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Journal Abstract Search

255 related items for PubMed ID: 18435454

  • 1. 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
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  • 2. 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 Jul; 14(1):30-9. PubMed ID: 10447256
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  • 3. 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
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  • 4. 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
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  • 5. 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
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  • 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 Jan; 15(5):463-73. PubMed ID: 10790208
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  • 8. Small and large PROS1 deletions but no other types of rearrangements detected in patients with protein S deficiency.
    Lind-Halldén C, Dahlen A, Hillarp A, Zöller B, Dahlbäck B, Halldén C.
    Thromb Haemost; 2012 Jul; 108(1):94-100. PubMed ID: 22627709
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  • 9. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 10. Genotype and laboratory and clinical phenotypes of protein s deficiency.
    Duebgen S, Kauke T, Marschall C, Giebl A, Lison S, Hart C, Dick A, Spannagl M.
    Am J Clin Pathol; 2012 Feb; 137(2):178-84. PubMed ID: 22261441
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  • 11. Gross deletions/duplications in PROS1 are relatively common in point mutation-negative hereditary protein S deficiency.
    Pintao MC, Garcia AA, Borgel D, Alhenc-Gelas M, Spek CA, de Visser MC, Gandrille S, Reitsma PH.
    Hum Genet; 2009 Sep; 126(3):449-56. PubMed ID: 19466456
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  • 12. 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
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  • 13. Hereditary protein S deficiency from a novel large deletion mutation of the PROS1 gene detected by multiplex ligation-dependent probe amplification (MLPA).
    Yoo JH, Kim HJ, Maeng HY, Kim YA, Sun YK, Song JW, Choi JR, Kim SH, Lee KA.
    Thromb Res; 2009 Mar; 123(5):793-5. PubMed ID: 19168201
    [No Abstract] [Full Text] [Related]

  • 14. Severe arterial thrombosis in a family with type III protein S deficiency caused by a frameshift mutation in the PROS1 gene.
    Larsen TB, Brusgaard K, Nybo M.
    Thromb Res; 2010 Aug; 126(2):e159-61. PubMed ID: 20398916
    [No Abstract] [Full Text] [Related]

  • 15. Compound heterozygous mutations identified in severe type I protein S deficiency impaired the secretion of protein S.
    Zhou J, Shen W, Gu Y, Li M, Shen W.
    J Clin Pathol; 2020 Jan; 73(1):7-13. PubMed ID: 31422373
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  • 19. A novel splice site mutation in intron C of PROS1 leads to markedly reduced mutant mRNA level, absence of thrombin-sensitive region, and impaired secretion and cofactor activity of mutant protein S.
    Okada H, Kunishima S, Hamaguchi M, Takagi A, Yamamoto K, Takamatsu J, Matsushita T, Saito H, Kojima T, Yamazaki T.
    Thromb Res; 2010 May; 125(5):e246-50. PubMed ID: 20022358
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  • 20. A novel PROS1 mutation, c.74dupA, was identified in a protein S deficiency family.
    Zhang Y, Yang H, Chen Q, Yu J, Chen X, Liu S, Gao G, Song Y, Zhou Z.
    Thromb Res; 2016 Dec; 148():125-127. PubMed ID: 27846449
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