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Page 1
Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers.
Stanik J, Gasperikova D, Paskova M, Barak L, Javorkova J, Jancova E, Ciljakova M, Hlava P, Michalek J, Flanagan SE, Pearson E, Hattersley AT, Ellard S, Klimes I. Stanik J, et al. J Clin Endocrinol Metab. 2007 Apr;92(4):1276-82. doi: 10.1210/jc.2006-2490. Epub 2007 Jan 9. J Clin Endocrinol Metab. 2007. PMID: 17213273 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. Diabetes. 2008 Apr;57(4):1034-42. doi: 10.2337/db07-1405. Epub 2007 Dec 27. Diabetes. 2008. PMID: 18162506 Free PMC article.
Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G>C) that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fasting hyperglycemia in humans.
Gasperíková D, Tribble ND, Staník J, Hucková M, Misovicová N, van de Bunt M, Valentínová L, Barrow BA, Barák L, Dobránsky R, Bereczková E, Michálek J, Wicks K, Colclough K, Knight JC, Ellard S, Klimes I, Gloyn AL. Gasperíková D, et al. Among authors: stanik j. Diabetes. 2009 Aug;58(8):1929-35. doi: 10.2337/db09-0070. Epub 2009 May 1. Diabetes. 2009. PMID: 19411616 Free PMC article.
Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism.
Suliman SG, Stanik J, McCulloch LJ, Wilson N, Edghill EL, Misovicova N, Gasperikova D, Sandrikova V, Elliott KS, Barak L, Ellard S, Volpi EV, Klimes I, Gloyn AL. Suliman SG, et al. Among authors: stanik j. Diabetes. 2009 Dec;58(12):2954-61. doi: 10.2337/db09-0787. Epub 2009 Aug 31. Diabetes. 2009. PMID: 19720790 Free PMC article.
[Clinical and genetic aspects of monogenic obesity].
Lesayová D, Staník J, Gasperíková D, Klimes I. Lesayová D, et al. Among authors: stanik j. Vnitr Lek. 2010 Oct;56(10):1043-9. Vnitr Lek. 2010. PMID: 21105449 Review. Slovak.
[Genetics of monogenic forms of diabetes].
Staník J, Hucková M, Staníková D, Masindová I, Valentínová L, Gasperíková D, Klimes I. Staník J, et al. Vnitr Lek. 2011 Nov;57(11):937-45. Vnitr Lek. 2011. PMID: 22165700 Review. Slovak.
65 results