Now showing items 1-2 of 2

    • Extremely skewed X-chromosome inactivation patterns in women with recurrent spontaneous abortion 

      Bagislar, S.; Ustuner, I.; Cengiz, B.; Soylemez, F.; Akyerli, C. B.; Ceylaner, S.; Ceylaner, G.; Acar, A.; Ozcelik, T. (Wiley-Blackwell Publishing Asia, 2006)
      Background: The role of extremely skewed X-chromosome inactivation (XCI) has been questioned in the pathogenesis of recurrent spontaneous abortion (RSA) but the results obtained were conflicting. Aims: We therefore ...
    • Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy 

      Topçu, M.; Akyerli, C.; Sayi, A.; Törüner, G. A.; Koçoǧlu, S. R.; Cimbiş, M.; Özçelik, T. (Nature Publishing, 2002)
      Rett syndrome is a severe neurodevelopmental disorder that arises from mutations in the X-linked MECP2 gene. It is almost exclusively seen in girls due to the predominant occurrence of the mutations on the paternal ...