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Page 1
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: cakir edp. 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.
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: cakir edp. Clin Endocrinol (Oxf). 2024 Nov;101(5):475-484. doi: 10.1111/cen.15028. Epub 2024 Feb 7. Clin Endocrinol (Oxf). 2024. PMID: 38324408
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: cakir edp. 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.
15 results