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A novel PSEN2 p.Ser175Phe variant in a family with Alzheimer's disease.
Guven G, Samanci B, Gulec C, Hanagasi H, Gurvit H, Gokalp EE, Tepgec F, Guler S, Uyguner O, Bilgic B. Guven G, et al. Among authors: uyguner o. Neurol Sci. 2021 Jun;42(6):2497-2504. doi: 10.1007/s10072-021-05243-w. Epub 2021 Apr 15. Neurol Sci. 2021. PMID: 33855622
Frequency of frontotemporal dementia-related gene variants in Turkey.
Artan S, Erzurumluoglu Gokalp E, Samanci B, Ozbabalik Adapinar D, Bas H, Tepgec F, Qomi Ekenel E, Cilingir O, Bilgic B, Gurvit H, Hanagasi HA, Kocagil S, Durak Aras B, Uyguner O, Emre M. Artan S, et al. Among authors: uyguner o. Neurobiol Aging. 2021 Oct;106:332.e1-332.e11. doi: 10.1016/j.neurobiolaging.2021.05.007. Epub 2021 May 23. Neurobiol Aging. 2021. PMID: 34162492
A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations.
Kardelen AD, Toksoy G, Baş F, Yavaş Abalı Z, Gençay G, Poyrazoğlu Ş, Bundak R, Altunoğlu U, Avcı Ş, Najaflı A, Uyguner O, Karaman B, Başaran S, Darendeliler F. Kardelen AD, et al. Among authors: uyguner o. J Clin Res Pediatr Endocrinol. 2018 Jul 31;10(3):206-215. doi: 10.4274/jcrpe.0032. Epub 2018 Mar 29. J Clin Res Pediatr Endocrinol. 2018. PMID: 29595516 Free PMC article.
Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD.
Akcan N, Uyguner O, Baş F, Altunoğlu U, Toksoy G, Karaman B, Avcı Ş, Yavaş Abalı Z, Poyrazoğlu Ş, Aghayev A, Karaman V, Bundak R, Başaran S, Darendeliler F. Akcan N, et al. Among authors: uyguner o. J Clin Res Pediatr Endocrinol. 2022 Jun 7;14(2):153-171. doi: 10.4274/jcrpe.galenos.2022.2021-9-19. Epub 2022 Feb 9. J Clin Res Pediatr Endocrinol. 2022. PMID: 35135181 Free PMC article.
Clinical and radiological features in CADASIL and NOTCH3-negative patients: a multicenter study from Turkey.
Ince B, Benbir G, Siva A, Saip S, Utku U, Celik Y, Necioglu-Orken D, Ozturk S, Afsar N, Aktan S, Asil T, Bakac G, Ekmekci H, Gokce M, Krespi Y, Midi I, Varlibas F, Citci-Yalcinkaya B, Goksan B, Uluduz D, Uyguner O. Ince B, et al. Among authors: uyguner o. Eur Neurol. 2014;72(3-4):125-31. doi: 10.1159/000360530. Epub 2014 Jul 30. Eur Neurol. 2014. PMID: 25095812
38 results