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Human K(ATP) channelopathies: diseases of metabolic homeostasis.
Olson TM, Terzic A. Olson TM, et al. Pflugers Arch. 2010 Jul;460(2):295-306. doi: 10.1007/s00424-009-0771-y. Epub 2009 Dec 24. Pflugers Arch. 2010. PMID: 20033705 Free PMC article. Review.
Moreover, KATP channel defects underlie the triad of developmental delay, epilepsy, and neonatal diabetes (DEND syndrome). KATP channelopathies implicated in patients with mechanical and/or electrical heart disease include dilated cardiomyopathy (with ventricular ar …
Moreover, KATP channel defects underlie the triad of developmental delay, epilepsy, and neonatal diabetes (DEND syndrome). KAT …
Clinical features and partial proportional molecular genetics in neonatal diabetes mellitus: a retrospective analysis in southwestern China.
Cao L, He Y, Huang Q, Zhang Y, Deng P, Du W, Hua Z, Zhu M, Wei H. Cao L, et al. Endocrine. 2020 Jul;69(1):53-62. doi: 10.1007/s12020-020-02279-4. Epub 2020 Apr 11. Endocrine. 2020. PMID: 32279225
According to the clinical features and follow-up results, one case was diagnosed as IPEX syndrome, two as DEND syndrome, two as simple PNDM, and one as TNDM. All the TNDM could spontaneously alleviate and then insulin was withdrawn. ...
According to the clinical features and follow-up results, one case was diagnosed as IPEX syndrome, two as DEND syndrome, two a …
Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center.
Kim JH, Lee Y, Choi Y, Kim GH, Yoo HW, Choi JH. Kim JH, et al. BMC Pediatr. 2021 Mar 4;21(1):108. doi: 10.1186/s12887-021-02575-6. BMC Pediatr. 2021. PMID: 33663443 Free PMC article.
Among them, genetic etiologies were identified in 14 patients (5.1%) from 13 families, which included MODY 5, transient neonatal DM, developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome, Wolfram syndrome, Donohue syndrome, immune dysregulation, polye …
Among them, genetic etiologies were identified in 14 patients (5.1%) from 13 families, which included MODY 5, transient neonatal DM, develop …
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. 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.
Here we report three patients with neonatal diabetes; two with isolated pancreas agenesis due to mutations in the pancreas-specific transcription factor 1A (PTF1A) enhancer and one with developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome, due to a K …
Here we report three patients with neonatal diabetes; two with isolated pancreas agenesis due to mutations in the pancreas-specific transcri …
Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.
Flanagan SE, Edghill EL, Gloyn AL, Ellard S, Hattersley AT. Flanagan SE, et al. Diabetologia. 2006 Jun;49(6):1190-7. doi: 10.1007/s00125-006-0246-z. Epub 2006 Apr 12. Diabetologia. 2006. PMID: 16609879 Free article.
Five patients with developmental delay, epilepsy and neonatal diabetes (DEND) syndrome had unique mutations not associated with other phenotypes. ...
Five patients with developmental delay, epilepsy and neonatal diabetes (DEND) syndrome had unique mutations not associated wit …