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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
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.
Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from central Asia and was spread throughout Europe and Anatolia by human migrations.
Uyguner O, Goicoechea de Jorge E, Cefle A, Baykal T, Kayserili H, Cefle K, Demirkol M, Yuksel-Apak M, Rodriguez de Córdoba S, Wollnik B. Uyguner O, et al. J Inherit Metab Dis. 2003;26(1):17-23. doi: 10.1023/a:1024063126954. J Inherit Metab Dis. 2003. PMID: 12872836 Clinical Trial.
A large duplication involving the IHH locus mimics acrocallosal syndrome.
Yuksel-Apak M, Bögershausen N, Pawlik B, Li Y, Apak S, Uyguner O, Milz E, Nürnberg G, Karaman B, Gülgören A, Grzeschik KH, Nürnberg P, Kayserili H, Wollnik B. Yuksel-Apak M, et al. Among authors: uyguner o. Eur J Hum Genet. 2012 Jun;20(6):639-44. doi: 10.1038/ejhg.2011.250. Epub 2012 Jan 11. Eur J Hum Genet. 2012. PMID: 22234151 Free PMC article.
34 results