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Year Number of Results
2004 3
2005 1
2008 1
2009 2
2010 2
2011 2
2012 5
2013 4
2014 1
2015 2
2016 3
2017 2
2019 1
2020 2
2021 2
2022 4
2023 6
2024 2

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42 results

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Page 1
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fak… See abstract for full author list ➔ Saffari A, et al. Among authors: sofocleous c. Brain. 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039. Brain. 2023. PMID: 36757831 Free PMC article.
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
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Pavinato L, Delle Vedove A, Carli D, Ferrero M, Carestiato S, Howe JL, Agolini E, Coviello DA, van de Laar I, Au PYB, Di Gregorio E, Fabbiani A, Croci S, Mencarelli MA, Bruno LP, Renieri A, Veltra D, Sofocleous C, Faivre L, Mazel B, Safraou H, Denommé-Pichon AS, van Slegtenhorst MA, Giesbertz N, van Jaarsveld RH, Childers A, Rogers RC, Novelli A, De Rubeis S, Buxbaum JD, Scherer SW, Ferrero GB, Wirth B, Brusco A. Pavinato L, et al. Among authors: sofocleous c. Brain. 2023 Feb 13;146(2):534-548. doi: 10.1093/brain/awac278. Brain. 2023. PMID: 35979925 Free PMC article.
Cantú Syndrome Associated with Ovarian Agenesis.
Fryssira H, Psoni S, Amenta S, Tsoutsou E, Sofocleous C, Manolakos E, Gavra M, Lüdecke HJ, Czeschik JC. Fryssira H, et al. Among authors: sofocleous c. Mol Syndromol. 2017 Jun;8(4):206-210. doi: 10.1159/000471247. Epub 2017 May 10. Mol Syndromol. 2017. PMID: 28690487 Free PMC article.
A Greek National Cross-Sectional Study on Myotonic Dystrophies.
Papadimas GK, Papadopoulos C, Kekou K, Kartanou C, Kladi A, Nitsa E, Sofocleous C, Tsanou E, Sarmas I, Kaninia S, Chroni E, Tsivgoulis G, Kimiskidis V, Arnaoutoglou M, Stefanis L, Panas M, Koutsis G, Karadima G, Traeger-Synodinos J. Papadimas GK, et al. Among authors: sofocleous c. Int J Mol Sci. 2022 Dec 7;23(24):15507. doi: 10.3390/ijms232415507. Int J Mol Sci. 2022. PMID: 36555146 Free PMC article.
UBE3A, c.1347_1348delGA: a mutation in question.
Sofocleous C, Tzagkaraki E, Kosma K, Kanavakis E, Kitsiou-Tzeli S. Sofocleous C, et al. Clin Chem Lab Med. 2016 Apr;54(4):e143-4. doi: 10.1515/cclm-2015-0784. Clin Chem Lab Med. 2016. PMID: 26457786 No abstract available.
Impact of α-Globin Gene Expression and α-Globin Modifiers on the Phenotype of β-Thalassemia and Other Hemoglobinopathies: Implications for Patient Management.
Traeger-Synodinos J, Vrettou C, Sofocleous C, Zurlo M, Finotti A, Gambari R; International Hemoglobinopathy Research Network (INHERENT). Traeger-Synodinos J, et al. Among authors: sofocleous c. Int J Mol Sci. 2024 Mar 17;25(6):3400. doi: 10.3390/ijms25063400. Int J Mol Sci. 2024. PMID: 38542374 Free PMC article. Review.
42 results