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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: demirbilek h. 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.
Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations.
Demirbilek H, Arya VB, Ozbek MN, Akinci A, Dogan M, Demirel F, Houghton J, Kaba S, Guzel F, Baran RT, Unal S, Tekkes S, Flanagan SE, Ellard S, Hussain K. Demirbilek H, et al. Eur J Endocrinol. 2014 Jun;170(6):885-92. doi: 10.1530/EJE-14-0045. Epub 2014 Mar 31. Eur J Endocrinol. 2014. PMID: 24686051
Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations.
Demirbilek H, Arya VB, Ozbek MN, Houghton JA, Baran RT, Akar M, Tekes S, Tuzun H, Mackay DJ, Flanagan SE, Hattersley AT, Ellard S, Hussain K. Demirbilek H, et al. Eur J Endocrinol. 2015 Jun;172(6):697-705. doi: 10.1530/EJE-14-0852. Epub 2015 Mar 9. Eur J Endocrinol. 2015. PMID: 25755231 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: demirbilek h. 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.
Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations.
Demirbilek H, Cayir A, Flanagan SE, Yıldırım R, Kor Y, Gurbuz F, Haliloğlu B, Yıldız M, Baran RT, Akbas ED, Demiral M, Ünal E, Arslan G, Vuralli D, Buyukyilmaz G, Al-Khawaga S, Saeed A, Al Maadheed M, Khalifa A, Onal H, Yuksel B, Ozbek MN, Bereket A, Hattersley AT, Hussain K, De Franco E. Demirbilek H, et al. J Clin Endocrinol Metab. 2020 Dec 1;105(12):e4351-9. doi: 10.1210/clinem/dgaa613. J Clin Endocrinol Metab. 2020. PMID: 32893856 Free PMC article.
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