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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: patsalis pc. 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. Among authors: patsalis pc. 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: patsalis pc. 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
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. 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
137 results