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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;57(1):259-63. Epub 2007 Oct 17.PMID: 17942822 [PubMed - indexed for MEDLINE]Related articlesFree article

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;57(1):255-8. Epub 2007 Oct 17.PMID: 17942821 [PubMed - indexed for MEDLINE]Related articlesFree article

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. Epub 2008 Sep 16.PMID: 18796520 [PubMed - indexed for MEDLINE]Related articlesFree article

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;19(1):122-9.PMID: 16357843 [PubMed - indexed for MEDLINE]Related articlesFree article

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.PMID: 11395395 [PubMed - indexed for MEDLINE]Related articlesFree article

Histopathology of congenital hyperinsulinism: retrospective study with genotype correlations.

Suchi M, MacMullen C, Thornton PS, Ganguly A, Stanley CA, Ruchelli ED.

Pediatr Dev Pathol. 2003 Jul-Aug;6(4):322-33.PMID: 14692646 [PubMed - indexed for MEDLINE]Related articles

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-Aug;15(7):993-1000.PMID: 12199344 [PubMed - indexed for MEDLINE]Related articles

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. Epub 2005 Apr 5.PMID: 15811927 [PubMed - indexed for MEDLINE]Related articlesFree article

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 1;102(7):1286-91.PMID: 9769320 [PubMed - indexed for MEDLINE]Related articlesFree article

Case report: pathological features of aberrant pancreatic development in congenital hyperinsulinism due to ABCC8 mutations.

Brunetti-Pierri N, Olutoye OO, Heptulla R, Tatevian N.

Ann Clin Lab Sci. 2008 Autumn;38(4):386-9.PMID: 18988933 [PubMed - indexed for MEDLINE]Related articles

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;91(10):4118-23. Epub 2006 Aug 1.PMID: 16882742 [PubMed - indexed for MEDLINE]Related articlesFree article

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;89(12):6224-34.PMID: 15579781 [PubMed - indexed for MEDLINE]Related articlesFree article

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;66(6):289-96. Epub 2006 Sep 26. Review.PMID: 17003566 [PubMed - indexed for MEDLINE]Related articles

[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;12(11):1628-35. Epub 2005 Sep 28. Review. French. PMID: 16198094 [PubMed - indexed for MEDLINE]Related articles

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;48(8):1652-7.PMID: 10426386 [PubMed - indexed for MEDLINE]Related articlesFree article

Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies.

Muzyamba M, Farzaneh T, Behe P, Thomas A, Christesen HB, Brusgaard K, Hussain K, Tinker A.

Clin Endocrinol (Oxf). 2007 Jul;67(1):115-24. Epub 2007 Apr 27.PMID: 17466004 [PubMed - indexed for MEDLINE]Related articles

Genotype-phenotype associations in patients with severe hyperinsulinism of infancy.

Greer RM, Shah J, Jeske YW, Brown D, Walker RM, Cowley D, Bowling FG, Liaskou D, Harris M, Thomsett MJ, Choong C, Bell JR, Jack MM, Cotterill AM.

Pediatr Dev Pathol. 2007 Jan-Feb;10(1):25-34.PMID: 17378627 [PubMed - indexed for MEDLINE]Related articles

The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy.

Sandal T, Laborie LB, Brusgaard K, Eide SA, Christesen HB, Søvik O, Njølstad PR, Molven A.

Clin Genet. 2009 May;75(5):440-8.PMID: 19475716 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 10189991 [PubMed - indexed for MEDLINE]Related articles

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;83(1):59-64. Epub 2007 Jan 17.PMID: 17316607 [PubMed - indexed for MEDLINE]Related articles