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Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
De Franco E, Saint-Martin C, Brusgaard K, Knight Johnson AE, Aguilar-Bryan L, Bowman P, Arnoux JB, Larsen AR, Sanyoura M, Greeley SAW, Calzada-León R, Harman B, Houghton JAL, Nishimura-Meguro E, Laver TW, Ellard S, Del Gaudio D, Christesen HT, Bellanné-Chantelot C, Flanagan SE. De Franco E, et al. Among authors: brusgaard k. Hum Mutat. 2020 May;41(5):884-905. doi: 10.1002/humu.23995. Epub 2020 Feb 17. Hum Mutat. 2020. PMID: 32027066 Free PMC article. Review.
[Congenital hyperinsulinism].
Christesen HB, Brusgaard K, Jacobsen BB. Christesen HB, et al. Among authors: brusgaard k. Ugeskr Laeger. 2001 Apr 23;163(17):2354-8. Ugeskr Laeger. 2001. PMID: 11347455 Review. Danish.
Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann syndrome due to defects in the function of pancreatic beta-cell adenosine triphosphate-sensitive potassium channels.
Hussain K, Cosgrove KE, Shepherd RM, Luharia A, Smith VV, Kassem S, Gregory JW, Sivaprasadarao A, Christesen HT, Jacobsen BB, Brusgaard K, Glaser B, Maher EA, Lindley KJ, Hindmarsh P, Dattani M, Dunne MJ. Hussain K, et al. Among authors: brusgaard k. J Clin Endocrinol Metab. 2005 Jul;90(7):4376-82. doi: 10.1210/jc.2005-0158. Epub 2005 Apr 5. J Clin Endocrinol Metab. 2005. PMID: 15811927
Rapid genetic analysis in congenital hyperinsulinism.
Christesen HB, Brusgaard K, Alm J, Sjöblad S, Hussain K, Fenger C, Rasmussen L, Hovendal C, Otonkoski T, Jacobsen BB. Christesen HB, et al. Among authors: brusgaard k. Horm Res. 2007;67(4):184-8. doi: 10.1159/000097063. Epub 2006 Nov 15. Horm Res. 2007. PMID: 17114887
Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.
Christesen HB, Tribble ND, Molven A, Siddiqui J, Sandal T, Brusgaard K, Ellard S, Njølstad PR, Alm J, Brock Jacobsen B, Hussain K, Gloyn AL. Christesen HB, et al. Among authors: brusgaard k. Eur J Endocrinol. 2008 Jul;159(1):27-34. doi: 10.1530/EJE-08-0203. Epub 2008 May 1. Eur J Endocrinol. 2008. PMID: 18450771
Vitamin D and diabetes: its importance for beta cell and immune function.
Wolden-Kirk H, Overbergh L, Christesen HT, Brusgaard K, Mathieu C. Wolden-Kirk H, et al. Among authors: brusgaard k. Mol Cell Endocrinol. 2011 Dec 5;347(1-2):106-20. doi: 10.1016/j.mce.2011.08.016. Epub 2011 Aug 26. Mol Cell Endocrinol. 2011. PMID: 21889571 Review.
116 results