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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
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 novel semiquantitative polymerase chain reaction/enzyme digestion-based method for detection of large scale deletions/conversions of the CYP21 gene and mutation screening in Turkish families with 21-hydroxylase deficiency.
Tukel T, Uyguner O, Wei JQ, Yuksel-Apak M, Saka N, Song DX, Kayserili H, Bas F, Gunoz H, Wilson RC, New MI, Wollnik B. Tukel T, et al. Among authors: uyguner o. J Clin Endocrinol Metab. 2003 Dec;88(12):5893-7. doi: 10.1210/jc.2003-030813. J Clin Endocrinol Metab. 2003. PMID: 14671187
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.
38 results