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Journal Abstract Search

152 related items for PubMed ID: 10613647

  • 1. Poor relationship between phenotypes of protein S deficiency and mutations in the protein S alpha gene.
    Hermida J, Faioni EM, Mannucci PM.
    Thromb Haemost; 1999 Dec; 82(6):1634-8. PubMed ID: 10613647
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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]

  • 4. 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 Aug; 14(1):30-9. PubMed ID: 10447256
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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 Oct; 15(5):463-73. PubMed ID: 10790208
    [Abstract] [Full Text] [Related]

  • 7. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 8. Protein C and protein S assessment in hospital laboratories: which strategy and what role for DNA sequencing?
    Labrouche S, Reboul MP, Guérin V, Vergnes C, Freyburger G.
    Blood Coagul Fibrinolysis; 2003 Sep; 14(6):531-8. PubMed ID: 12960605
    [Abstract] [Full Text] [Related]

  • 9. PROS1 analysis in 87 pedigrees with hereditary protein S deficiency demonstrates striking genotype-phenotype associations.
    Ten Kate MK, Platteel M, Mulder R, Terpstra P, Nicolaes GA, Reitsma PH, van der Steege G, van der Meer J.
    Hum Mutat; 2008 Jul; 29(7):939-47. PubMed ID: 18435454
    [Abstract] [Full Text] [Related]

  • 10. Gene mutations in 21 unrelated cases of phenotypic heterozygous protein C deficiency and thrombosis. Protein C Study Group.
    Ireland H, Thompson E, Lane DA.
    Thromb Haemost; 1996 Dec; 76(6):867-73. PubMed ID: 8972002
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. [A novel gene mutation in a congenital protein S deficiency pedigree].
    Liu L, He L, Yang S.
    Zhonghua Xue Ye Xue Za Zhi; 2001 Sep; 22(9):457-60. PubMed ID: 11758223
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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]

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  • 16. DNA sequence analysis of protein S deficiency--identification of four point mutations in twelve Japanese subjects.
    Iwaki T, Mastushita T, Kobayashi T, Yamamoto Y, Nomura Y, Kagami K, Nakayama T, Sugiura I, Kojima T, Takamatsu J, Kanayama N, Saito H.
    Semin Thromb Hemost; 2001 Aug; 27(2):155-60. PubMed ID: 11372770
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. A review of mutations causing deficiencies of antithrombin, protein C and protein S.
    Aiach M, Gandrille S, Emmerich J.
    Thromb Haemost; 1995 Jul; 74(1):81-9. PubMed ID: 8578531
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. 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]

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