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The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers.
Tylki-Szymańska A, Almássy Z, Christophidou-Anastasiadou V, Avdjieva-Tzavella D, Barisic I, Cerkauskiene R, Cuturilo G, Djiordjevic M, Gucev Z, Hlavata A, Kieć-Wilk B, Magner M, Pecin I, Plaiasu V, Samardzic M, Zafeiriou D, Zaganas I, Lampe C. Tylki-Szymańska A, et al. Among authors: christophidou anastasiadou v. Orphanet J Rare Dis. 2022 Mar 24;17(1):136. doi: 10.1186/s13023-022-02285-x. Orphanet J Rare Dis. 2022. PMID: 35331284 Free PMC article.
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: christophidou anastasiadou v. PLoS One. 2021 Jul 29;16(7):e0253562. doi: 10.1371/journal.pone.0253562. eCollection 2021. PLoS One. 2021. PMID: 34324503 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: christophidou anastasiadou v. 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: christophidou anastasiadou v. 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 GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata.
Georgiou T, Mavrikiou G, Alexandrou A, Spanou-Aristidou E, Savva I, Christodoulides T, Krasia M, Christophidou-Anastasiadou V, Sismani C, Drousiotou A, Tanteles GA. Georgiou T, et al. Case Rep Genet. 2016;2016:5208312. doi: 10.1155/2016/5208312. Epub 2016 Mar 30. Case Rep Genet. 2016. PMID: 27123349 Free PMC article.
26 results