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Journal Abstract Search

386 related items for PubMed ID: 11395395

  • 1. 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; 158(6):2177-84. PubMed ID: 11395395
    [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. 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 Oct 01; 59(6):485-91. PubMed ID: 10189991
    [Abstract] [Full Text] [Related]

  • 4. Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism.
    Damaj L, le Lorch M, Verkarre V, Werl C, Hubert L, Nihoul-Fékété C, Aigrain Y, de Keyzer Y, Romana SP, Bellanne-Chantelot C, de Lonlay P, Jaubert F.
    J Clin Endocrinol Metab; 2008 Dec 01; 93(12):4941-7. PubMed ID: 18796520
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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 Oct 01; 66(6):289-96. PubMed ID: 17003566
    [Abstract] [Full Text] [Related]

  • 7. 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 01; 52(3):784-94. PubMed ID: 12606521
    [Abstract] [Full Text] [Related]

  • 8. 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 01; 19(1):122-9. PubMed ID: 16357843
    [Abstract] [Full Text] [Related]

  • 9. 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 01; 79(5):445-7. PubMed ID: 10193261
    [Abstract] [Full Text] [Related]

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

  • 11. An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism.
    Hussain K, Flanagan SE, Smith VV, Ashworth M, Day M, Pierro A, Ellard S.
    Diabetes; 2008 Jan 01; 57(1):259-63. PubMed ID: 17942822
    [Abstract] [Full Text] [Related]

  • 12. 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 Jan 01; 53 Suppl 1():2-6. PubMed ID: 10895035
    [Abstract] [Full Text] [Related]

  • 13. [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 01; 12(11):1628-35. PubMed ID: 16198094
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. 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 01; 83(1):59-64. PubMed ID: 17316607
    [Abstract] [Full Text] [Related]

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  • 17. Congenital hyperinsulinism: molecular basis of a heterogeneous disease.
    Meissner T, Beinbrech B, Mayatepek E.
    Hum Mutat; 1999 Aug 01; 13(5):351-61. PubMed ID: 10338089
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  • 19. Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.
    Tornovsky S, Crane A, Cosgrove KE, Hussain K, Lavie J, Heyman M, Nesher Y, Kuchinski N, Ben-Shushan E, Shatz O, Nahari E, Potikha T, Zangen D, Tenenbaum-Rakover Y, de Vries L, Argente J, Gracia R, Landau H, Eliakim A, Lindley K, Dunne MJ, Aguilar-Bryan L, Glaser B.
    J Clin Endocrinol Metab; 2004 Dec 01; 89(12):6224-34. PubMed ID: 15579781
    [Abstract] [Full Text] [Related]

  • 20. 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 01; 57(1):255-8. PubMed ID: 17942821
    [Abstract] [Full Text] [Related]

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