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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 1
2004 1
2005 4
2006 2
2007 4
2008 5
2010 3
2011 3
2012 2
2013 3
2014 2
2015 8
2016 6
2017 3
2018 7
2019 3
2020 3
2021 1
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56 results
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Page 1
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.
MAPH: from gels to microarrays.
Patsalis PC, Kousoulidou L, Sismani C, Männik K, Kurg A. Patsalis PC, et al. Among authors: sismani c. Eur J Med Genet. 2005 Jul-Sep;48(3):241-9. doi: 10.1016/j.ejmg.2005.04.011. Eur J Med Genet. 2005. PMID: 16179220 Review.
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: sismani c. 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.
First reported case of Steel syndrome in the European population: A novel homozygous mutation in COL27A1 and review of the literature.
Evie Kritioti, Athina Theodosiou, Nayia Nicolaou, Angelos Alexandrou, Ioannis Papaevripidou, Elisavet Efstathiou, Violetta Christophidou-Anastasiadou, Carolina Sismani, Tanteles GA. Evie Kritioti, et al. Among authors: carolina sismani. Eur J Med Genet. 2020 Jul;63(7):103939. doi: 10.1016/j.ejmg.2020.103939. Epub 2020 Apr 30. Eur J Med Genet. 2020. PMID: 32360765 Free article. Review.
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. 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
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.
Implementation of high resolution whole genome array CGH in the prenatal clinical setting: advantages, challenges, and review of the literature.
Evangelidou P, Alexandrou A, Moutafi M, Ioannides M, Antoniou P, Koumbaris G, Kallikas I, Velissariou V, Sismani C, Patsalis PC. Evangelidou P, et al. Among authors: sismani c. Biomed Res Int. 2013;2013:346762. doi: 10.1155/2013/346762. Epub 2013 Mar 4. Biomed Res Int. 2013. PMID: 23555083 Free PMC article. Review.
56 results
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