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Journal Abstract Search

157 related items for PubMed ID: 7579448

  • 1. The Ser 460 to Pro substitution of the protein S alpha (PROS1) gene is a frequent mutation associated with free protein S (type IIa) deficiency.
    Duchemin J, Gandrille S, Borgel D, Feurgard P, Alhenc-Gelas M, Matheron C, Dreyfus M, Dupuy E, Juhan-Vague I, Aiach M.
    Blood; 1995 Nov 01; 86(9):3436-43. PubMed ID: 7579448
    [Abstract] [Full Text] [Related]

  • 2. Lack of sequence variations in the C4b-BP beta-chain in patients with type III protein S deficiency bearing the Ser 460 to Pro mutation: description of two new intragenic isomorphisms in the C4b-BP beta-chain gene (C4BPB).
    Morboeuf O, Aiach M, Gandrille S.
    Br J Haematol; 1998 Apr 01; 101(1):10-5. PubMed ID: 9576175
    [Abstract] [Full Text] [Related]

  • 3. Heerlen polymorphism of protein S, an immunologic polymorphism due to dimorphism of residue 460.
    Bertina RM, Ploos van Amstel HK, van Wijngaarden A, Coenen J, Leemhuis MP, Deutz-Terlouw PP, van der Linden IK, Reitsma PH.
    Blood; 1990 Aug 01; 76(3):538-48. PubMed ID: 2143091
    [Abstract] [Full Text] [Related]

  • 4. Absence of linkage between type III protein S deficiency and the PROS1 and C4BP genes in families carrying the protein S Heerlen allele.
    Espinosa-Parrilla Y, Morell M, Souto JC, Borrell M, Heine-Suñer D, Tirado I, Volpini V, Estivill X, Sala N.
    Blood; 1997 Apr 15; 89(8):2799-806. PubMed ID: 9108398
    [Abstract] [Full Text] [Related]

  • 5. [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 15; 22(9):457-60. PubMed ID: 11758223
    [Abstract] [Full Text] [Related]

  • 6. Molecular basis for protein S hereditary deficiency: genetic defects observed in 118 patients with type I and type IIa deficiencies. The French Network on Molecular Abnormalities Responsible for Protein C and Protein S Deficiencies.
    Borgel D, Duchemin J, Alhenc-Gelas M, Matheron C, Aiach M, Gandrille S.
    J Lab Clin Med; 1996 Aug 15; 128(2):218-27. PubMed ID: 8765219
    [Abstract] [Full Text] [Related]

  • 7. 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 15; 125(5):647-54. PubMed ID: 15147381
    [Abstract] [Full Text] [Related]

  • 8. A Case of a Pediatric Patient With Protein S Heerlen Polymorphism and Deep Venous Thrombosis.
    Kacar M, Bhatt M.
    J Pediatr Hematol Oncol; 2022 Mar 01; 44(2):e442-e443. PubMed ID: 34486549
    [Abstract] [Full Text] [Related]

  • 9. 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 01; 83(1):102-6. PubMed ID: 10669162
    [Abstract] [Full Text] [Related]

  • 10. Expression and characterization of recombinant protein S with the Ser 460 Pro mutation.
    Morboeuf O, Borgel D, Aiach M, Kaabache T, Gandrille S, Gaussem P.
    Thromb Res; 2000 Oct 01; 100(1):81-8. PubMed ID: 11053620
    [Abstract] [Full Text] [Related]

  • 11. 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 Oct 01; 14(1):30-9. PubMed ID: 10447256
    [Abstract] [Full Text] [Related]

  • 12. 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 01; 126(3):449-56. PubMed ID: 19466456
    [Abstract] [Full Text] [Related]

  • 13. Genetic and phenotypic analysis of a large (122-member) protein S-deficient kindred provides an explanation for the familial coexistence of type I and type III plasma phenotypes.
    Simmonds RE, Zöller B, Ireland H, Thompson E, de Frutos PG, Dahlbäck B, Lane DA.
    Blood; 1997 Jun 15; 89(12):4364-70. PubMed ID: 9192759
    [Abstract] [Full Text] [Related]

  • 14. The Ser460Pro mutation in recombinant protein S Heerlen does not affect its APC-cofactor and APC-independent anticoagulant activities.
    Koenen RR, Gomes L, Tans G, Rosing J, Hackeng TM.
    Thromb Haemost; 2004 Jun 15; 91(6):1105-14. PubMed ID: 15175796
    [Abstract] [Full Text] [Related]

  • 15. Differences in protein S and C4b-binding protein levels in different groups of patients with antiphospholipid antibodies.
    Forastiero RR, Kordich L, Basilotta E, Carreras LO.
    Blood Coagul Fibrinolysis; 1994 Aug 15; 5(4):609-16. PubMed ID: 7841319
    [Abstract] [Full Text] [Related]

  • 16. Venous thromboembolism associated with protein S deficiency due to Arg451* mutation in PROS1 gene: a case report and a literature review.
    Wypasek E, Karpinski M, Alhenc-Gelas M, Undas A.
    J Genet; 2017 Dec 15; 96(6):1047-1051. PubMed ID: 29321366
    [Abstract] [Full Text] [Related]

  • 17. First case of sporadic protein S deficiency due to a novel candidate mutation, Ala 484-->Pro, in the protein S active gene (PROS1).
    Borgel D, Jude B, Aiach M, Gandrille S.
    Thromb Haemost; 1996 Jun 15; 75(6):883-6. PubMed ID: 8822580
    [Abstract] [Full Text] [Related]

  • 18. PROS1 genotype phenotype relationships in a large cohort of adults with suspicion of inherited quantitative protein S deficiency.
    Alhenc-Gelas M, Plu-Bureau G, Horellou MH, Rauch A, Suchon P, GEHT genetic thrombophilia group.
    Thromb Haemost; 2016 Mar 15; 115(3):570-9. PubMed ID: 26466767
    [Abstract] [Full Text] [Related]

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

  • 20. Hereditary protein S deficiency leads to ischemic stroke.
    Wang ZH, Zhao ZJ, Xu K, Sun GB, Song L, Yin HX, Chen XQ.
    Mol Med Rep; 2015 Sep 15; 12(3):3279-3284. PubMed ID: 25997409
    [Abstract] [Full Text] [Related]

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