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Natural history of KBG syndrome in a large European cohort.
Hum Mol Genet. 2022 Dec 16;31(24):4131-4142. doi: 10.1093/hmg/ddac167.
Hum Mol Genet. 2022.
PMID: 35861666
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.
PLoS One. 2017 Jan 10;12(1):e0169935. doi: 10.1371/journal.pone.0169935. eCollection 2017.
PLoS One. 2017.
PMID: 28072833
Free PMC article.
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Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement.
Aristidou C, Theodosiou A, Ketoni A, Bak M, Mehrjouy MM, Tommerup N, Sismani C.
Aristidou C, et al.
Mol Cytogenet. 2018 Jun 7;11:34. doi: 10.1186/s13039-018-0384-2. eCollection 2018.
Mol Cytogenet. 2018.
PMID: 29930709
Free PMC article.
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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.
PLoS One. 2018 Oct 5;13(10):e0205298. doi: 10.1371/journal.pone.0205298. eCollection 2018.
PLoS One. 2018.
PMID: 30289920
Free PMC article.
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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.
Genes (Basel). 2022 Dec 27;14(1):82. doi: 10.3390/genes14010082.
Genes (Basel). 2022.
PMID: 36672823
Free PMC article.
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