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Page 1
Truncated prelamin A expression in HGPS-like patients: a transcriptional study.
Barthélémy F, Navarro C, Fayek R, Da Silva N, Roll P, Sigaudy S, Oshima J, Bonne G, Papadopoulou-Legbelou K, Evangeliou AE, Spilioti M, Lemerrer M, Wevers RA, Morava E, Robaglia-Schlupp A, Lévy N, Bartoli M, De Sandre-Giovannoli A. Barthélémy F, et al. Among authors: evangeliou ae. Eur J Hum Genet. 2015 Aug;23(8):1051-61. doi: 10.1038/ejhg.2014.239. Epub 2015 Feb 4. Eur J Hum Genet. 2015. PMID: 25649378 Free PMC article.
Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.
Veltra D, Tilemis FN, Marinakis NM, Svingou M, Mitrakos A, Kosma K, Tsoutsou I, Makrythanasis P, Theodorou V, Katsalouli M, Vorgia P, Niotakis G, Vartzelis G, Dinopoulos A, Evangeliou A, Mouskou S, Korona A, Mastroyianni S, Papavasiliou A, Tzetis M, Pons R, Traeger-Synodinos J, Sofocleous C. Veltra D, et al. Expert Rev Mol Diagn. 2023 Jan;23(1):85-103. doi: 10.1080/14737159.2023.2173578. Epub 2023 Feb 14. Expert Rev Mol Diagn. 2023. PMID: 36714946
Effectiveness of a Robot-Assisted Psychological Intervention for Children with Autism Spectrum Disorder.
Holeva V, Nikopoulou VA, Lytridis C, Bazinas C, Kechayas P, Sidiropoulos G, Papadopoulou M, Kerasidou MD, Karatsioras C, Geronikola N, Papakostas GA, Kaburlasos VG, Evangeliou A. Holeva V, et al. J Autism Dev Disord. 2024 Feb;54(2):577-593. doi: 10.1007/s10803-022-05796-5. Epub 2022 Nov 4. J Autism Dev Disord. 2024. PMID: 36331688 Free PMC article. Clinical Trial.
Strabismus and nystagmus in a 4-year-old boy.
Raissaki M, Spilioti M, Kalaidopoulou P, Iliaki O, Mavrokosta M, Nikolaidis N, Evangeliou A. Raissaki M, et al. Pediatr Ann. 2008 Sep;37(9):590-3. doi: 10.3928/00904481-20080901-03. Pediatr Ann. 2008. PMID: 18795568 No abstract available.
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.
Lefeber DJ, Schönberger J, Morava E, Guillard M, Huyben KM, Verrijp K, Grafakou O, Evangeliou A, Preijers FW, Manta P, Yildiz J, Grünewald S, Spilioti M, van den Elzen C, Klein D, Hess D, Ashida H, Hofsteenge J, Maeda Y, van den Heuvel L, Lammens M, Lehle L, Wevers RA. Lefeber DJ, et al. Am J Hum Genet. 2009 Jul;85(1):76-86. doi: 10.1016/j.ajhg.2009.06.006. Epub 2009 Jul 2. Am J Hum Genet. 2009. PMID: 19576565 Free PMC article.
Ketogenic diet in a patient with Angelman syndrome.
Evangeliou A, Doulioglou V, Haidopoulou K, Aptouramani M, Spilioti M, Varlamis G. Evangeliou A, et al. Pediatr Int. 2010 Oct;52(5):831-4. doi: 10.1111/j.1442-200X.2010.03118.x. Pediatr Int. 2010. PMID: 20880305 No abstract available.
Evaluation of Oral Glucose Tolerance Test in Children With Epilepsy.
Varlamis S, Vavatsi N, Pavlou E, Kotsis V, Spilioti M, Kavga M, Varlamis G, Sotiriadou F, Agakidou E, Voutoufianakis S, Evangeliou AE. Varlamis S, et al. Among authors: evangeliou ae. J Child Neurol. 2013 Nov;28(11):1437-1442. doi: 10.1177/0883073812460919. Epub 2012 Oct 15. J Child Neurol. 2013. PMID: 23071070
Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD).
Spilioti M, Evangeliou AE, Tramma D, Theodoridou Z, Metaxas S, Michailidi E, Bonti E, Frysira H, Haidopoulou A, Asprangathou D, Tsalkidis AJ, Kardaras P, Wevers RA, Jakobs C, Gibson KM. Spilioti M, et al. Among authors: evangeliou ae. Front Hum Neurosci. 2013 Dec 24;7:858. doi: 10.3389/fnhum.2013.00858. eCollection 2013. Front Hum Neurosci. 2013. PMID: 24399946 Free PMC article.
69 results