Výsledky vyhledávání - "Kitsos George"

Akademický článek

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

Autor: Eleftheriades Makarios, Tsoplou Panagiota, Vasileiadis Lefteris, Kitsos George, Garas Antonios, Louizou Eirini, Rapti Stamatia-Maria, Kefalas Konstantinos, Vetro Annalisa, Manolakos Emmanouil, Peitsidis Panagiotis, Orru Sandro, Liehr Thomas, Petersen Michael B, Thomaidis Loretta

Publikováno v: Molecular Cytogenetics, Vol 3, Iss 1, p 22 (2010)

Abstract 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 the last decades. The

Externí odkaz: https://doaj.org/article/69a8c1d1ae6847ce9d6eaa78aa91e48f

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Akademický článek

Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome)

Autor: Peitsidis Panagiotis, Thomaidis Loretta, Papoulidis Ioannis, Louizou Eirini, Kefalas Konstantinos, Neroutsou Rosita, Orru Sandro, Manolakos Emmanouil, Sotiriou Sotirios, Kitsos George, Tsoplou Panagiota, Petersen Michael B, Metaxotou Aikaterini

Publikováno v: Molecular Cytogenetics, Vol 2, Iss 1, p 26 (2009)

Abstract 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 proven to be involved.

Externí odkaz: https://doaj.org/article/a11e26e40241409994a4381254d70816

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Akademický článek

Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report

Autor: Kokotas Haris, Orru Sandro, Mihalatos Markos, Weise Anja, Neroutsou Rozita, Thomaidis Loreta, Kosyakova Nadezda, Manolakos Emmanouil, Kitsos George, Liehr Thomas, Petersen Michael B

Publikováno v: Molecular Cytogenetics, Vol 1, Iss 1, p 24 (2008)

Abstract We report on a 7 years and 4 months old Greek boy with mild microcephaly and dysmorphic facial features. He was a sociable child with maxillary hypoplasia, epicanthal folds, upslanting palpebral fissures with long eyelashes, and hyperteloris

Externí odkaz: https://doaj.org/article/08d8a4f01e1742afa6f3a5e7431f6a13

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