Kosma K - Search Results

1

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

2

Chitotriosidase plasma activity in nephropathic cystinosis.

Xaidara A, Karavitakis EM, Kosma K, Emma F, Dimitriou E, Michelakakis H. Xaidara A, et al. Among authors: kosma k. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S157-9. doi: 10.1007/s10545-009-1118-8. Epub 2009 May 20. J Inherit Metab Dis. 2009. PMID: 19455402

3

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

4

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

5

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

6

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

7

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

8

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

9

Novel and known nephrin gene (NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex genotype.

Fylaktou I, Megremis S, Mitsioni A, Kitsiou-Tzeli S, Kosma K, Bitsori M, Stefanidis CJ, Kanavakis E, Traeger Synodinos J. Fylaktou I, et al. Among authors: kosma k. J Genet. 2013 Dec;92(3):577-81. doi: 10.1007/s12041-013-0290-7. J Genet. 2013. PMID: 24371179 No abstract available.

10

UBE3A, c.1347_1348delGA: a mutation in question.

Sofocleous C, Tzagkaraki E, Kosma K, Kanavakis E, Kitsiou-Tzeli S. Sofocleous C, et al. Among authors: kosma k. Clin Chem Lab Med. 2016 Apr;54(4):e143-4. doi: 10.1515/cclm-2015-0784. Clin Chem Lab Med. 2016. PMID: 26457786 No abstract available.

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