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423 results

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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. Among authors: philipson lh. 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.
Insulin gene mutations as a cause of permanent neonatal diabetes.
Støy J, Edghill EL, Flanagan SE, Ye H, Paz VP, Pluzhnikov A, Below JE, Hayes MG, Cox NJ, Lipkind GM, Lipton RB, Greeley SA, Patch AM, Ellard S, Steiner DF, Hattersley AT, Philipson LH, Bell GI; Neonatal Diabetes International Collaborative Group. Støy J, et al. Among authors: philipson lh. Proc Natl Acad Sci U S A. 2007 Sep 18;104(38):15040-4. doi: 10.1073/pnas.0707291104. Epub 2007 Sep 12. Proc Natl Acad Sci U S A. 2007. PMID: 17855560 Free PMC article.
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.
Edghill EL, Flanagan SE, Patch AM, Boustred C, Parrish A, Shields B, Shepherd MH, Hussain K, Kapoor RR, Malecki M, MacDonald MJ, Støy J, Steiner DF, Philipson LH, Bell GI; Neonatal Diabetes International Collaborative Group; Hattersley AT, Ellard S. Edghill EL, et al. Among authors: philipson lh. Diabetes. 2008 Apr;57(4):1034-42. doi: 10.2337/db07-1405. Epub 2007 Dec 27. Diabetes. 2008. PMID: 18162506 Free PMC article.
Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.
Molven A, Ringdal M, Nordbø AM, Raeder H, Støy J, Lipkind GM, Steiner DF, Philipson LH, Bergmann I, Aarskog D, Undlien DE, Joner G, Søvik O; Norwegian Childhood Diabetes Study Group; Bell GI, Njølstad PR. Molven A, et al. Among authors: philipson lh. Diabetes. 2008 Apr;57(4):1131-5. doi: 10.2337/db07-1467. Epub 2008 Jan 11. Diabetes. 2008. PMID: 18192540
Diagnosis and treatment of neonatal diabetes: a United States experience.
Støy J, Greeley SA, Paz VP, Ye H, Pastore AN, Skowron KB, Lipton RB, Cogen FR, Bell GI, Philipson LH; United States Neonatal Diabetes Working Group. Støy J, et al. Among authors: philipson lh. Pediatr Diabetes. 2008 Oct;9(5):450-9. doi: 10.1111/j.1399-5448.2008.00433.x. Epub 2008 Jul 25. Pediatr Diabetes. 2008. PMID: 18662362 Free PMC article.
A brief perspective on insulin production.
Steiner DF, Park SY, Støy J, Philipson LH, Bell GI. Steiner DF, et al. Among authors: philipson lh. Diabetes Obes Metab. 2009 Nov;11 Suppl 4:189-96. doi: 10.1111/j.1463-1326.2009.01106.x. Diabetes Obes Metab. 2009. PMID: 19817801
Update in neonatal diabetes.
Greeley SA, Tucker SE, Worrell HI, Skowron KB, Bell GI, Philipson LH. Greeley SA, et al. Among authors: philipson lh. Curr Opin Endocrinol Diabetes Obes. 2010 Feb;17(1):13-9. doi: 10.1097/MED.0b013e328334f158. Curr Opin Endocrinol Diabetes Obes. 2010. PMID: 19952737 Review.
Neonatal diabetes mellitus: a model for personalized medicine.
Greeley SA, Tucker SE, Naylor RN, Bell GI, Philipson LH. Greeley SA, et al. Among authors: philipson lh. Trends Endocrinol Metab. 2010 Aug;21(8):464-72. doi: 10.1016/j.tem.2010.03.004. Epub 2010 Apr 29. Trends Endocrinol Metab. 2010. PMID: 20434356 Free PMC article. Review.
423 results