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Two unrelated individuals carrying rare mosaic deletions in TCF4 gene.
Kousoulidou L, Alexandrou A, Papaevripidou I, Evangelidou P, Tanteles G, Anastasiadou VC, Sismani C. Kousoulidou L, et al. Among authors: evangelidou p. Am J Med Genet A. 2019 Jan;179(1):134-138. doi: 10.1002/ajmg.a.60692. Epub 2018 Nov 18. Am J Med Genet A. 2019. PMID: 30450687 Free PMC article. No abstract available.
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: evangelidou p. 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
Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3.
Tanteles GA, Nikolaou E, Christou Y, Alexandrou A, Evangelidou P, Christophidou-Anastasiadou V, Sismani C, Papacostas SS. Tanteles GA, et al. Among authors: evangelidou p. Case Rep Genet. 2015;2015:242891. doi: 10.1155/2015/242891. Epub 2015 Jul 29. Case Rep Genet. 2015. PMID: 26294985 Free PMC article.
De novo mosaic MECP2 mutation in a female with Rett syndrome.
Alexandrou A, Papaevripidou I, Alexandrou IM, Theodosiou A, Evangelidou P, Kousoulidou L, Tanteles G, Christophidou-Anastasiadou V, Sismani C. Alexandrou A, et al. Among authors: evangelidou p. Clin Case Rep. 2019 Jan 15;7(2):366-370. doi: 10.1002/ccr3.1985. eCollection 2019 Feb. Clin Case Rep. 2019. PMID: 30847208 Free PMC article.
15 results