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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: dunne mj. 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
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.
Bitner-Glindzicz M, Lindley KJ, Rutland P, Blaydon D, Smith VV, Milla PJ, Hussain K, Furth-Lavi J, Cosgrove KE, Shepherd RM, Barnes PD, O'Brien RE, Farndon PA, Sowden J, Liu XZ, Scanlan MJ, Malcolm S, Dunne MJ, Aynsley-Green A, Glaser B. Bitner-Glindzicz M, et al. Among authors: dunne mj. Nat Genet. 2000 Sep;26(1):56-60. doi: 10.1038/79178. Nat Genet. 2000. PMID: 10973248
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: dunne mj. 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
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. Among authors: dunne mj. Horm Res. 2004;61(6):270-88. doi: 10.1159/000076933. Epub 2004 Feb 20. Horm Res. 2004. PMID: 14981344 Review.
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: dunne mj. J Clin Endocrinol Metab. 2004 Dec;89(12):6224-34. doi: 10.1210/jc.2004-1233. J Clin Endocrinol Metab. 2004. PMID: 15579781
159 results