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9 Mb familial duplication in chromosome band Xp22.2-22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features.
Sismani C, Anastasiadou V, Kousoulidou L, Parkel S, Koumbaris G, Zilina O, Bashiardes S, Spanou E, Kurg A, Patsalis PC. Sismani C, et al. Among authors: koumbaris g. Eur J Med Genet. 2011 Sep-Oct;54(5):e510-5. doi: 10.1016/j.ejmg.2011.05.006. Epub 2011 Jun 17. Eur J Med Genet. 2011. PMID: 21684358
Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability.
Patsalis PC, Skordis N, Sismani C, Kousoulidou L, Koumbaris G, Eftychi C, Stavrides G, Ioulianos A, Kitsiou-Tzeli S, Galla-Voumvouraki A, Kosmaidou Z, Hadjiathanasiou CG, McElreavey K. Patsalis PC, et al. Among authors: koumbaris g. Am J Med Genet A. 2005 Jun 1;135(2):145-9. doi: 10.1002/ajmg.a.30712. Am J Med Genet A. 2005. PMID: 15880425
Loss of the Y chromosome PAR2 region and additional rearrangements in two familial cases of satellited Y chromosomes: cytogenetic and molecular analysis.
Velissariou V, Sismani C, Christopoulou S, Kaminopetros P, Hatzaki A, Evangelidou P, Koumbaris G, Bartsocas CS, Stylianidou G, Skordis N, Diakoumakos A, Patsalis PC. Velissariou V, et al. Among authors: koumbaris g. Eur J Med Genet. 2007 Jul-Aug;50(4):291-300. doi: 10.1016/j.ejmg.2007.04.004. Epub 2007 May 18. Eur J Med Genet. 2007. PMID: 17584536
Prenatal diagnosis of a de novo partial trisomy 10p12.1-12.2 pter originating from an unbalanced translocation onto 15qter and confirmed with array CGH.
Kitsiou-Tzeli S, Sismani C, Karkaletsi M, Florentin L, Anastassiou A, Koumbaris G, Evangelidou P, Agapitos E, Patsalis PC, Velissariou V. Kitsiou-Tzeli S, et al. Among authors: koumbaris g. Prenat Diagn. 2008 Aug;28(8):770-2. doi: 10.1002/pd.2049. Prenat Diagn. 2008. PMID: 18615545 No abstract available.
Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations.
Evangelidou P, Sismani C, Ioannides M, Christodoulou C, Koumbaris G, Kallikas I, Georgiou I, Velissariou V, Patsalis PC. Evangelidou P, et al. Among authors: koumbaris g. Mol Cytogenet. 2010 Nov 26;3:24. doi: 10.1186/1755-8166-3-24. Mol Cytogenet. 2010. PMID: 21110858 Free PMC article.
FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation.
Koumbaris G, Hatzisevastou-Loukidou H, Alexandrou A, Ioannides M, Christodoulou C, Fitzgerald T, Rajan D, Clayton S, Kitsiou-Tzeli S, Vermeesch JR, Skordis N, Antoniou P, Kurg A, Georgiou I, Carter NP, Patsalis PC. Koumbaris G, et al. Hum Mol Genet. 2011 May 15;20(10):1925-36. doi: 10.1093/hmg/ddr074. Epub 2011 Feb 24. Hum Mol Genet. 2011. PMID: 21349920 Free PMC article.
21 Mb deletion in chromosome band 13q22.2q32.1 associated with mild/moderate psychomotor retardation, growth hormone insufficiency, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features.
Grigori P, Panayiotou E, Sismani C, Koumbaris G, Ioannides M, Costalos C, Kosmaidou-Aravidou Z, Kousoulidou L, Patsalis PC. Grigori P, et al. Among authors: koumbaris g. Eur J Med Genet. 2011 May-Jun;54(3):365-8. doi: 10.1016/j.ejmg.2011.02.006. Epub 2011 Feb 24. Eur J Med Genet. 2011. PMID: 21354346
32 results