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Journal Abstract Search

266 related items for PubMed ID: 16609879

  • 1. Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.
    Flanagan SE, Edghill EL, Gloyn AL, Ellard S, Hattersley AT.
    Diabetologia; 2006 Jun; 49(6):1190-7. PubMed ID: 16609879
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  • 2. KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.
    Gloyn AL, Diatloff-Zito C, Edghill EL, Bellanné-Chantelot C, Nivot S, Coutant R, Ellard S, Hattersley AT, Robert JJ.
    Eur J Hum Genet; 2006 Jul; 14(7):824-30. PubMed ID: 16670688
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  • 5. Variable phenotypic spectrum of diabetes mellitus in a family carrying a novel KCNJ11 gene mutation.
    D'Amato E, Tammaro P, Craig TJ, Tosi A, Giorgetti R, Lorini R, Ashcroft FM.
    Diabet Med; 2008 Jun; 25(6):651-6. PubMed ID: 18544102
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  • 6. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
    Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS, Howard N, Srinivasan S, Silva JM, Molnes J, Edghill EL, Frayling TM, Temple IK, Mackay D, Shield JP, Sumnik Z, van Rhijn A, Wales JK, Clark P, Gorman S, Aisenberg J, Ellard S, Njølstad PR, Ashcroft FM, Hattersley AT.
    N Engl J Med; 2004 Apr 29; 350(18):1838-49. PubMed ID: 15115830
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  • 8. Molecular and clinical features of KATP -channel neonatal diabetes mellitus in Japan.
    Hashimoto Y, Dateki S, Hirose M, Satomura K, Sawada H, Mizuno H, Sugihara S, Maruyama K, Urakami T, Sugawara H, Shirai K, Yorifuji T.
    Pediatr Diabetes; 2017 Nov 29; 18(7):532-539. PubMed ID: 27681997
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  • 10. 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 29; 32(6):569-80. PubMed ID: 17296510
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  • 11. Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy.
    Hattersley AT, Ashcroft FM.
    Diabetes; 2005 Sep 29; 54(9):2503-13. PubMed ID: 16123337
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  • 12. Permanent neonatal diabetes mellitus due to KCNJ11 mutation in a Portuguese family: transition from insulin to oral sulfonylureas.
    Dupont J, Pereira C, Medeira A, Duarte R, Ellard S, Sampaio L.
    J Pediatr Endocrinol Metab; 2012 Sep 29; 25(3-4):367-70. PubMed ID: 22768671
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  • 15. Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.
    Sagen JV, Raeder H, Hathout E, Shehadeh N, Gudmundsson K, Baevre H, Abuelo D, Phornphutkul C, Molnes J, Bell GI, Gloyn AL, Hattersley AT, Molven A, Søvik O, Njølstad PR.
    Diabetes; 2004 Oct 29; 53(10):2713-8. PubMed ID: 15448106
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  • 17. Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.
    Shimomura K, Girard CA, Proks P, Nazim J, Lippiat JD, Cerutti F, Lorini R, Ellard S, Hattersley AT, Barbetti F, Ashcroft FM.
    Diabetes; 2006 Jun 29; 55(6):1705-12. PubMed ID: 16731833
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  • 18. Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes.
    Babiker T, Vedovato N, Patel K, Thomas N, Finn R, Männikkö R, Chakera AJ, Flanagan SE, Shepherd MH, Ellard S, Ashcroft FM, Hattersley AT.
    Diabetologia; 2016 Jun 29; 59(6):1162-6. PubMed ID: 27033559
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  • 19. 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.
    J Clin Endocrinol Metab; 2007 Apr 29; 92(4):1276-82. PubMed ID: 17213273
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