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9. A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain. Shimomura K; Hörster F; de Wet H; Flanagan SE; Ellard S; Hattersley AT; Wolf NI; Ashcroft F; Ebinger F Neurology; 2007 Sep; 69(13):1342-9. PubMed ID: 17652641 [TBL] [Abstract][Full Text] [Related]
10. Identification of two novel frameshift mutations in the KCNJ11 gene in two Italian patients affected by Congenital Hyperinsulinism of Infancy. Biagiotti L; Proverbio MC; Bosio L; Gervasi F; Rovida E; Cerioni V; Bove M; Valin PS; Albarello L; Zamproni I; Grassi S; Doglioni C; Mora S; Chiumello G; Biunno I Exp Mol Pathol; 2007 Aug; 83(1):59-64. PubMed ID: 17316607 [TBL] [Abstract][Full Text] [Related]
11. Diabetes and hypoglycaemia in young children and mutations in the Kir6.2 subunit of the potassium channel: therapeutic consequences. Flechtner I; de Lonlay P; Polak M Diabetes Metab; 2006 Dec; 32(6):569-80. PubMed ID: 17296510 [TBL] [Abstract][Full Text] [Related]
13. Neonatal diabetes mellitus: a disease linked to multiple mechanisms. Polak M; Cavé H Orphanet J Rare Dis; 2007 Mar; 2():12. PubMed ID: 17349054 [TBL] [Abstract][Full Text] [Related]
14. Outpatient transition of an infant with permanent neonatal diabetes due to a KCNJ11 activating mutation from subcutaneous insulin to oral glyburide. Bremer AA; Ranadive S; Lustig RH Pediatr Diabetes; 2008 Jun; 9(3 Pt 1):236-9. PubMed ID: 18221420 [TBL] [Abstract][Full Text] [Related]
15. [Low doses of sulphonyluria as a successful replacement for insulin therapy in a patient with neonatal diabetes due to a mutation of KCNJ11 gene encoding Kir6.2]. Ille J; Putarek NR; Radica A; Hattersley A; Ellard S; Dumić M Lijec Vjesn; 2010; 132(3-4):90-3. PubMed ID: 20540435 [TBL] [Abstract][Full Text] [Related]
16. Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Flanagan SE; Patch AM; Mackay DJ; Edghill EL; Gloyn AL; Robinson D; Shield JP; Temple K; Ellard S; Hattersley AT Diabetes; 2007 Jul; 56(7):1930-7. PubMed ID: 17446535 [TBL] [Abstract][Full Text] [Related]
17. Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period. Patch AM; Flanagan SE; Boustred C; Hattersley AT; Ellard S Diabetes Obes Metab; 2007 Nov; 9 Suppl 2(Suppl 2):28-39. PubMed ID: 17919176 [TBL] [Abstract][Full Text] [Related]
18. Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected]. Busiah K; Drunat S; Vaivre-Douret L; Bonnefond A; Simon A; Flechtner I; Gérard B; Pouvreau N; Elie C; Nimri R; De Vries L; Tubiana-Rufi N; Metz C; Bertrand AM; Nivot-Adamiak S; de Kerdanet M; Stuckens C; Jennane F; Souchon PF; Le Tallec C; Désirée C; Pereira S; Dechaume A; Robert JJ; Phillip M; Scharfmann R; Czernichow P; Froguel P; Vaxillaire M; Polak M; Cavé H; Lancet Diabetes Endocrinol; 2013 Nov; 1(3):199-207. PubMed ID: 24622368 [TBL] [Abstract][Full Text] [Related]
19. Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia. Habeb AM; Al-Magamsi MS; Eid IM; Ali MI; Hattersley AT; Hussain K; Ellard S Pediatr Diabetes; 2012 Sep; 13(6):499-505. PubMed ID: 22060631 [TBL] [Abstract][Full Text] [Related]
20. Molecular basis of neonatal diabetes in Japanese patients. Suzuki S; Makita Y; Mukai T; Matsuo K; Ueda O; Fujieda K J Clin Endocrinol Metab; 2007 Oct; 92(10):3979-85. PubMed ID: 17635943 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]