Sofocleous C - Search Results

1

Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity.

Kekou K, Svingou M, Vogiatzakis N, Nitsa E, Veltra D, Marinakis NM, Tilemis FN, Tzetis M, Mitrakos A, Tsaroucha C, Selenti N, Papadimas GK, Papadopoulos C, Traeger-Synodinos J, Lochmuller H, Sofocleous C. Kekou K, et al. Among authors: sofocleous c. Expert Rev Mol Diagn. 2023 Jul-Dec;23(11):999-1010. doi: 10.1080/14737159.2023.2264181. Epub 2023 Oct 24. Expert Rev Mol Diagn. 2023. PMID: 37754746

2

Identification of three polymorphisms in the dystrophin gene.

Kekou K, Mavrou A, Sofocleous C, Metaxotou C. Kekou K, et al. Among authors: sofocleous c. Mol Cell Probes. 1999 Dec;13(6):453-4. doi: 10.1006/mcpr.1999.0272. Mol Cell Probes. 1999. PMID: 10657151

3

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

4

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

5

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

6

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

7

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

8

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

9

Mutation spectrum and phenotypic manifestation in FSHD Greek patients.

Sakellariou P, Kekou K, Fryssira H, Sofocleous C, Manta P, Panousopoulou A, Gounaris K, Kanavakis E. Sakellariou P, et al. Among authors: sofocleous c. Neuromuscul Disord. 2012 Apr;22(4):339-49. doi: 10.1016/j.nmd.2011.11.001. Epub 2012 Feb 21. Neuromuscul Disord. 2012. PMID: 22357364

10

Familial Pelizaeus-Merzbacher disease caused by a 320.6-kb Xq22.2 duplication and the pathological findings of a male fetus.

Kitsiou-Tzeli S, Konstantinidou A, Sofocleous C, Kosma K, Syrmou A, Giannikou K, Sifakis S, Makrythanasis P, Tzetis M. Kitsiou-Tzeli S, et al. Among authors: sofocleous c. Birth Defects Res A Clin Mol Teratol. 2012 Jun;94(6):494-8. doi: 10.1002/bdra.23015. Epub 2012 Apr 18. Birth Defects Res A Clin Mol Teratol. 2012. PMID: 22511562

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