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Quoted phrase not found in phrase index: "Diabetes mellitus, permanent neonatal 3"
Page 1
Permanent neonatal diabetes mellitus: prevalence and genetic diagnosis in the SEARCH for Diabetes in Youth Study.
Kanakatti Shankar R, Pihoker C, Dolan LM, Standiford D, Badaru A, Dabelea D, Rodriguez B, Black MH, Imperatore G, Hattersley A, Ellard S, Gilliam LK; SEARCH for Diabetes in Youth Study Group. Kanakatti Shankar R, et al. Pediatr Diabetes. 2013 May;14(3):174-80. doi: 10.1111/pedi.12003. Epub 2012 Oct 10. Pediatr Diabetes. 2013. PMID: 23050777 Free PMC article.
A novel mutation in INS gene linked to permanent neonatal diabetes mellitus.
Wang T, Ding S, Li S, Guo H, Chen X, Huang Y, Huang J, Wu J, Hu C, Fang C, Hu J. Wang T, et al. Endocrine. 2019 Jun;64(3):719-723. doi: 10.1007/s12020-019-01905-0. Epub 2019 Mar 26. Endocrine. 2019. PMID: 30915639
The pathogenicity of the mutation was determined by using online prediction programs SIFT and Mutation Taser. The conformational alterations which contribute to the change of protein function were analyzed at the structural level. ...
The pathogenicity of the mutation was determined by using online prediction programs SIFT and Mutation Taser. The conformational alte …
Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes.
Babiker T, Vedovato N, Patel K, Thomas N, Finn R, Männikkö R, Chakera AJ, Flanagan SE, Shepherd MH, Ellard S, Ashcroft FM, Hattersley AT. Babiker T, et al. Diabetologia. 2016 Jun;59(6):1162-6. doi: 10.1007/s00125-016-3921-8. Epub 2016 Mar 31. Diabetologia. 2016. PMID: 27033559 Free PMC article.
CONCLUSIONS/INTERPRETATION: Transfer from insulin is successful for most KCNJ11 patients and is best predicted by the in vitro response of the specific mutation and the duration of diabetes. Knowledge of the specific mutation and of diabetes duration can help predict …
CONCLUSIONS/INTERPRETATION: Transfer from insulin is successful for most KCNJ11 patients and is best predicted by the in vitro respon …
Identification of insulin gene variants in patients with neonatal diabetes in the Chinese population.
Fu J, Wang T, Li M, Xiao X. Fu J, et al. J Diabetes Investig. 2020 May;11(3):578-584. doi: 10.1111/jdi.13156. Epub 2019 Oct 25. J Diabetes Investig. 2020. PMID: 31605659 Free PMC article.
The pathogenicity of the mutations was determined based on the American College of Medical Genetics and Genomics, and the structure of wild-type and mutant proteins was predicted using the web-based tool, Phyre2. RESULTS: One novel mutation (p.I99_C100insSI) and three prev …
The pathogenicity of the mutations was determined based on the American College of Medical Genetics and Genomics, and the structure of wild- …
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.
Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder.
Shalev SA, Tenenbaum-Rakover Y, Horovitz Y, Paz VP, Ye H, Carmody D, Highland HM, Boerwinkle E, Hanis CL, Muzny DM, Gibbs RA, Bell GI, Philipson LH, Greeley SA. Shalev SA, et al. Pediatr Diabetes. 2014 May;15(3):252-6. doi: 10.1111/pedi.12086. Epub 2013 Oct 21. Pediatr Diabetes. 2014. PMID: 24138066 Free PMC article.
He experienced a slow improvement but not abrogation of seizure frequency and severity on numerous anti-epileptic agents. His clinical course was further complicated by recurrent respiratory tract infections and he died at 8 years of age. ...
He experienced a slow improvement but not abrogation of seizure frequency and severity on numerous anti-epileptic agents. His clinical co …
14 results