Traeger-Synodinos J - Search Results

1

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. 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

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

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. 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. 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

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.

6

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

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

7

Two novel variants in the TCF12 gene identified in cases with craniosynostosis.

Goumenos A, Tsoutsou E, Traeger-Synodinos J, Petychakis D, Gavra M, Kolialexi A, Frysira H. Goumenos A, et al. Appl Clin Genet. 2019 Feb 12;12:19-25. doi: 10.2147/TACG.S190855. eCollection 2019. Appl Clin Genet. 2019. PMID: 30858722 Free PMC article.

8

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. J Neuromuscul Dis. 2020;7(3):247-256. doi: 10.3233/JND-190466. J Neuromuscul Dis. 2020. PMID: 32417790 Free PMC article.

9

A new gene associated with a β-thalassemia phenotype: the observation of variants in SUPT5H.

Achour A, Koopmann T, Castel R, Santen GWE, den Hollander N, Knijnenburg J, Ruivenkamp CAL, Arkesteijn SGJ, Ter Huurne J, Bisoen S, Verschuren M, Vijfhuizen L, Schaap R, Grimbergen A, Slomp J, Traeger-Synodinos J, Vrettou C, Pissard S, Galacteros F, Baas F, Harteveld CL. Achour A, et al. Blood. 2020 Oct 8;136(15):1789-1793. doi: 10.1182/blood.2020005934. Blood. 2020. PMID: 32589702 Free article. No abstract available.

10

Case Report: A Novel Synonymous ARPC1B Gene Mutation Causes a Syndrome of Combined Immunodeficiency, Asthma, and Allergy With Significant Intrafamilial Clinical Heterogeneity.

Papadatou I, Marinakis N, Botsa E, Tzanoudaki M, Kanariou M, Orfanou I, Kanaka-Gantenbein C, Traeger-Synodinos J, Spoulou V. Papadatou I, et al. Front Immunol. 2021 Feb 19;12:634313. doi: 10.3389/fimmu.2021.634313. eCollection 2021. Front Immunol. 2021. PMID: 33679784 Free PMC article.

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