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Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation.
Evliyaoğlu O, Ercan O, Ataoğlu E, Zübarioğlu Ü, Özcabı B, Dağdeviren A, Erdoğan H, De Franco E, Ellard S. Evliyaoğlu O, et al. Among authors: de franco e. J Clin Res Pediatr Endocrinol. 2018 Jun 1;10(2):168-174. doi: 10.4274/jcrpe.5162. Epub 2017 Sep 25. J Clin Res Pediatr Endocrinol. 2018. PMID: 28943513 Free PMC article.
A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes.
Gole E, Oikonomou S, Ellard S, De Franco E, Karavanaki K. Gole E, et al. Among authors: de franco e. J Clin Res Pediatr Endocrinol. 2018 Jun 1;10(2):175-178. doi: 10.4274/jcrpe.5166. Epub 2017 Sep 25. J Clin Res Pediatr Endocrinol. 2018. PMID: 28943514 Free PMC article.
Transient neonatal diabetes due to a disease causing novel variant in the ATP-binding cassette subfamily C member 8 (ABCC8) gene unmasks maturity-onset diabetes of the young (MODY) diabetes cases within a family.
Giannopoulou EZ, Ovcarov O, De Franco E, Kassberger F, Nusser S, Otto MC, Denzer C, Wabitsch M. Giannopoulou EZ, et al. Among authors: de franco e. J Pediatr Endocrinol Metab. 2020 Nov 13;34(2):273-276. doi: 10.1515/jpem-2020-0462. Print 2021 Feb 23. J Pediatr Endocrinol Metab. 2020. PMID: 33185579
Genetic mutations associated with neonatal diabetes mellitus in Omani patients.
Al Senani A, Hamza N, Al Azkawi H, Al Kharusi M, Al Sukaiti N, Al Badi M, Al Yahyai M, Johnson M, De Franco E, Flanagan S, Hattersley A, Ellard S, Mula-Abed WA. Al Senani A, et al. Among authors: de franco e. J Pediatr Endocrinol Metab. 2018 Jan 26;31(2):195-204. doi: 10.1515/jpem-2017-0284. J Pediatr Endocrinol Metab. 2018. PMID: 29329106 Free PMC article.
248 results