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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: yildirim r. J Clin Invest. 2020 Dec 1;130(12):6338-6353. doi: 10.1172/JCI141455. J Clin Invest. 2020. PMID: 33164986 Free PMC article.
Aromatase Deficiency due to a Novel Mutation in CYP19A1 Gene.
Unal E, Yıldırım R, Taş FF, Demir V, Onay H, Haspolat YK. Unal E, et al. Among authors: yildirim r. J Clin Res Pediatr Endocrinol. 2018 Nov 29;10(4):377-381. doi: 10.4274/jcrpe.0011. Epub 2018 Mar 19. J Clin Res Pediatr Endocrinol. 2018. PMID: 29553041 Free PMC article.
Subclinical hypothyroidism and long QT.
Akın A, Unal E, Yıldırım R, Türe M, Balık H, Haspolat YK. Akın A, et al. Among authors: yildirim r. Pacing Clin Electrophysiol. 2018 Sep;41(9):1277. doi: 10.1111/pace.13453. Epub 2018 Aug 7. Pacing Clin Electrophysiol. 2018. PMID: 30019377 No abstract available.
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. Among authors: yildirim r. 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.
207 results