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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
2022 1
2023 3
2024 2

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62 results

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Page 1
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: sismani c. Genes (Basel). 2024 Jan 18;15(1):119. doi: 10.3390/genes15010119. Genes (Basel). 2024. PMID: 38255008 Free PMC article.
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: sismani c. 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.
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: sismani c. Genes (Basel). 2022 Dec 27;14(1):82. doi: 10.3390/genes14010082. Genes (Basel). 2022. PMID: 36672823 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: sismani c. PLoS One. 2021 Jul 29;16(7):e0253562. doi: 10.1371/journal.pone.0253562. eCollection 2021. PLoS One. 2021. PMID: 34324503 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: sismani c. 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 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
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.
62 results