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306 related items for PubMed ID: 10189991

  • 1. Loss of imprinted genes and paternal SUR1 mutations lead to hyperinsulinism in focal adenomatous hyperplasia.
    Fournet JC, Verkarre V, De Lonlay P, Rahier J, Brunelle F, Robert JJ, Nihoul-Fékété C, Saudubray JM, Junien C.
    Ann Endocrinol (Paris); 1998; 59(6):485-91. PubMed ID: 10189991
    [Abstract] [Full Text] [Related]

  • 2. Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.
    Verkarre V, Fournet JC, de Lonlay P, Gross-Morand MS, Devillers M, Rahier J, Brunelle F, Robert JJ, Nihoul-Fékété C, Saudubray JM, Junien C.
    J Clin Invest; 1998 Oct 01; 102(7):1286-91. PubMed ID: 9769320
    [Abstract] [Full Text] [Related]

  • 3. Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11.
    Fournet JC, Mayaud C, de Lonlay P, Gross-Morand MS, Verkarre V, Castanet M, Devillers M, Rahier J, Brunelle F, Robert JJ, Nihoul-Fékété C, Saudubray JM, Junien C.
    Am J Pathol; 2001 Jun 01; 158(6):2177-84. PubMed ID: 11395395
    [Abstract] [Full Text] [Related]

  • 4. Loss of imprinted genes and paternal SUR1 mutations lead to focal form of congenital hyperinsulinism.
    Fournet JC, Mayaud C, de Lonlay P, Verkarre V, Rahier J, Brunelle F, Robert JJ, Nihoul-Fékété C, Saudubray JM, Junien C.
    Horm Res; 2000 Jun 01; 53 Suppl 1():2-6. PubMed ID: 10895035
    [Abstract] [Full Text] [Related]

  • 5. 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 Jun 01; 15(7):993-1000. PubMed ID: 12199344
    [Abstract] [Full Text] [Related]

  • 6. Hyperinsulinism caused by paternal-specific inheritance of a recessive mutation in the sulfonylurea-receptor gene.
    Glaser B, Ryan F, Donath M, Landau H, Stanley CA, Baker L, Barton DE, Thornton PS.
    Diabetes; 1999 Aug 01; 48(8):1652-7. PubMed ID: 10426386
    [Abstract] [Full Text] [Related]

  • 7. Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy.
    Shyng SL, Ferrigni T, Shepard JB, Nestorowicz A, Glaser B, Permutt MA, Nichols CG.
    Diabetes; 1998 Jul 01; 47(7):1145-51. PubMed ID: 9648840
    [Abstract] [Full Text] [Related]

  • 8. A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland.
    Otonkoski T, Ammälä C, Huopio H, Cote GJ, Chapman J, Cosgrove K, Ashfield R, Huang E, Komulainen J, Ashcroft FM, Dunne MJ, Kere J, Thomas PM.
    Diabetes; 1999 Feb 01; 48(2):408-15. PubMed ID: 10334322
    [Abstract] [Full Text] [Related]

  • 9. Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1.
    Tanizawa Y, Matsuda K, Matsuo M, Ohta Y, Ochi N, Adachi M, Koga M, Mizuno S, Kajita M, Tanaka Y, Tachibana K, Inoue H, Furukawa S, Amachi T, Ueda K, Oka Y.
    Diabetes; 2000 Jan 01; 49(1):114-20. PubMed ID: 10615958
    [Abstract] [Full Text] [Related]

  • 10. Mutations in the sulfonylurea receptor gene in relation to the long-term outcome of persistent hyperinsulinemic hypoglycemia of infancy.
    Taguchi T, Suita S, Ohkubo K, Ono J.
    J Pediatr Surg; 2002 Apr 01; 37(4):593-8. PubMed ID: 11912517
    [Abstract] [Full Text] [Related]

  • 11. Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy.
    Cartier EA, Conti LR, Vandenberg CA, Shyng SL.
    Proc Natl Acad Sci U S A; 2001 Feb 27; 98(5):2882-7. PubMed ID: 11226335
    [Abstract] [Full Text] [Related]

  • 12. Hyperinsulinism: molecular aetiology of focal disease.
    Ryan F, Devaney D, Joyce C, Nestorowicz A, Permutt MA, Glaser B, Barton DE, Thornton PS.
    Arch Dis Child; 1998 Nov 27; 79(5):445-7. PubMed ID: 10193261
    [Abstract] [Full Text] [Related]

  • 13. Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy.
    de Lonlay P, Fournet JC, Rahier J, Gross-Morand MS, Poggi-Travert F, Foussier V, Bonnefont JP, Brusset MC, Brunelle F, Robert JJ, Nihoul-Fékété C, Saudubray JM, Junien C.
    J Clin Invest; 1997 Aug 15; 100(4):802-7. PubMed ID: 9259578
    [Abstract] [Full Text] [Related]

  • 14. Characterization of genes encoding the pancreatic beta-cell ATP-sensitive K+ channel in persistent hyperinsulinemic hypoglycemia of infancy in Japanese patients.
    Someya T, Miki T, Sugihara S, Minagawa M, Yasuda T, Kohno Y, Seino S.
    Endocr J; 2000 Dec 15; 47(6):715-22. PubMed ID: 11228046
    [Abstract] [Full Text] [Related]

  • 15. [Congenital hyperinsulinism in newborn and infant].
    Giurgea I, Ribeiro MJ, Boddaert N, Touati G, Robert JJ, Saudubray JM, Jaubert F, Bellanné-Chantelot C, Brunelle F, Nihoul-Fékété C, de Lonlay P.
    Arch Pediatr; 2005 Nov 15; 12(11):1628-35. PubMed ID: 16198094
    [Abstract] [Full Text] [Related]

  • 16. Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism.
    Suchi M, MacMullen CM, Thornton PS, Adzick NS, Ganguly A, Ruchelli ED, Stanley CA.
    Mod Pathol; 2006 Jan 15; 19(1):122-9. PubMed ID: 16357843
    [Abstract] [Full Text] [Related]

  • 17. The focal form of persistent hyperinsulinemic hypoglycemia of infancy: morphological and molecular studies show structural and functional differences with insulinoma.
    Sempoux C, Guiot Y, Dahan K, Moulin P, Stevens M, Lambot V, de Lonlay P, Fournet JC, Junien C, Jaubert F, Nihoul-Fekete C, Saudubray JM, Rahier J.
    Diabetes; 2003 Mar 15; 52(3):784-94. PubMed ID: 12606521
    [Abstract] [Full Text] [Related]

  • 18. Facial appearance in persistent hyperinsulinemic hypoglycemia.
    de Lonlay P, Cormier-Daire V, Amiel J, Touati G, Goldenberg A, Fournet JC, Brunelle F, Nihoul-Fékété C, Rahier J, Junien C, Robert JJ, Saudubray JM.
    Am J Med Genet; 2002 Aug 01; 111(2):130-3. PubMed ID: 12210338
    [Abstract] [Full Text] [Related]

  • 19. Molecular mechanisms of neonatal hyperinsulinism.
    Giurgea I, Bellanné-Chantelot C, Ribeiro M, Hubert L, Sempoux C, Robert JJ, Blankenstein O, Hussain K, Brunelle F, Nihoul-Fékété C, Rahier J, Jaubert F, de Lonlay P.
    Horm Res; 2006 Aug 01; 66(6):289-96. PubMed ID: 17003566
    [Abstract] [Full Text] [Related]

  • 20. The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism.
    Giurgea I, Sempoux C, Bellanné-Chantelot C, Ribeiro M, Hubert L, Boddaert N, Saudubray JM, Robert JJ, Brunelle F, Rahier J, Jaubert F, Nihoul-Fékété C, de Lonlay P.
    J Clin Endocrinol Metab; 2006 Oct 01; 91(10):4118-23. PubMed ID: 16882742
    [Abstract] [Full Text] [Related]

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