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Page 1
Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.
Tornovsky S, Crane A, Cosgrove KE, Hussain K, Lavie J, Heyman M, Nesher Y, Kuchinski N, Ben-Shushan E, Shatz O, Nahari E, Potikha T, Zangen D, Tenenbaum-Rakover Y, de Vries L, Argente J, Gracia R, Landau H, Eliakim A, Lindley K, Dunne MJ, Aguilar-Bryan L, Glaser B. Tornovsky S, et al. Among authors: lindley k. J Clin Endocrinol Metab. 2004 Dec;89(12):6224-34. doi: 10.1210/jc.2004-1233. J Clin Endocrinol Metab. 2004. PMID: 15579781
BPDZ 154 activates adenosine 5'-triphosphate-sensitive potassium channels: in vitro studies using rodent insulin-secreting cells and islets isolated from patients with hyperinsulinism.
Cosgrove KE, Antoine MH, Lee AT, Barnes PD, de Tullio P, Clayton P, McCloy R, De Lonlay P, Nihoul-Fékété C, Robert JJ, Saudubray JM, Rahier J, Lindley KJ, Hussain K, Aynsley-Green A, Pirotte B, Lebrun P, Dunne MJ. Cosgrove KE, et al. Among authors: lindley kj. J Clin Endocrinol Metab. 2002 Nov;87(11):4860-8. doi: 10.1210/jc.2002-020439. J Clin Endocrinol Metab. 2002. PMID: 12414839
Genetics and pathophysiology of hyperinsulinism in infancy.
Cosgrove KE, Shepherd RM, Fernandez EM, Natarajan A, Lindley KJ, Aynsley-Green A, Dunne MJ. Cosgrove KE, et al. Horm Res. 2004;61(6):270-88. doi: 10.1159/000076933. Epub 2004 Feb 20. Horm Res. 2004. PMID: 14981344 Review.
Infantile hyperinsulinism associated with enteropathy, deafness and renal tubulopathy: clinical manifestations of a syndrome caused by a contiguous gene deletion located on chromosome 11p.
Hussain K, Bitner-Glindzicz M, Blaydon D, Lindley KJ, Thompson DA, Kriss T, Rajput K, Ramadan DG, Al-Mazidi Z, Cosgrove KE, Dunne MJ, Aynsley-Green A. Hussain K, et al. Among authors: lindley kj. J Pediatr Endocrinol Metab. 2004 Dec;17(12):1613-21. doi: 10.1515/jpem.2004.17.12.1613. J Pediatr Endocrinol Metab. 2004. PMID: 15645695
Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency.
Jackson RS, Creemers JW, Farooqi IS, Raffin-Sanson ML, Varro A, Dockray GJ, Holst JJ, Brubaker PL, Corvol P, Polonsky KS, Ostrega D, Becker KL, Bertagna X, Hutton JC, White A, Dattani MT, Hussain K, Middleton SJ, Nicole TM, Milla PJ, Lindley KJ, O'Rahilly S. Jackson RS, et al. Among authors: lindley kj. J Clin Invest. 2003 Nov;112(10):1550-60. doi: 10.1172/JCI18784. J Clin Invest. 2003. PMID: 14617756 Free PMC article.
Inflammatory skin and bowel disease linked to ADAM17 deletion.
Blaydon DC, Biancheri P, Di WL, Plagnol V, Cabral RM, Brooke MA, van Heel DA, Ruschendorf F, Toynbee M, Walne A, O'Toole EA, Martin JE, Lindley K, Vulliamy T, Abrams DJ, MacDonald TT, Harper JI, Kelsell DP. Blaydon DC, et al. Among authors: lindley k. N Engl J Med. 2011 Oct 20;365(16):1502-8. doi: 10.1056/NEJMoa1100721. N Engl J Med. 2011. PMID: 22010916 Free article.
241 results