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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: theodosiou a. 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.
Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing.
Aristidou C, Koufaris C, Theodosiou A, Bak M, Mehrjouy MM, Behjati F, Tanteles G, Christophidou-Anastasiadou V, Tommerup N, Sismani C. Aristidou C, et al. Among authors: theodosiou a. PLoS One. 2017 Jan 10;12(1):e0169935. doi: 10.1371/journal.pone.0169935. eCollection 2017. PLoS One. 2017. PMID: 28072833 Free PMC article.
Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases.
Aristidou C, Theodosiou A, Bak M, Mehrjouy MM, Constantinou E, Alexandrou A, Papaevripidou I, Christophidou-Anastasiadou V, Skordis N, Kitsiou-Tzeli S, Tommerup N, Sismani C. Aristidou C, et al. Among authors: theodosiou a. PLoS One. 2018 Oct 5;13(10):e0205298. doi: 10.1371/journal.pone.0205298. eCollection 2018. PLoS One. 2018. PMID: 30289920 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: theodosiou a. 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.
Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population.
Sismani C, Rapti SM, Iliopoulou P, Spring A, Neroutsou R, Lagou M, Robola M, Tsitsopoulos E, Kousoulidou L, Alexandrou A, Papaevripidou I, Theodosiou A, Syrrou M, Fuchs S, Hempel M, Huhle D, Liehr T, Ziegler M, Duesberg M, Velissariou V. Sismani C, et al. Among authors: theodosiou a. J Hum Genet. 2020 Sep;65(9):783-795. doi: 10.1038/s10038-020-0769-z. Epub 2020 May 13. J Hum Genet. 2020. PMID: 32398760
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: theodosiou a. PLoS One. 2021 Jul 29;16(7):e0253562. doi: 10.1371/journal.pone.0253562. eCollection 2021. PLoS One. 2021. PMID: 34324503 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: theodosiou a. Genes (Basel). 2022 Dec 27;14(1):82. doi: 10.3390/genes14010082. Genes (Basel). 2022. PMID: 36672823 Free PMC article.
Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies.
Hadjipanteli A, Theodosiou A, Papaevripidou I, Evangelidou P, Alexandrou A, Salameh N, Kallikas I, Kakoullis K, Frakala S, Oxinou C, Marnerides A, Kousoulidou L, Anastasiadou VC, Sismani C. Hadjipanteli A, et al. Among authors: theodosiou a. Genes (Basel). 2024 Jan 18;15(1):119. doi: 10.3390/genes15010119. Genes (Basel). 2024. PMID: 38255008 Free PMC article.
76 results