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Molecular profile and clinical features of patients with gliomas using a broad targeted next generation-sequencing panel.
Romanidou O, Apostolou P, Kouvelakis K, Tsangaras K, Eliades A, Achilleos A, Loizides C, Lemesios C, Ioannides M, Kypri E, Koumbaris G, Papadopoulou K, Papathanasiou A, Rigakos G, Xanthakis I, Fostira F, Kotoula V, Fountzilas G, Patsalis PC. Romanidou O, et al. Among authors: koumbaris g. Oncol Lett. 2022 Dec 8;25(1):38. doi: 10.3892/ol.2022.13624. eCollection 2023 Jan. Oncol Lett. 2022. PMID: 36589665 Free PMC article.
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
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.
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
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
MeDIP real-time qPCR of maternal peripheral blood reliably identifies trisomy 21.
Tsaliki E, Papageorgiou EA, Spyrou C, Koumbaris G, Kypri E, Kyriakou S, Sotiriou C, Touvana E, Keravnou A, Karagrigoriou A, Lamnissou K, Velissariou V, Patsalis PC. Tsaliki E, et al. Among authors: koumbaris g. Prenat Diagn. 2012 Oct;32(10):996-1001. doi: 10.1002/pd.3947. Epub 2012 Jul 26. Prenat Diagn. 2012. PMID: 22833530
31 results