Kosma K - Search Results

1

Development of a multidisciplinary clinic of neurofibromatosis type 1 and other neurocutaneous disorders in Greece. A 3-year experience.

Kokkinou E, Roka K, Alexopoulos A, Tsina E, Nikas I, Krallis P, Thanopoulou I, Nasi L, Makrygianni E, Tsoutsou E, Kosma K, Tsipi M, Tzetis M, Frysira H, Kattamis A, Pons R. Kokkinou E, et al. Among authors: kosma k. Postgrad Med. 2019 Sep;131(7):445-452. doi: 10.1080/00325481.2019.1659708. Epub 2019 Sep 12. Postgrad Med. 2019. PMID: 31443616

2

Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH.

Kitsiou-Tzeli S, Frysira H, Giannikou K, Syrmou A, Kosma K, Kakourou G, Leze E, Sofocleous C, Kanavakis E, Tzetis M. Kitsiou-Tzeli S, et al. Among authors: kosma k. Gene. 2012 Jan 15;492(1):319-24. doi: 10.1016/j.gene.2011.10.023. Epub 2011 Oct 20. Gene. 2012. PMID: 22037486

3

Familial Pelizaeus-Merzbacher disease caused by a 320.6-kb Xq22.2 duplication and the pathological findings of a male fetus.

Kitsiou-Tzeli S, Konstantinidou A, Sofocleous C, Kosma K, Syrmou A, Giannikou K, Sifakis S, Makrythanasis P, Tzetis M. Kitsiou-Tzeli S, et al. Among authors: kosma k. Birth Defects Res A Clin Mol Teratol. 2012 Jun;94(6):494-8. doi: 10.1002/bdra.23015. Epub 2012 Apr 18. Birth Defects Res A Clin Mol Teratol. 2012. PMID: 22511562

4

An unusual case of Cat-Eye syndrome phenotype and extragonadal mature teratoma: review of the literature.

Tzetis M, Stefanaki K, Syrmou A, Kosma K, Leze E, Giannikou K, Oikonomakis V, Sofocleous C, Choulakis M, Kolialexi A, Makrythanasis P, Kitsiou-Tzeli S. Tzetis M, et al. Among authors: kosma k. Birth Defects Res A Clin Mol Teratol. 2012 Jul;94(7):561-6. doi: 10.1002/bdra.23038. Epub 2012 Jun 22. Birth Defects Res A Clin Mol Teratol. 2012. PMID: 22730277

5

Further delineation of novel 1p36 rearrangements by array-CGH analysis: narrowing the breakpoints and clarifying the "extended" phenotype.

Giannikou K, Fryssira H, Oikonomakis V, Syrmou A, Kosma K, Tzetis M, Kitsiou-Tzeli S, Kanavakis E. Giannikou K, et al. Among authors: kosma k. Gene. 2012 Sep 15;506(2):360-8. doi: 10.1016/j.gene.2012.06.060. Epub 2012 Jul 2. Gene. 2012. PMID: 22766398

6

Array-CGH revealed one of the smallest 16q21q22.1 microdeletions in a female patient with psychomotor retardation.

Tsoutsou E, Tzetis M, Giannikou K, Syrmou A, Oikonomakis V, Kosma K, Kanioura A, Kanavakis E, Fryssira H. Tsoutsou E, et al. Among authors: kosma k. Eur J Paediatr Neurol. 2013 May;17(3):316-20. doi: 10.1016/j.ejpn.2012.12.004. Epub 2013 Jan 24. Eur J Paediatr Neurol. 2013. PMID: 23352671

7

Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease.

Syrmou A, Tzetis M, Fryssira H, Kosma K, Oikonomakis V, Giannikou K, Makrythanasis P, Kitsiou-Tzeli S, Kanavakis E. Syrmou A, et al. Among authors: kosma k. Pediatr Res. 2013 Jun;73(6):772-6. doi: 10.1038/pr.2013.41. Epub 2013 Mar 12. Pediatr Res. 2013. PMID: 23481551

8

Microduplication 3q13.2q13.31 identified in a male with dysmorphic features and multiple congenital anomalies.

Karavitakis E, Kitsiou-Tzeli S, Xaidara A, Kosma K, Makrythanasis P, Apazidou E, Kanavakis E, Tzetis M. Karavitakis E, et al. Among authors: kosma k. Am J Med Genet A. 2014 Mar;164A(3):666-70. doi: 10.1002/ajmg.a.36346. Epub 2013 Dec 20. Am J Med Genet A. 2014. PMID: 24375959

9

Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications.

Oikonomakis V, Kosma K, Mitrakos A, Sofocleous C, Pervanidou P, Syrmou A, Pampanos A, Psoni S, Fryssira H, Kanavakis E, Kitsiou-Tzeli S, Tzetis M. Oikonomakis V, et al. Among authors: kosma k. Clin Genet. 2016 Jun;89(6):708-18. doi: 10.1111/cge.12740. Epub 2016 Feb 9. Clin Genet. 2016. PMID: 26777411

10

Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley-bixler syndrome phenotype in three sibling fetuses.

Tzetis M, Konstantinidou A, Sofocleous C, Kosma K, Mitrakos A, Tzannatos C, Kitsiou-Tzeli S. Tzetis M, et al. Among authors: kosma k. Birth Defects Res A Clin Mol Teratol. 2016 Jul;106(7):536-41. doi: 10.1002/bdra.23492. Epub 2016 Mar 11. Birth Defects Res A Clin Mol Teratol. 2016. PMID: 26969897

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