Kitsiou-Tzeli S - 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. 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

The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.

Tzetis M, Kitsiou-Tzeli S, Frysira H, Xaidara A, Kanavakis E. Tzetis M, et al. Expert Rev Mol Diagn. 2012 Jun;12(5):449-57. doi: 10.1586/erm.12.40. Expert Rev Mol Diagn. 2012. PMID: 22702362

3

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. Gene. 2012 Sep 15;506(2):360-8. doi: 10.1016/j.gene.2012.06.060. Epub 2012 Jul 2. Gene. 2012. PMID: 22766398

4

Distal del(4) (q33) syndrome: detailed clinical presentation and molecular description with array-CGH.

Kitsiou-Tzeli S, Sismani C, Koumbaris G, Ioannides M, Kanavakis E, Kolialexi A, Mavrou A, Touliatou V, Patsalis PC. Kitsiou-Tzeli S, et al. Eur J Med Genet. 2008 Jan-Feb;51(1):61-7. doi: 10.1016/j.ejmg.2007.09.004. Epub 2007 Oct 2. Eur J Med Genet. 2008. PMID: 17998173

5

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. J Genet. 2013 Dec;92(3):577-81. doi: 10.1007/s12041-013-0290-7. J Genet. 2013. PMID: 24371179 No abstract available.

6

A Female Patient with Xq28 Microduplication Presenting with Myotubular Myopathy, Confirmed with a Custom-Designed X-array.

Kosma K, Mitrakos A, Sofokleous C, Papadimas G, Fryssira H, Kitsiou-Tzeli S, Tzetis M. Kosma K, et al. Among authors: kitsiou tzeli s. Neuropediatrics. 2019 Feb;50(1):61-63. doi: 10.1055/s-0038-1676513. Epub 2018 Dec 12. Neuropediatrics. 2019. PMID: 30541163

7

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. 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

8

Maternal epigenetics and fetal and neonatal growth.

Kitsiou-Tzeli S, Tzetis M. Kitsiou-Tzeli S, et al. Curr Opin Endocrinol Diabetes Obes. 2017 Feb;24(1):43-46. doi: 10.1097/MED.0000000000000305. Curr Opin Endocrinol Diabetes Obes. 2017. PMID: 27898587 Review.

9

Genetic polymorphisms in the UGT1A1 gene and breast cancer risk in Greek women.

Tsezou A, Tzetis M, Giannatou E, Gennatas C, Pampanos A, Kanavakis E, Kitsiou-Tzeli S. Tsezou A, et al. Genet Test. 2007 Fall;11(3):303-6. doi: 10.1089/gte.2007.0020. Genet Test. 2007. PMID: 17949292

10

Phenotypic expression of a spectrum of Neurofibromatosis Type 1 (NF1) mutations identified through NGS and MLPA.

Tsipi M, Poulou M, Fylaktou I, Kosma K, Tsoutsou E, Pons MR, Kokkinou E, Kitsiou-Tzeli S, Fryssira H, Tzetis M. Tsipi M, et al. Among authors: kitsiou tzeli s. J Neurol Sci. 2018 Dec 15;395:95-105. doi: 10.1016/j.jns.2018.10.006. Epub 2018 Oct 4. J Neurol Sci. 2018. PMID: 30308447

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