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Journal Abstract Search

320 related items for PubMed ID: 17003566

  • 21. Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann syndrome due to defects in the function of pancreatic beta-cell adenosine triphosphate-sensitive potassium channels.
    Hussain K, Cosgrove KE, Shepherd RM, Luharia A, Smith VV, Kassem S, Gregory JW, Sivaprasadarao A, Christesen HT, Jacobsen BB, Brusgaard K, Glaser B, Maher EA, Lindley KJ, Hindmarsh P, Dattani M, Dunne MJ.
    J Clin Endocrinol Metab; 2005 Jul; 90(7):4376-82. PubMed ID: 15811927
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  • 22. KATP channel mutations in congenital hyperinsulinism.
    Saint-Martin C, Arnoux JB, de Lonlay P, Bellanné-Chantelot C.
    Semin Pediatr Surg; 2011 Feb; 20(1):18-22. PubMed ID: 21185999
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  • 23. 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; 93(12):4941-7. PubMed ID: 18796520
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  • 25. Congenital hyperinsulinism in an infant with paternal uniparental disomy on chromosome 11p15: few clinical features suggestive of Beckwith-Wiedemann syndrome.
    Adachi H, Takahashi I, Higashimoto K, Tsuchida S, Noguchi A, Tamura H, Arai H, Ito T, Masue M, Nishibori H, Takahashi T, Soejima H.
    Endocr J; 2013 Dec; 60(4):403-8. PubMed ID: 23197114
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  • 29. Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.
    Pinney SE, MacMullen C, Becker S, Lin YW, Hanna C, Thornton P, Ganguly A, Shyng SL, Stanley CA.
    J Clin Invest; 2008 Aug; 118(8):2877-86. PubMed ID: 18596924
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  • 30. In vitro insulin secretion by pancreatic tissue from infants with diazoxide-resistant congenital hyperinsulinism deviates from model predictions.
    Henquin JC, Nenquin M, Sempoux C, Guiot Y, Bellanné-Chantelot C, Otonkoski T, de Lonlay P, Nihoul-Fékété C, Rahier J.
    J Clin Invest; 2011 Oct; 121(10):3932-42. PubMed ID: 21968111
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  • 31. Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: clinical and functional characterization of two novel ABCC8 mutations.
    Faletra F, Snider K, Shyng SL, Bruno I, Athanasakis E, Gasparini P, Dionisi-Vici C, Ventura A, Zhou Q, Stanley CA, Burlina A.
    Gene; 2013 Mar 01; 516(1):122-5. PubMed ID: 23266803
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  • 34. 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
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  • 36. Three novel pathogenic mutations in KATP channel genes and somatic imprinting alterations of the 11p15 region in pancreatic tissue in patients with congenital hyperinsulinism.
    Lee BH, Lee J, Kim JM, Kang M, Kim GH, Choi JH, Kim J, Kim CJ, Kim DY, Kim SC, Yoo HW.
    Horm Res Paediatr; 2015 Dec 01; 83(3):204-10. PubMed ID: 25765446
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  • 37. Diazoxide-unresponsive congenital hyperinsulinism in children with dominant mutations of the β-cell sulfonylurea receptor SUR1.
    Macmullen CM, Zhou Q, Snider KE, Tewson PH, Becker SA, Aziz AR, Ganguly A, Shyng SL, Stanley CA.
    Diabetes; 2011 Jun 01; 60(6):1797-804. PubMed ID: 21536946
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  • 39. Congenital hyperinsulinism caused by mutations in ABCC8 (SUR1) gene.
    Thakur S, Flanagan SE, Ellard S, Verma IC.
    Indian Pediatr; 2011 Sep 01; 48(9):733-4. PubMed ID: 21992908
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