Kitsiou-Tzeli S - Search Results

1

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

2

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. 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.

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

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.

5

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

6

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.

7

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

8

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

9

Erratum to: An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4.

Selenti N, Tzetis M, Braoudaki M, Giannikou K, Kitsiou-Tzeli S, Fryssira H. Selenti N, et al. Mol Cytogenet. 2015 Sep 30;8:73. doi: 10.1186/s13039-015-0174-z. eCollection 2015. Mol Cytogenet. 2015. PMID: 26430469 Free PMC article.

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

111 results

Search Page

Filters