Parcourir par auteur "Orru, S."
Voici les éléments 1-7 de 7
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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 ... -
Interstitial deletion at 11q14.2-11q22.1 may cause severe learning difficulties, mental retardation and mild heart defects in 13-year old male
Papoulidis, I.; Paspaliaris, V.; Siomou, E.; Orru, S.; Murru, R.; Sifakis, S.; Nikolaidis, P.; Garas, A.; Sotiriou, S.; Thomaidis, L.; Manolakos, E. (2015)Interstitial deletions of the long arm of chromosome 11 are rare, and they could be assumed as non-recurrent chromosomal rearrangements due to high variability of the size and the breakpoints of the deleted region. The ... -
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 ... -
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 ... -
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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 ...