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GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing.
Malekkou A, Theodosiou A, Alexandrou A, Papaevripidou I, Sismani C, Jacobs EH, Ruijter GJG, Anastasiadou V, Ourani S, Athanasiou E, Drousiotou A, Grafakou O, Petrou PP. Malekkou A, et al. Among authors: papaevripidou i. Mol Genet Metab Rep. 2023 Aug 7;36:100997. doi: 10.1016/j.ymgmr.2023.100997. eCollection 2023 Sep. Mol Genet Metab Rep. 2023. PMID: 37600231 Free PMC article.
Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing.
Aristidou C, Theodosiou A, Alexandrou A, Papaevripidou I, Evangelidou P, Kosmaidou-Aravidou Z, Behjati F, Christophidou-Anastasiadou V, Tanteles GA, Sismani C. Aristidou C, et al. Among authors: papaevripidou i. Genes (Basel). 2022 Dec 27;14(1):82. doi: 10.3390/genes14010082. Genes (Basel). 2022. PMID: 36672823 Free PMC article.
Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation.
Syrimis A, Nicolaou N, Alexandrou A, Papaevripidou I, Nicolaou M, Loukianou E, Sismani C, Malas S, Christophidou-Anastasiadou V, Tanteles GA. Syrimis A, et al. Among authors: papaevripidou i. Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. Mol Med Rep. 2018. PMID: 29901133 Free PMC article.
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: papaevripidou i. 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.
Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population.
Kritioti E, Theodosiou A, Parpaite T, Alexandrou A, Nicolaou N, Papaevripidou I, Séjourné N, Coste B, Christophidou-Anastasiadou V, Tanteles GA, Sismani C. Kritioti E, et al. Among authors: papaevripidou i. PLoS One. 2021 Jul 29;16(7):e0253562. doi: 10.1371/journal.pone.0253562. eCollection 2021. PLoS One. 2021. PMID: 34324503 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: papaevripidou i. 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.
Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.
Alexandrou A, Papaevripidou I, Tsangaras K, Alexandrou I, Tryfonidis M, Christophidou-Anastasiadou V, Zamba-Papanicolaou E, Koumbaris G, Neocleous V, Phylactou LA, Skordis N, Tanteles GA, Sismani C. Alexandrou A, et al. Among authors: papaevripidou i. J Genet. 2016 Dec;95(4):839-845. doi: 10.1007/s12041-016-0698-y. J Genet. 2016. PMID: 27994182 Free article.
An unusual combination of an atypical maternally inherited novel 0.3 Mb deletion in Williams-Beuren region and a de novo 22q11.21 microduplication in an infant with supravalvular aortic stenosis.
Evangelidou P, Kousoulidou L, Salameh N, Alexandrou A, Papaevripidou I, Alexandrou IM, Ketoni A, Ioannidou C, Christophidou-Anastasiadou V, Tanteles GA, Sismani C. Evangelidou P, et al. Among authors: papaevripidou i. Eur J Med Genet. 2020 Dec;63(12):104084. doi: 10.1016/j.ejmg.2020.104084. Epub 2020 Oct 9. Eur J Med Genet. 2020. PMID: 33045407
16 results