Now showing items 1-4 of 4

    • Coagulation factor V gene mutation increases the risk of venous thrombosis in Behcet's disease 

      Gül, A.; Özbek, U.; Öztürk, C.; Inanç, M.; Koniçe, M.; Özçelik, T. (Oxford University Press, 1996)
      We investigated the prevalence of the coagulation factor V gene G1691A mutation in 64 patients with Behcet's disease (BD) and in 107 apparently healthy individuals. The mutation was present in the heterozygous state in ...
    • The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographicaly diverse populations 

      Mazoyer, S.; Leary, J.; Kirk, J.; Fleischmann, E.; Wagner, T.; Claes, K.; Messiaen, L.; Foulkes, W.; Desrochers, M.; Simard, J.; Phelan, C. M.; Kwan, E.; Narod, S. A.; Vahteristo, P.; Nevanlinna, H.; Durando, X.; Bignon, Y. J.; Peyrat, J. P.; Bonnardel, C.; Sinilnikova, O. M.; Puget, N.; Lenoir, G. M.; Audoynaud, C.; Goldgar, D.; Maugard, C.; Caux, V.; Gad, S.; Stoppa-Lyonnet, D.; Noguès, C.; Lidereau, R.; Machavoine, C.; Bressac-De Paillerets, B.; Kuschel, B.; Betz, B.; Niederacher, D.; Beckmann, M. W.; Hamann, U.; Ponder, B. A. P.; Robinson, M.; Taylor G. R.; Bishop, T.; Catteau, A.; Solomon, E.; Cohen, B.; Steel, M.; Collins, N.; Stratton, M.; Van Der Looij, M.; Oláh, E.; Miller, N. J.; Barton, D. E.; Sverdlov, R. S.; Friedman, E.; Radice P.; Montagna, M.; Sensi, E.; Caligo, M.; Van Eijk, R.; Devilee, P.; Van Der Luijt, R.; Heimdal, K.; Møller, P.; Borg, Å.; Diez, O.; Cortes, J.; Domenech, M.; Baiget, M.; Osorio, A.; Benítez, J.; Maillet, P.; Sappino, A. P.; Özdag, H.; Özçelik, T.; Ozturk, M.; Rohlfs, E. M.; Boyd, J.; McDermott, D.; Offit, K.; Unger, M.; Nathanson, K.; Weber, B. L.; Sellers, T. A.; Hampton, E.; Couch, F. J.; Neuhausen, S.; Gayther, S. A. (Cell Press, 2000)
      Recently, a 6-kb duplication of exon 13, which creates a frameshift in the coding sequence of the BRCA1 gene, has been described in three unrelated U.S. families of European ancestry and in one Portuguese family. Here, our ...
    • Increased frequency of extremely skewed X chromosome inactivation in juvenile idiopathic arthritis 

      Uz, E.; Mustafa, C.; Topaloglu, R.; Bilginer, Y.; Dursun, A.; Kasapcopur, O.; Ozen, S.; Bakkaloglu, A.; Ozcelik, T. (John Wiley & Sons, Inc., 2009)
      Objective. Juvenile idiopathic arthritis (JIA) is a childhood rheumatic disease of unknown etiology. Two subgroups of JIA, i.e., oligoarticular and polyarticular, are thought to have an autoimmune component, and show a ...
    • TP53 mutations in familial breast cancer: Functional aspects 

      Gasco, M.; Yulug, I. G.; Crook, T. (John Wiley & Sons, Inc., 2003)
      Mutation in p53 (TP53) remains one of the most commonly described genetic events in human neoplasia. The occurrence of mutations is somewhat less common in sporadic breast carcinomas than in other cancers, with an overall ...