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Page 1
Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion.
Kitsiou-Tzeli S, Sismani C, Ioannides M, Bashiardes S, Ketoni A, Touliatou V, Kolialexi A, Mavrou A, Kanavakis E, Patsalis PC. Kitsiou-Tzeli S, et al. Among authors: sismani c. Eur J Med Genet. 2007 Jan-Feb;50(1):73-8. doi: 10.1016/j.ejmg.2006.09.004. Epub 2006 Oct 11. Eur J Med Genet. 2007. PMID: 17194633
Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations.
Evangelidou P, Sismani C, Ioannides M, Christodoulou C, Koumbaris G, Kallikas I, Georgiou I, Velissariou V, Patsalis PC. Evangelidou P, et al. Among authors: sismani c. Mol Cytogenet. 2010 Nov 26;3:24. doi: 10.1186/1755-8166-3-24. Mol Cytogenet. 2010. PMID: 21110858 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: sismani c. PLoS One. 2017 Jan 10;12(1):e0169935. doi: 10.1371/journal.pone.0169935. eCollection 2017. PLoS One. 2017. PMID: 28072833 Free PMC article.
De novo unbalanced translocations have a complex history/aetiology.
Bonaglia MC, Kurtas NE, Errichiello E, Bertuzzo S, Beri S, Mehrjouy MM, Provenzano A, Vergani D, Pecile V, Novara F, Reho P, Di Giacomo MC, Discepoli G, Giorda R, Aldred MA, Santos-Rebouças CB, Goncalves AP, Abuelo DN, Giglio S, Ricca I, Franchi F, Patsalis P, Sismani C, Morí MA, Nevado J, Tommerup N, Zuffardi O. Bonaglia MC, et al. Among authors: sismani c. Hum Genet. 2018 Oct;137(10):817-829. doi: 10.1007/s00439-018-1941-9. Epub 2018 Oct 1. Hum Genet. 2018. PMID: 30276538 Clinical Trial.
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: sismani c. 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: sismani c. 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.
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Koumbaris G, Achilleos A, Nicolaou M, Loizides C, Tsangaras K, Kypri E, Mina P, Sismani C, Velissariou V, Christopoulou G, Constantoulakis P, Manolakos E, Papoulidis I, Stambouli D, Ioannides M, Patsalis P. Koumbaris G, et al. Among authors: sismani c. Mol Cytogenet. 2019 Nov 21;12:48. doi: 10.1186/s13039-019-0459-8. eCollection 2019. Mol Cytogenet. 2019. PMID: 31832098 Free PMC article.
76 results