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Journal Abstract Search

214 related items for PubMed ID: 17931842

  • 21. Permanent neonatal diabetes caused by a novel mutation.
    Jain V, Flanagan SE, Ellard S.
    Indian Pediatr; 2012 Jun; 49(6):486-8. PubMed ID: 22796691
    [Abstract] [Full Text] [Related]

  • 22. An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes.
    Masia R, Koster JC, Tumini S, Chiarelli F, Colombo C, Nichols CG, Barbetti F.
    Diabetes; 2007 Feb; 56(2):328-36. PubMed ID: 17259376
    [Abstract] [Full Text] [Related]

  • 23. A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.
    Proks P, Arnold AL, Bruining J, Girard C, Flanagan SE, Larkin B, Colclough K, Hattersley AT, Ashcroft FM, Ellard S.
    Hum Mol Genet; 2006 Jun 01; 15(11):1793-800. PubMed ID: 16613899
    [Abstract] [Full Text] [Related]

  • 24. Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.
    Edghill EL, Flanagan SE, Ellard S.
    Rev Endocr Metab Disord; 2010 Sep 01; 11(3):193-8. PubMed ID: 20922570
    [Abstract] [Full Text] [Related]

  • 25. Heterozygous ABCC8 mutations are a cause of MODY.
    Bowman P, Flanagan SE, Edghill EL, Damhuis A, Shepherd MH, Paisey R, Hattersley AT, Ellard S.
    Diabetologia; 2012 Jan 01; 55(1):123-7. PubMed ID: 21989597
    [Abstract] [Full Text] [Related]

  • 26. Successful sulfonylurea treatment of a neonate with neonatal diabetes mellitus due to a novel missense mutation, p.P1199L, in the ABCC8 gene.
    Oztekin O, Durmaz E, Kalay S, Flanagan SE, Ellard S, Bircan I.
    J Perinatol; 2012 Aug 01; 32(8):645-7. PubMed ID: 22842804
    [Abstract] [Full Text] [Related]

  • 27. Permanent diabetes during the first year of life: multiple gene screening in 54 patients.
    Russo L, Iafusco D, Brescianini S, Nocerino V, Bizzarri C, Toni S, Cerutti F, Monciotti C, Pesavento R, Iughetti L, Bernardini L, Bonfanti R, Gargantini L, Vanelli M, Aguilar-Bryan L, Stazi MA, Grasso V, Colombo C, Barbetti F, ISPED Early Diabetes Study Group.
    Diabetologia; 2011 Jul 01; 54(7):1693-701. PubMed ID: 21544516
    [Abstract] [Full Text] [Related]

  • 28. Clinical and genetic features of Argentinian children with diabetes-onset before 12months of age: Successful transfer from insulin to oral sulfonylurea.
    Taberner P, Flanagan SE, Mackay DJ, Ellard S, Taverna MJ, Ferraro M.
    Diabetes Res Clin Pract; 2016 Jul 01; 117():104-10. PubMed ID: 27329029
    [Abstract] [Full Text] [Related]

  • 29. Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.
    Proks P, Antcliff JF, Lippiat J, Gloyn AL, Hattersley AT, Ashcroft FM.
    Proc Natl Acad Sci U S A; 2004 Dec 14; 101(50):17539-44. PubMed ID: 15583126
    [Abstract] [Full Text] [Related]

  • 30. Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy.
    Bonfanti R, Iafusco D, Rabbone I, Diedenhofen G, Bizzarri C, Patera PI, Reinstadler P, Costantino F, Calcaterra V, Iughetti L, Savastio S, Favia A, Cardella F, Lo Presti D, Girtler Y, Rabbiosi S, D'Annunzio G, Zanfardino A, Piscopo A, Casaburo F, Pintomalli L, Russo L, Grasso V, Minuto N, Mucciolo M, Novelli A, Marucci A, Piccini B, Toni S, Silvestri F, Carrera P, Rigamonti A, Frontino G, Trada M, Tinti D, Delvecchio M, Rapini N, Schiaffini R, Mammì C, Barbetti F, Diabetes Study Group of ISPED.
    Eur J Endocrinol; 2021 Apr 14; 184(4):575-585. PubMed ID: 33606663
    [Abstract] [Full Text] [Related]

  • 31. Clinical and molecular characterization of neonatal diabetes and monogenic syndromic diabetes in Asian Indian children.
    Jahnavi S, Poovazhagi V, Mohan V, Bodhini D, Raghupathy P, Amutha A, Suresh Kumar P, Adhikari P, Shriraam M, Kaur T, Das AK, Molnes J, Njolstad PR, Unnikrishnan R, Radha V.
    Clin Genet; 2013 May 14; 83(5):439-45. PubMed ID: 22831748
    [Abstract] [Full Text] [Related]

  • 32. Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy.
    Shield JP, Flanagan SE, Mackay DJ, Harries LW, Proks P, Girard C, Ashcroft FM, Temple IK, Ellard S.
    Diabetes; 2008 Jan 14; 57(1):255-8. PubMed ID: 17942821
    [Abstract] [Full Text] [Related]

  • 33. An in-frame deletion in Kir6.2 (KCNJ11) causing neonatal diabetes reveals a site of interaction between Kir6.2 and SUR1.
    Craig TJ, Shimomura K, Holl RW, Flanagan SE, Ellard S, Ashcroft FM.
    J Clin Endocrinol Metab; 2009 Jul 14; 94(7):2551-7. PubMed ID: 19351728
    [Abstract] [Full Text] [Related]

  • 34. Transient neonatal diabetes with two novel mutations in the KCNJ11 gene and response to sulfonylurea treatment in a preterm infant.
    Siklar Z, Ellard S, Okulu E, Berberoğlu M, Young E, Savaş Erdeve S, Mungan IA, Hacihamdioğlu B, Erdeve O, Arsan S, Oçal G.
    J Pediatr Endocrinol Metab; 2011 Jul 14; 24(11-12):1077-80. PubMed ID: 22308870
    [Abstract] [Full Text] [Related]

  • 35. ABCC8 (SUR1) and KCNJ11 (KIR6.2) mutations in persistent hyperinsulinemic hypoglycemia of infancy and evaluation of different therapeutic measures.
    Darendeliler F, Fournet JC, Baş F, Junien C, Gross MS, Bundak R, Saka N, Günöz H.
    J Pediatr Endocrinol Metab; 2002 Jul 14; 15(7):993-1000. PubMed ID: 12199344
    [Abstract] [Full Text] [Related]

  • 36. 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.
    N Engl J Med; 2006 Aug 03; 355(5):467-77. PubMed ID: 16885550
    [Abstract] [Full Text] [Related]

  • 37. Personalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating ABCC8 mutation.
    Mak CM, Lee CY, Lam CW, Siu WK, Hung VC, Chan AY.
    Diagn Mol Pathol; 2012 Mar 03; 21(1):56-9. PubMed ID: 22306677
    [Abstract] [Full Text] [Related]

  • 38. Neonatal diabetes mellitus: chromosomal analysis in transient and permanent cases.
    Metz C, Cavé H, Bertrand AM, Deffert C, Gueguen-Giroux B, Czernichow P, Polak M, NDM French Study Group. Neonatal diabetes mellitus.
    J Pediatr; 2002 Oct 03; 141(4):483-9. PubMed ID: 12378186
    [Abstract] [Full Text] [Related]

  • 39. Improved long-term glucose control in neonatal diabetes mellitus after early sulfonylurea allergy.
    Shah B, Breidbart E, Pawelczak M, Lam L, Kessler M, Franklin B.
    J Pediatr Endocrinol Metab; 2012 Oct 03; 25(3-4):353-6. PubMed ID: 22768668
    [Abstract] [Full Text] [Related]

  • 40. [From gene to disease; neonatal diabetes mellitus and the KCNJ11 gene].
    Slingerland AS, Bruining GJ.
    Ned Tijdschr Geneeskd; 2005 Dec 03; 149(49):2732-6. PubMed ID: 16375017
    [Abstract] [Full Text] [Related]

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