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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. Among authors: klimes i. 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.
Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study.
Bowman P, Sulen Å, Barbetti F, Beltrand J, Svalastoga P, Codner E, Tessmann EH, Juliusson PB, Skrivarhaug T, Pearson ER, Flanagan SE, Babiker T, Thomas NJ, Shepherd MH, Ellard S, Klimes I, Szopa M, Polak M, Iafusco D, Hattersley AT, Njølstad PR; Neonatal Diabetes International Collaborative Group. Bowman P, et al. Among authors: klimes i. Lancet Diabetes Endocrinol. 2018 Aug;6(8):637-646. doi: 10.1016/S2213-8587(18)30106-2. Epub 2018 Jun 4. Lancet Diabetes Endocrinol. 2018. PMID: 29880308 Free PMC article.
Coincidence of a novel KCNJ11 missense variant R365H with a paternally inherited 6q24 duplication in a patient with transient neonatal diabetes.
Staník J, Lethby M, Flanagan SE, Gasperíková D, Milosovicová B, Lever M, Bullman H, Zubcevic L, Hattersley AT, Ellard S, Ashcroft FM, Klimes I. Staník J, et al. Among authors: klimes i. Diabetes Care. 2008 Sep;31(9):1736-7. doi: 10.2337/dc08-0549. Epub 2008 Jun 12. Diabetes Care. 2008. PMID: 18556340 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: klimes i. Diabetes. 2009 Aug;58(8):1929-35. doi: 10.2337/db09-0070. Epub 2009 May 1. Diabetes. 2009. PMID: 19411616 Free PMC article.
Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families.
Rubio-Cabezas O, Patch AM, Minton JA, Flanagan SE, Edghill EL, Hussain K, Balafrej A, Deeb A, Buchanan CR, Jefferson IG, Mutair A; Neonatal Diabetes International Collaborative Group; Hattersley AT, Ellard S. Rubio-Cabezas O, et al. J Clin Endocrinol Metab. 2009 Nov;94(11):4162-70. doi: 10.1210/jc.2009-1137. Epub 2009 Oct 16. J Clin Endocrinol Metab. 2009. PMID: 19837917 Free PMC article.
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.
Pearson ER, Flechtner I, Njølstad PR, Malecki MT, Flanagan SE, Larkin B, Ashcroft FM, Klimes I, Codner E, Iotova V, Slingerland AS, Shield J, Robert JJ, Holst JJ, Clark PM, Ellard S, Søvik O, Polak M, Hattersley AT; Neonatal Diabetes International Collaborative Group. Pearson ER, et al. Among authors: klimes i. N Engl J Med. 2006 Aug 3;355(5):467-77. doi: 10.1056/NEJMoa061759. N Engl J Med. 2006. PMID: 16885550 Free article.
[Genetics of monogenic forms of diabetes].
Staník J, Hucková M, Staníková D, Masindová I, Valentínová L, Gasperíková D, Klimes I. Staník J, et al. Among authors: klimes i. Vnitr Lek. 2011 Nov;57(11):937-45. Vnitr Lek. 2011. PMID: 22165700 Review. Slovak.
200 results