These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

207 related items for PubMed ID: 11758223

  • 1. [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]

  • 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. [A point mutation of protein C gene in a congenital protein C deficiency pedigree].
    Liu L, Guo WR, He LS, Mu H, Jiang Y, Huang FQ, Li JZ.
    Zhonghua Xue Ye Xue Za Zhi; 2003 Mar; 24(3):115-8. PubMed ID: 12697119
    [Abstract] [Full Text] [Related]

  • 4. 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]

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

  • 6. 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]

  • 7. 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]

  • 8. Homozygous protein S deficiency due to a one base pair deletion that leads to a stop codon in exon III of the protein S gene.
    Gómez E, Ledford MR, Pegelow CH, Reitsma PH, Bertina RM.
    Thromb Haemost; 1994 Jun; 71(6):723-6. PubMed ID: 7974339
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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]

  • 11. 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]

  • 12. Compound heterozygosity for one novel and one recurrent mutation in a Thai patient with severe protein S deficiency.
    Pung-amritt P, Poort SR, Vos HL, Bertina RM, Mahasandana C, Tanphaichitr VS, Veerakul G, Kankirawatana S, Suvatte V.
    Thromb Haemost; 1999 Feb; 81(2):189-92. PubMed ID: 10063989
    [Abstract] [Full Text] [Related]

  • 13. [Recurrent deep vein thrombosis caused by heterozygous missense mutation of the protein S gene: genetic analysis of a case].
    Ye X, Liu XL, Feng Y, Zhou XH, Xing ZF.
    Nan Fang Yi Ke Da Xue Xue Bao; 2011 Jun; 31(7):1228-31. PubMed ID: 21764702
    [Abstract] [Full Text] [Related]

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

  • 15. A quantitative protein S deficiency associated with a novel nonsense mutation and markedly reduced levels of mutated mRNA.
    Yamazaki T, Hamaguchi M, Katsumi A, Kagami K, Kojima T, Takamatsu J, Saito H.
    Thromb Haemost; 1995 Aug; 74(2):590-5. PubMed ID: 8584989
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. [Clotting factor X deficiency resulted from an T 58-->G mutation within exon 1 of human factor X gene].
    Yin J, Wang H, Wang X.
    Zhonghua Xue Ye Xue Za Zhi; 2001 Sep; 22(9):481-3. PubMed ID: 11758231
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. Influence of PROS1 gene mutations affecting protein S amino-acid 275 on plasma free protein S measurement.
    Alhenc Gelas M, Juin F, de Raucourt E, Gandrille S, Borgel D, Aiach M.
    Thromb Haemost; 2007 Apr; 97(4):678-80. PubMed ID: 17393035
    [No Abstract] [Full Text] [Related]

  • 20. Biochemical activity and gene analysis of inherited protein C and antithrombin deficiency in two Chinese pedigrees.
    Zhou RF, Fu QH, Wang WB, Xie S, Hu YQ, Wang XF, Wang ZY, Wang HL.
    Chin Med J (Engl); 2004 Jun; 117(6):813-7. PubMed ID: 15198878
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 11.