Πλοήγηση ανά Συγγραφέα "Papoulidis, I."
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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 ... -
Deletion 2q31.2-q31.3 in a 4-Year-Old Girl With Microcephaly and Severe Mental Retardation
Manolakos, E.; Vetro, A.; Kefalas, K.; Thomaidis, L.; Aperis, G.; Sotiriou, S.; Kitsos, G.; Merkas, M.; Sifakis, S.; Papoulidis, I.; Liehr, T.; Zuffardi, O.; Petersen, M. B. (2011) -
Deletion of 4.4 Mb at 2q33.2q33.3 May Cause Growth Deficiency in a Patient with Mental Retardation, Facial Dysmorphic Features and Speech Delay
Papoulidis, I.; Paspaliaris, V.; Papageorgiou, E.; Siomou, E.; Dagklis, T.; Sotiriou, S.; Thomaidis, L.; Manolakos, E. (2015)A patient with a rare interstitial deletion of chromosomal band 2q33.2q33.3 is described. The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, facial dysmorphism, ... -
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 ... -
Proximal 10q duplication in a child with severe central hypotonia characterized by array-comparative genomic hybridization: A case report and review of the literature
Manolakos, E.; Vetro, A.; Garas, A.; Thomaidis, L.; Kefalas, K.; Kitsos, G.; Ziegler, M.; Liehr, T.; Zuffardi, O.; Papoulidis, I. (2014)Proximal 10q duplication is a well-defined but rare genetic syndrome. Duplication of proximal segments of the long arm of chromosome 10 results in a pattern of malformations, which are distinct from those of the more common ...