BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

208 related articles for article (PubMed ID: 10447256)

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

  • 2. 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; 15(5):463-73. PubMed ID: 10790208
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Homozygosity for the protein S Heerlen allele is associated with type I PS deficiency in a thrombophilic pedigree with multiple risk factors.
    Espinosa-Parrilla Y; Navarro G; Morell M; Abella E; Estivill X; Sala N
    Thromb Haemost; 2000 Jan; 83(1):102-6. PubMed ID: 10669162
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [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
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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
    [TBL] [Abstract][Full Text] [Related]  

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

  • 17. 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; 27(2):155-60. PubMed ID: 11372770
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular basis of protein S deficiency.
    García de Frutos P; Fuentes-Prior P; Hurtado B; Sala N
    Thromb Haemost; 2007 Sep; 98(3):543-56. PubMed ID: 17849042
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Difference in absolute risk of venous and arterial thrombosis between familial protein S deficiency type I and type III. Results from a family cohort study to assess the clinical impact of a laboratory test-based classification.
    Brouwer JL; Veeger NJ; van der Schaaf W; Kluin-Nelemans HC; van der Meer J
    Br J Haematol; 2005 Mar; 128(5):703-10. PubMed ID: 15725093
    [TBL] [Abstract][Full Text] [Related]  

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

    [Next]    [New Search]
    of 11.