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249 results

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Page 1
Clinical features of generalized lipodystrophy in Turkey: A cohort analysis.
Yildirim Simsir I, Tuysuz B, Ozbek MN, Tanrikulu S, Celik Guler M, Karhan AN, Denkboy Ongen Y, Gunes N, Soyaltin UE, Altay C, Nur B, Ozalkak S, Akgun Dogan O, Dursun F, Pekkolay Z, Eren MA, Usta Y, Ozisik S, Ozgen Saydam B, Adiyaman SC, Unal MC, Gungor Semiz G, Turan I, Eren E, Kayserili H, Jeru I, Vigouroux C, Atik T, Onay H, Ozen S, Arioglu Oral E, Akinci B. Yildirim Simsir I, et al. Among authors: turan i. Diabetes Obes Metab. 2023 Jul;25(7):1950-1963. doi: 10.1111/dom.15061. Epub 2023 Apr 11. Diabetes Obes Metab. 2023. PMID: 36946378
Natural history of ENPP1 deficiency: Nationwide Turkish Cohort Study of autosomal-recessive hypophosphataemic rickets type 2.
Dursun F, Turan İ, Bitkin EÇ, Bayramoğlu E, Çayır A, Erdeve ŞS, Çakır EDP, Çamtosun E, Dilek SO, Kırmızıbekmez H, Eser M, Türkyılmaz A, Karagüzel G. Dursun F, et al. Among authors: turan i. Clin Endocrinol (Oxf). 2024 Nov;101(5):475-484. doi: 10.1111/cen.15028. Epub 2024 Feb 7. Clin Endocrinol (Oxf). 2024. PMID: 38324408
17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort.
Siklar Z, Camtosun E, Bolu S, Yildiz M, Akinci A, Bas F, Dündar İ, Bestas A, Ünal E, Kocaay P, Guran T, Buyukyilmaz G, Ugurlu AK, Tosun BG, Turan I, Kurnaz E, Yuksel B, Turkkahraman D, Cayir A, Celmeli G, Gonc EN, Eklioğlu BS, Cetinkaya S, Yilmaz SK, Atabek ME, Buyukinan M, Arslan E, Mengen E, Cakir EDP, Karaoglan M, Hatipoglu N, Orbak Z, Ucar A, Akyurek N, Akbas ED, Isik E, Kaygusuz SB, Sutcu ZK, Seymen G, Berberoglu M. Siklar Z, et al. Among authors: turan i. Endocrine. 2024 Sep;85(3):1407-1416. doi: 10.1007/s12020-024-03962-6. Epub 2024 Jul 17. Endocrine. 2024. PMID: 39020240 Free PMC article.
Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1.
Kotan LD, Cooper C, Darcan Ş, Carr IM, Özen S, Yan Y, Hamedani MK, Gürbüz F, Mengen E, Turan İ, Ulubay A, Akkuş G, Yüksel B, Topaloğlu AK, Leygue E. Kotan LD, et al. Among authors: turan i. J Clin Res Pediatr Endocrinol. 2016 Jun 5;8(2):125-34. doi: 10.4274/jcrpe.3248. Epub 2016 Apr 18. J Clin Res Pediatr Endocrinol. 2016. PMID: 27086651 Free PMC article.
CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism.
Turan I, Hutchins BI, Hacihamdioglu B, Kotan LD, Gurbuz F, Ulubay A, Mengen E, Yuksel B, Wray S, Topaloglu AK. Turan I, et al. J Clin Endocrinol Metab. 2017 Jun 1;102(6):1816-1825. doi: 10.1210/jc.2016-3391. J Clin Endocrinol Metab. 2017. PMID: 28324054 Free PMC article.
A novel homozygous nonsense NDNF variant in Kallmann syndrome.
Kotan LD, Yildiz M, Turan I, Celiloglu C, Yuksel B, Topaloglu AK. Kotan LD, et al. Among authors: turan i. Am J Med Genet A. 2023 Mar;191(3):831-834. doi: 10.1002/ajmg.a.63066. Epub 2022 Dec 1. Am J Med Genet A. 2023. PMID: 36454653
249 results