Kosma K - Search Results

1

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.

2

Identification of a Novel IQCE Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7.

Tilemis FN, Marinakis NM, Kosma K, Fostira F, Traeger-Synodinos J. Tilemis FN, et al. Among authors: kosma k. Mol Syndromol. 2023 Jun;14(3):225-230. doi: 10.1159/000527777. Epub 2023 Jan 13. Mol Syndromol. 2023. PMID: 37323200 Free PMC article.

3

Prenatal Chromosomal Microarray Analysis: Does Increased Resolution Equal Increased Yield?

Mitrakos A, Kosma K, Makrythanasis P, Tzetis M. Mitrakos A, et al. Among authors: kosma k. Genes (Basel). 2023 Jul 25;14(8):1519. doi: 10.3390/genes14081519. Genes (Basel). 2023. PMID: 37628571 Free PMC article.

4

Characteristics of Café-au-lait Macules and their Association with the Neurofibromatosis type I Genotype in a Cohort of Greek Children.

Nasi L, Alexopoulos A, Kokkinou E, Roka K, Tzetis M, Tsipi M, Kakourou T, Kanaka-Gantenbein C, Chrousos G, Kattamis A, Pons R; Agia Sophia Neurocutaneous Group. Nasi L, et al. Acta Derm Venereol. 2023 Jun 5;103:adv5758. doi: 10.2340/actadv.v103.5758. Acta Derm Venereol. 2023. PMID: 37272364 Free PMC article.

5

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

6

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.

7

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

8

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

9

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

10

Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases.

Tsipi M, Tzetis M, Kosma K, Moschos M, Braoudaki M, Poulou M, Kanavakis E, Kitsiou-Tzeli S. Tsipi M, et al. Among authors: kosma k. Meta Gene. 2016 Feb 16;8:37-43. doi: 10.1016/j.mgene.2016.02.002. eCollection 2016 Jun. Meta Gene. 2016. PMID: 27014590 Free PMC article.

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