Kanavakis E - Search Results

1

Mutation screening in the Greek population and evaluation of NLGN3 and NLGN4X genes causal factors for autism.

Volaki K, Pampanos A, Kitsiou-Tzeli S, Vrettou C, Oikonomakis V, Sofocleous C, Kanavakis E. Volaki K, et al. Among authors: kanavakis e. Psychiatr Genet. 2013 Oct;23(5):198-203. doi: 10.1097/YPG.0b013e3283643644. Psychiatr Genet. 2013. PMID: 23851596

2

A substitution involving the NLGN4 gene associated with autistic behavior in the Greek population.

Pampanos A, Volaki K, Kanavakis E, Papandreou O, Youroukos S, Thomaidis L, Karkelis S, Tzetis M, Kitsiou-Tzeli S. Pampanos A, et al. Among authors: kanavakis e. Genet Test Mol Biomarkers. 2009 Oct;13(5):611-5. doi: 10.1089/gtmb.2009.0005. Genet Test Mol Biomarkers. 2009. PMID: 19645625

3

Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion.

Psoni S, Sofocleous C, Traeger-Synodinos J, Kitsiou-Tzeli S, Kanavakis E, Fryssira-Kanioura H. Psoni S, et al. Among authors: kanavakis e. Pediatr Res. 2010 May;67(5):551-6. doi: 10.1203/PDR.0b013e3181d4ecf7. Pediatr Res. 2010. PMID: 20098342

4

MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders.

Psoni S, Sofocleous C, Traeger-Synodinos J, Kitsiou-Tzeli S, Kanavakis E, Fryssira-Kanioura H. Psoni S, et al. Among authors: kanavakis e. Brain Dev. 2012 Jun;34(6):487-95. doi: 10.1016/j.braindev.2011.09.002. Epub 2011 Oct 6. Brain Dev. 2012. PMID: 21982064

5

Rapid screening of multiple beta-globin gene mutations by real-time PCR on the LightCycler: application to carrier screening and prenatal diagnosis of thalassemia syndromes.

Vrettou C, Traeger-Synodinos J, Tzetis M, Malamis G, Kanavakis E. Vrettou C, et al. Among authors: kanavakis e. Clin Chem. 2003 May;49(5):769-76. doi: 10.1373/49.5.769. Clin Chem. 2003. PMID: 12709368

6

Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis.

Vrettou C, Traeger-Synodinos J, Tzetis M, Palmer G, Sofocleous C, Kanavakis E. Vrettou C, et al. Among authors: kanavakis e. Hum Mutat. 2004 May;23(5):513-21. doi: 10.1002/humu.20022. Hum Mutat. 2004. PMID: 15108284

7

Rapid detection of fetal Mendelian disorders: thalassemia and sickle cell syndromes.

Traeger-Synodinos J, Vrettou C, Kanavakis E. Traeger-Synodinos J, et al. Among authors: kanavakis e. Methods Mol Biol. 2008;444:133-45. doi: 10.1007/978-1-59745-066-9_10. Methods Mol Biol. 2008. PMID: 18425477

8

Three novel mutations in greek sotos patients with rare clinical manifestations.

Leventopoulos G, Kitsiou-Tzeli S, Psoni S, Mavrou A, Kanavakis E, Willems P, Fryssira H. Leventopoulos G, et al. Among authors: kanavakis e. Horm Res. 2009 Jan;71(1):45-51. doi: 10.1159/000173741. Epub 2008 Nov 27. Horm Res. 2009. PMID: 19039236

9

Screening of UBE3A gene in patients referred for Angelman Syndrome.

Tzagkaraki E, Sofocleous C, Fryssira-Kanioura H, Dinopoulos A, Goulielmos G, Mavrou A, Kitsiou-Tzeli S, Kanavakis E. Tzagkaraki E, et al. Among authors: kanavakis e. Eur J Paediatr Neurol. 2013 Jul;17(4):366-73. doi: 10.1016/j.ejpn.2012.12.010. Epub 2013 Feb 14. Eur J Paediatr Neurol. 2013. PMID: 23416059

10

Rapid Detection of Fetal Mendelian Disorders: Thalassemia and Sickle Cell Syndromes.

Traeger-Synodinos J, Vrettou C, Kanavakis E. Traeger-Synodinos J, et al. Among authors: kanavakis e. Methods Mol Biol. 2019;1885:207-219. doi: 10.1007/978-1-4939-8889-1_14. Methods Mol Biol. 2019. PMID: 30506200

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