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YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress.
De Franco E, Lytrivi M, Ibrahim H, Montaser H, Wakeling MN, Fantuzzi F, Patel K, Demarez C, Cai Y, Igoillo-Esteve M, Cosentino C, Lithovius V, Vihinen H, Jokitalo E, Laver TW, Johnson MB, Sawatani T, Shakeri H, Pachera N, Haliloglu B, Ozbek MN, Unal E, Yıldırım R, Godbole T, Yildiz M, Aydin B, Bilheu A, Suzuki I, Flanagan SE, Vanderhaeghen P, Senée V, Julier C, Marchetti P, Eizirik DL, Ellard S, Saarimäki-Vire J, Otonkoski T, Cnop M, Hattersley AT. De Franco E, et al. Among authors: ozbek mn. J Clin Invest. 2020 Dec 1;130(12):6338-6353. doi: 10.1172/JCI141455. J Clin Invest. 2020. PMID: 33164986 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. Among authors: ozbek mn. 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. Among authors: ozbek mn. 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.
Sirolimus-Induced Hepatitis in Two Patients with Hyperinsulinemic Hypoglycemia.
Haliloğlu B, Tüzün H, Flanagan SE, Çelik M, Kaya A, Ellard S, Özbek MN. Haliloğlu B, et al. Among authors: ozbek mn. J Clin Res Pediatr Endocrinol. 2018 Jul 31;10(3):279-283. doi: 10.4274/jcrpe.5335. Epub 2017 Dec 8. J Clin Res Pediatr Endocrinol. 2018. PMID: 29217498 Free PMC article.
Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the GLI2 Gene.
Demiral M, Demirbilek H, Unal E, Durmaz CD, Ceylaner S, Özbek MN. Demiral M, et al. Among authors: ozbek mn. J Clin Res Pediatr Endocrinol. 2020 Sep 2;12(3):319-328. doi: 10.4274/jcrpe.galenos.2019.2019.0142. Epub 2019 Nov 29. J Clin Res Pediatr Endocrinol. 2020. PMID: 31782289 Free PMC article.
Evaluation of the Final Adult Height and Its Determinants in Patients with Growth Hormone Deficiency: A Single-centre Experience from the South-Eastern Region of Turkey.
Demiral M, Unal E, Baysal B, Baran RT, Demirbilek H, Özbek MN. Demiral M, et al. Among authors: ozbek mn. J Clin Res Pediatr Endocrinol. 2020 Sep 2;12(3):295-302. doi: 10.4274/jcrpe.galenos.2020.2019.0218. Epub 2020 Mar 11. J Clin Res Pediatr Endocrinol. 2020. PMID: 32157854 Free PMC article.
80 results