Parcourir par auteur "Petersen, M. B."
Voici les éléments 1-6 de 6
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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 ... -
Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non-acrocentric satellited chromosomes
Sarri, C.; Douzgou, S.; Gyftodimou, Y.; Tümer, Z.; Ravn, K.; Pasparaki, A.; Sarafidou, T.; Kontos, H.; Kokotas, H.; Karadima, G.; Grigoriadou, M.; Pandelia, E.; Theodorou, V.; Moschonas, N. K.; Petersen, M. B. (2011)We report on an intellectually disabled girl with a de novo satellited chromosome 10 (10qs) and performed a review of the literature of the non-acrocentric satellited chromosomes (NASC). Satellites and stalks normally occur ... -
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) -
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) -
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 ...