Kanavakis E - 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: kanavakis e. 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

Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH.

Kaliakatsos M, Giannakopoulos A, Fryssira H, Kanariou M, Skiathitou AV, Siahanidou T, Giannikou K, Makrythanasis P, Kanavakis E, Tzetis M. Kaliakatsos M, et al. Among authors: kanavakis e. J Hum Genet. 2010 Nov;55(11):761-3. doi: 10.1038/jhg.2010.95. Epub 2010 Aug 5. J Hum Genet. 2010. PMID: 20686492

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: kanavakis e. 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

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. Among authors: kanavakis e. Expert Rev Mol Diagn. 2012 Jun;12(5):449-57. doi: 10.1586/erm.12.40. Expert Rev Mol Diagn. 2012. PMID: 22702362

5

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: kanavakis e. 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

6

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: kanavakis e. Pediatr Res. 2013 Jun;73(6):772-6. doi: 10.1038/pr.2013.41. Epub 2013 Mar 12. Pediatr Res. 2013. PMID: 23481551

7

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. Among authors: kanavakis e. 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

8

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

9

Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B).

Panagiotakaki E, Tzetis M, Manolaki N, Loudianos G, Papatheodorou A, Manesis E, Nousia-Arvanitakis S, Syriopoulou V, Kanavakis E. Panagiotakaki E, et al. Among authors: kanavakis e. Am J Med Genet A. 2004 Dec 1;131(2):168-73. doi: 10.1002/ajmg.a.30345. Am J Med Genet A. 2004. PMID: 15523622

10

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. Among authors: kanavakis e. Genet Test. 2007 Fall;11(3):303-6. doi: 10.1089/gte.2007.0020. Genet Test. 2007. PMID: 17949292

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