Sofocleous C - Search Results

1

The current clinical applications of preimplantation genetic testing (PGT): acknowledging the limitations of biology and technology.

Kakourou G, Sofocleous C, Mamas T, Vrettou C, Traeger-Synodinos J. Kakourou G, et al. Among authors: sofocleous c. Expert Rev Mol Diagn. 2024 Sep;24(9):767-775. doi: 10.1080/14737159.2024.2390187. Epub 2024 Aug 11. Expert Rev Mol Diagn. 2024. PMID: 39107971 Review.

2

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: sofocleous c. Hum Mutat. 2004 May;23(5):513-21. doi: 10.1002/humu.20022. Hum Mutat. 2004. PMID: 15108284

3

PGD for X-linked and gender-dependent disorders using a robust, flexible single-tube PCR protocol.

Christofidou C, Sofocleous C, Vrettou C, Destouni A, Traeger-Synodinos J, Kekou K, Palmer G, Kokkali G, Mavrou A, Kitsiou S, Kanavakis E. Christofidou C, et al. Among authors: sofocleous c. Reprod Biomed Online. 2009 Sep;19(3):418-25. doi: 10.1016/s1472-6483(10)60178-2. Reprod Biomed Online. 2009. PMID: 19778490

4

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: sofocleous c. Pediatr Res. 2010 May;67(5):551-6. doi: 10.1203/PDR.0b013e3181d4ecf7. Pediatr Res. 2010. PMID: 20098342

5

De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature.

Kitsiou-Tzeli S, Tzetis M, Sofocleous C, Vrettou C, Xaidara A, Giannikou K, Pampanos A, Mavrou A, Kanavakis E. Kitsiou-Tzeli S, et al. Among authors: sofocleous c. Am J Med Genet A. 2010 Aug;152A(8):1925-32. doi: 10.1002/ajmg.a.33447. Am J Med Genet A. 2010. PMID: 20575009

6

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: sofocleous c. 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

7

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: sofocleous c. Gene. 2012 Jan 15;492(1):319-24. doi: 10.1016/j.gene.2011.10.023. Epub 2011 Oct 20. Gene. 2012. PMID: 22037486

8

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: sofocleous c. Psychiatr Genet. 2013 Oct;23(5):198-203. doi: 10.1097/YPG.0b013e3283643644. Psychiatr Genet. 2013. PMID: 23851596

9

Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years.

Kekou K, Svingou M, Sofocleous C, Mourtzi N, Nitsa E, Konstantinidis G, Youroukos S, Skiadas K, Katsalouli M, Pons R, Papavasiliou A, Kotsalis C, Pavlou E, Evangeliou A, Katsarou E, Voudris K, Dinopoulos A, Vorgia P, Niotakis G, Diamantopoulos N, Nakou I, Koute V, Vartzelis G, Papadimas GK, Papadopoulos C, Tsivgoulis G, Traeger-Synodinos J. Kekou K, et al. Among authors: sofocleous c. J Neuromuscul Dis. 2020;7(3):247-256. doi: 10.3233/JND-190466. J Neuromuscul Dis. 2020. PMID: 32417790 Free PMC article.

10

Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.

Marinakis NM, Svingou M, Veltra D, Kekou K, Sofocleous C, Tilemis FN, Kosma K, Tsoutsou E, Fryssira H, Traeger-Synodinos J. Marinakis NM, et al. Among authors: sofocleous c. Am J Med Genet A. 2021 Aug;185(8):2561-2571. doi: 10.1002/ajmg.a.62338. Epub 2021 May 19. Am J Med Genet A. 2021. PMID: 34008892

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