• Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome) 

      Manolakos, E.; Orru, S.; Neroutsou, R.; Kefalas, K.; Louizou, E.; Papoulidis, I.; Thomaidis, L.; Peitsidis, P.; Sotiriou, S.; Kitsos, G.; Tsoplou, P.; Petersen, M. B.; Metaxotou, A. (2009)
      Background: Jacobsen syndrome (JBS) is a rare chromosomal disorder leading to multiple physical and mental impairment. This syndrome is caused by a partial deletion of chromosome 11, especially subband 11q24.1 has been ...
    • Χωρίς Τίτλο 

      Kitsiou-Tzeli, S.; Manolakos, E.; Lagou, M.; Kontodiou, M.; Kosyakova, N.; Ewers, E.; Weise, A.; Garas, A.; Orru, S.; Liehr, T.; Metaxotou, A. (2009)
      Background: The heterogeneous group of small supernumerary marker chromosomes (sSMCs) presents serious counseling problems, especially if they are present de novo and diagnosed prenatally. The incidence has been estimated ...