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Year Number of Results
2015 2
2016 5
2017 2
2018 4
2019 7
2020 1
2021 5
2022 4
2023 3
2024 2

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28 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
POU6F2 mutation in humans with pubertal failure alters GnRH transcript expression.
Cho HJ, Gurbuz F, Stamou M, Kotan LD, Farmer SM, Can S, Tompkins MF, Mammadova J, Altincik SA, Gokce C, Catli G, Bugrul F, Bartlett K, Turan I, Balasubramanian R, Yuksel B, Seminara SB, Wray S, Topaloglu AK. Cho HJ, et al. Among authors: turan i. Front Endocrinol (Lausanne). 2023 Aug 1;14:1203542. doi: 10.3389/fendo.2023.1203542. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37600690 Free PMC article.
PLXNB1 mutations in the etiology of idiopathic hypogonadotropic hypogonadism.
Welch BA, Cho HJ, Ucakturk SA, Farmer SM, Cetinkaya S, Abaci A, Akkus G, Simsek E, Kotan LD, Turan I, Gurbuz F, Yuksel B, Wray S, Topaloglu AK. Welch BA, et al. Among authors: turan i. J Neuroendocrinol. 2022 Apr;34(4):e13103. doi: 10.1111/jne.13103. Epub 2022 Feb 16. J Neuroendocrinol. 2022. PMID: 35170806
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.
Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations.
Akkuş G, Kotan LD, Durmaz E, Mengen E, Turan İ, Ulubay A, Gürbüz F, Yüksel B, Tetiker T, Topaloğlu AK. Akkuş G, et al. Among authors: turan i. J Clin Res Pediatr Endocrinol. 2017 Jun 1;9(2):95-100. doi: 10.4274/jcrpe.3908. Epub 2016 Dec 23. J Clin Res Pediatr Endocrinol. 2017. PMID: 28008864 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
Loss-of-function variants in SEMA3F and PLXNA3 encoding semaphorin-3F and its receptor plexin-A3 respectively cause idiopathic hypogonadotropic hypogonadism.
Kotan LD, Ternier G, Cakir AD, Emeksiz HC, Turan I, Delpouve G, Kardelen AD, Ozcabi B, Isik E, Mengen E, Cakir EDP, Yuksel A, Agladioglu SY, Dilek SO, Evliyaoglu O, Darendeliler F, Gurbuz F, Akkus G, Yuksel B, Giacobini P, Topaloglu AK. Kotan LD, et al. Among authors: turan i. Genet Med. 2021 Jun;23(6):1008-1016. doi: 10.1038/s41436-020-01087-5. Epub 2021 Jan 25. Genet Med. 2021. PMID: 33495532 Free PMC article.
28 results