):721-4. PubMed ID: 18841302
    [No Abstract] [Full Text] [Related]

  • 12. A novel G-to-A mutation in the intron-N of the protein S gene leading to abnormal RNA splicing in a patient with protein S deficiency.
    D'Andrea G, Di Perna P, Brancaccio V, Faioni EM, Castaman G, Cibelli G, Di Minno G, Margaglione M, Protein S Italian Team.
    Haematologica; 2003 Apr; 88(4):459-64. PubMed ID: 12681974
    [Abstract] [Full Text] [Related]

  • 13. Two distinct novel splice site mutations in a compound heterozygous patient with protein S deficiency.
    Yamazaki T, Katsumi A, Okamoto Y, Takafuta T, Tsuzuki S, Kagami K, Sugiura I, Kojima T, Fujimura K, Saito H.
    Thromb Haemost; 1997 Jan; 77(1):14-20. PubMed ID: 9031442
    [Abstract] [Full Text] [Related]

  • 14. The prevalence of, and molecular defects underlying, inherited protein S deficiency in the general population.
    Beauchamp NJ, Dykes AC, Parikh N, Campbell Tait R, Daly ME.
    Br J Haematol; 2004 Jun; 125(5):647-54. PubMed ID: 15147381
    [Abstract] [Full Text] [Related]

  • 15. Five novel mutations of the protein S active gene (PROS 1) in 8 Norman families.
    Duchemin J, Borg JY, Borgel D, Vasse M, Lévèque H, Aiach M, Gandrille S.
    Thromb Haemost; 1996 Mar; 75(3):437-44. PubMed ID: 8701404
    [Abstract] [Full Text] [Related]

  • 16. Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK.
    van Wijk R, Huizinga EG, van Wesel AC, van Oirschot BA, Hadders MA, van Solinge WW.
    Hum Mutat; 2009 Mar; 30(3):446-53. PubMed ID: 19085939
    [Abstract] [Full Text] [Related]

  • 17. First frameshift mutation in the active protein S gene associated with a quantitative hereditary deficiency.
    Borgel D, Gandrille S, Gouault-Heilmann M, Aiach M.
    Blood Coagul Fibrinolysis; 1994 Aug; 5(4):593-600. PubMed ID: 7841316
    [Abstract] [Full Text] [Related]

  • 18. Identification of three novel mutations in hereditary protein S deficiency.
    Bustorff TC, Freire I, Gago T, Crespo F, David D.
    Thromb Haemost; 1997 Jan; 77(1):21-5. PubMed ID: 9031443
    [Abstract] [Full Text] [Related]

  • 19. Genetic characterization of protein C deficiency in Japanese subjects using a rapid and nonradioactive method for single-stand conformational polymorphism analysis and a model building.
    Miyata T, Sakata T, Zheng YZ, Tsukamoto H, Umeyama H, Uchiyama S, Ikusaka M, Yoshioka A, Imanaka Y, Fujimura H, Kambayashi J, Kato H.
    Thromb Haemost; 1996 Sep; 76(3):302-11. PubMed ID: 8883262
    [Abstract] [Full Text] [Related]

  • 20. Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study.
    Biguzzi E, Razzari C, Lane DA, Castaman G, Cappellari A, Bucciarelli P, Fontana G, Margaglione M, D'Andrea G, Simmonds RE, Rezende SM, Preston R, Prisco D, Faioni EM, Protein S Italian Team.
    Hum Mutat; 2005 Mar; 25(3):259-69. PubMed ID: 15712227
    [Abstract] [Full Text] [Related]

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