Πλοήγηση ανά Συγγραφέα "Peitsidis, P."
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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 ... -
Prenatal detection of an inverted duplication deletion in the long arm of chromosome 1 in a fetus with increased nuchal translucency. Molecular cytogenetic analysis and review of the literature
Manolakos, E.; Sifakis, S.; Sotiriou, S.; Peitsidis, P.; Eleftheriades, M.; Mersinias, V.; Liehr, T.; Thomaidis, L.; Kitsos, G.; Papoulidis, I.; Petersen, M. B.; Orru, S. (2012) -
Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature
Sifakis, S.; Manolakos, E.; Vetro, A.; Kappou, D.; Peitsidis, P.; Kontodiou, M.; Garas, A.; Vrachnis, N.; Konstandinidou, A.; Zuffardi, O.; Orru, S.; Papoulidis, I. (2012)Wolf-Hirschhorn syndrome (WHS) is a well known genetic condition caused by a partial deletion of the short arm of chromosome 4. The great variability in the extent of the 4p deletion and the possible contribution of ... -
Sonographic antenatal diagnosis of congenital dacryocystoceles
Sotiriou, S.; Manolakos, E.; Peitsidis, P.; Garas, A. (2012)Congenital dacryocystoceles are a relatively rare variant of nasolacrimal duct obstruction, accounting for only 0.1% of infants with congenital nasolacrimal duct obstruction. We report a new case of bilateral congenital ... -
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 ...