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ALX4 related parietal foramina mimicking encephalocele in prenatal period.
Saraç Sivrikoz T, Altunoglu U, Kalelioglu İH, Yüksel A, Uyguner OZ, Has R, Kayserili H. Saraç Sivrikoz T, et al. Among authors: uyguner oz. Prenat Diagn. 2016 Jun;36(6):591-3. doi: 10.1002/pd.4826. Epub 2016 May 17. Prenat Diagn. 2016. PMID: 27080046 No abstract available.
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. J Clin Endocrinol Metab. 2003 Dec;88(12):5893-7. doi: 10.1210/jc.2003-030813. J Clin Endocrinol Metab. 2003. PMID: 14671187
A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats.
Chung BD, Kayserili H, Ai M, Freudenberg J, Uzümcü A, Uyguner O, Bartels CF, Höning S, Ramirez A, Hanisch FG, Nürnberg G, Nürnberg P, Warman ML, Wollnik B, Kubisch C, Netzer C. Chung BD, et al. Hum Mutat. 2009 Apr;30(4):641-8. doi: 10.1002/humu.20916. Hum Mutat. 2009. PMID: 19177549
36 results