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Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.
Flanagan SE, Xie W, Caswell R, Damhuis A, Vianey-Saban C, Akcay T, Darendeliler F, Bas F, Guven A, Siklar Z, Ocal G, Berberoglu M, Murphy N, O'Sullivan M, Green A, Clayton PE, Banerjee I, Clayton PT, Hussain K, Weedon MN, Ellard S. Flanagan SE, et al. Among authors: akcay t. Am J Hum Genet. 2013 Jan 10;92(1):131-6. doi: 10.1016/j.ajhg.2012.11.017. Epub 2012 Dec 27. Am J Hum Genet. 2013. PMID: 23273570 Free PMC article.
Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.
Flanagan SE, Kapoor RR, Mali G, Cody D, Murphy N, Schwahn B, Siahanidou T, Banerjee I, Akcay T, Rubio-Cabezas O, Shield JP, Hussain K, Ellard S. Flanagan SE, et al. Among authors: akcay t. Eur J Endocrinol. 2010 May;162(5):987-92. doi: 10.1530/EJE-09-0861. Epub 2010 Feb 17. Eur J Endocrinol. 2010. PMID: 20164212 Free PMC article.
Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees.
Flanagan SE, Patch AM, Locke JM, Akcay T, Simsek E, Alaei M, Yekta Z, Desai M, Kapoor RR, Hussain K, Ellard S. Flanagan SE, et al. Among authors: akcay t. J Clin Endocrinol Metab. 2011 Mar;96(3):E498-502. doi: 10.1210/jc.2010-1906. Epub 2011 Jan 20. J Clin Endocrinol Metab. 2011. PMID: 21252247 Free PMC article.
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
Raimondo A, Chakera AJ, Thomsen SK, Colclough K, Barrett A, De Franco E, Chatelas A, Demirbilek H, Akcay T, Alawneh H; International NDM Consortium; Flanagan SE, Van De Bunt M, Hattersley AT, Gloyn AL, Ellard S; International NDM Consortium. Raimondo A, et al. Among authors: akcay t. Hum Mol Genet. 2014 Dec 15;23(24):6432-40. doi: 10.1093/hmg/ddu360. Epub 2014 Jul 11. Hum Mol Genet. 2014. PMID: 25015100 Free PMC article.
Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics.
Patel KA, Ozbek MN, Yildiz M, Guran T, Kocyigit C, Acar S, Siklar Z, Atar M, Colclough K, Houghton J, Johnson MB, Ellard S, Flanagan SE, Cizmecioglu F, Berberoglu M, Demir K, Catli G, Bas S, Akcay T, Demirbilek H, Weedon MN, Hattersley AT. Patel KA, et al. Among authors: akcay t. Diabetologia. 2022 Feb;65(2):336-342. doi: 10.1007/s00125-021-05597-y. Epub 2021 Oct 23. Diabetologia. 2022. PMID: 34686905 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.
Current practice in diagnosis and treatment of growth hormone deficiency in childhood: a survey from Turkey.
Poyrazoğlu Ş, Akçay T, Arslanoğlu İ, Atabek ME, Atay Z, Berberoğlu M, Bereket A, Bideci A, Bircan İ, Böber E, Can Ş, Cesur Y, Darcan Ş, Demir K, Dündar B, Ersoy B, Esen İ, Güven A, Kara C, Keskin M, Kurtoğlu S, Memioğlu N, Özbek MN, Özgen T, Sarı E, Şıklar Z, Şimşek E, Turan S, Yeşilkaya E, Yüksel B, Darendeliler F. Poyrazoğlu Ş, et al. Among authors: akcay t. J Clin Res Pediatr Endocrinol. 2015 Mar;7(1):37-44. doi: 10.4274/jcrpe.1794. J Clin Res Pediatr Endocrinol. 2015. PMID: 25800474 Free PMC article.
110 results