Todo DSpace

Listar por autor "Tsoplou, P."

Mostrando ítems 1-3 de 3

    • Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridization 

      Manolakos, E.; Kefalas, K.; Neroutsou, R.; Lagou, M.; Kosyakova, N.; Ewers, E.; Ziegler, M.; Weise, A.; Tsoplou, P.; Rapti, S. M.; Papoulidis, I.; Anastasakis, E.; Garas, A.; Sotiriou, S.; Eleftheriades, M.; Peitsidis, P.; Malathrakis, D.; Thomaidis, L.; Kitsos, G.; Orru, S.; Liehr, T.; Petersen, M. B.; Kitsiou-Tzeli, S. (2010)
      Small supernumerary marker chromosomes (sSMCs) cannot be identified or characterized unambiguously by conventional cytogenetic banding techniques. Until recently, the large variety of marker chromosomes, as well as the ...

    • 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 ...

    • The use of array-CGH in a cohort of Greek children with developmental delay 

      Manolakos, E.; Vetro, A.; Kefalas, K.; Rapti, S. M.; Louizou, E.; Garas, A.; Kitsos, G.; Vasileiadis, L.; Tsoplou, P.; Eleftheriades, M.; Peitsidis, P.; Orru, S.; Liehr, T.; Petersen, M. B.; Thomaidis, L. (2010)
      Background: The genetic diagnosis of mental retardation (MR) is difficult to establish and at present many cases remain undiagnosed and unexplained. Standard karyotyping has been used as one of the routine techniques for ...