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Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.
Schlingmann KP, Ruminska J, Kaufmann M, Dursun I, Patti M, Kranz B, Pronicka E, Ciara E, Akcay T, Bulus D, Cornelissen EA, Gawlik A, Sikora P, Patzer L, Galiano M, Boyadzhiev V, Dumic M, Vivante A, Kleta R, Dekel B, Levtchenko E, Bindels RJ, Rust S, Forster IC, Hernando N, Jones G, Wagner CA, Konrad M. Schlingmann KP, et al. Among authors: akcay t. J Am Soc Nephrol. 2016 Feb;27(2):604-14. doi: 10.1681/ASN.2014101025. Epub 2015 Jun 5. J Am Soc Nephrol. 2016. PMID: 26047794 Free PMC article.
Expanding the Clinical Spectrum Associated With GLIS3 Mutations.
Dimitri P, Habeb AM, Gurbuz F, Millward A, Wallis S, Moussa K, Akcay T, Taha D, Hogue J, Slavotinek A, Wales JK, Shetty A, Hawkes D, Hattersley AT, Ellard S, De Franco E. Dimitri P, et al. Among authors: akcay t. J Clin Endocrinol Metab. 2015 Oct;100(10):E1362-9. doi: 10.1210/jc.2015-1827. Epub 2015 Aug 10. J Clin Endocrinol Metab. 2015. PMID: 26259131 Free PMC article.
Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.
Guran T, Tolhurst G, Bereket A, Rocha N, Porter K, Turan S, Gribble FM, Kotan LD, Akcay T, Atay Z, Canan H, Serin A, O'Rahilly S, Reimann F, Semple RK, Topaloglu AK. Guran T, et al. Among authors: akcay t. J Clin Endocrinol Metab. 2009 Oct;94(10):3633-3639. doi: 10.1210/jc.2009-0551. Epub 2009 Sep 15. J Clin Endocrinol Metab. 2009. PMID: 19755480 Free PMC article.
Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort.
Guran T, Buonocore F, Saka N, Ozbek MN, Aycan Z, Bereket A, Bas F, Darcan S, Bideci A, Guven A, Demir K, Akinci A, Buyukinan M, Aydin BK, Turan S, Agladioglu SY, Atay Z, Abali ZY, Tarim O, Catli G, Yuksel B, Akcay T, Yildiz M, Ozen S, Doger E, Demirbilek H, Ucar A, Isik E, Ozhan B, Bolu S, Ozgen IT, Suntharalingham JP, Achermann JC. Guran T, et al. Among authors: akcay t. J Clin Endocrinol Metab. 2016 Jan;101(1):284-92. doi: 10.1210/jc.2015-3250. Epub 2015 Nov 2. J Clin Endocrinol Metab. 2016. PMID: 26523528 Free PMC article.
Characteristics of Turkish children with Type 2 diabetes at onset: a multicentre, cross-sectional study.
Hatun S, Yesiltepe Mutlu G, Cinaz P, Turan S, Ekberzade A, Bereket A, Erbas MY, Akcay T, Onal H, Bolu S, Arslanoglu I, Doger E, Yilmaz AA, Ucakturk A, Karabulut GS, Tuhan HÜ, Demir K, Erdeve SS, Aycan Z, Nalbantoğlu Ö, Kara C, Gungor N; turkish type 2 diabetes research group. Hatun S, et al. Among authors: akcay t. Diabet Med. 2019 Oct;36(10):1243-1250. doi: 10.1111/dme.14038. Epub 2019 Jul 4. Diabet Med. 2019. PMID: 31099079
110 results