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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. J Genet. 2016 Dec;95(4):839-845. doi: 10.1007/s12041-016-0698-y. J Genet. 2016. PMID: 27994182 Free 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: christophidou anastasiadou v. 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.
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: christophidou anastasiadou v. 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
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.
Evidence of digenic inheritance in autoinflammation-associated genes.
Neocleous V, Byrou S, Toumba M, Costi C, Shammas C, Kyriakou C, Christophidou-Anastasiadou V, Tanteles GA, Hadjipanayis A, Phylactou LA. Neocleous V, et al. J Genet. 2016 Dec;95(4):761-766. doi: 10.1007/s12041-016-0691-5. J Genet. 2016. PMID: 27994174 Free article.
26 results