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Items: 1 to 20 of 215

1.

ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.

Bellanné-Chantelot C, Saint-Martin C, Ribeiro MJ, Vaury C, Verkarre V, Arnoux JB, Valayannopoulos V, Gobrecht S, Sempoux C, Rahier J, Fournet JC, Jaubert F, Aigrain Y, Nihoul-Fékété C, de Lonlay P.

J Med Genet. 2010 Nov;47(11):752-9. doi: 10.1136/jmg.2009.075416. Epub 2010 Aug 3.

PMID:
20685672
2.

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. doi: 10.1053/j.sempedsurg.2010.10.012. Review.

PMID:
21185999
3.

[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
4.

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
5.

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
6.

Genotypes of the pancreatic beta-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent hyperinsulinaemic hypoglycaemia of infancy.

Ohkubo K, Nagashima M, Naito Y, Taguchi T, Suita S, Okamoto N, Fujinaga H, Tsumura K, Kikuchi K, Ono J.

Clin Endocrinol (Oxf). 2005 Apr;62(4):458-65.

PMID:
15807877
7.

Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).

Fernández-Marmiesse A, Salas A, Vega A, Fernández-Lorenzo JR, Barreiro J, Carracedo A.

Hum Mutat. 2006 Feb;27(2):214.

PMID:
16429405
8.

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
9.

The genetic basis of congenital hyperinsulinism.

James C, Kapoor RR, Ismail D, Hussain K.

J Med Genet. 2009 May;46(5):289-99. doi: 10.1136/jmg.2008.064337. Epub 2009 Mar 1. Review.

PMID:
19254908
10.

Hyperinsulinism in infancy--genetic aspects.

Darendeliler F, Bas F.

Pediatr Endocrinol Rev. 2006 Aug;3 Suppl 3:521-6. Review. Erratum in: Pediatr Endocrinol Rev. 2007 Sep;5(1):470.

PMID:
17551476
11.

Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism.

Park SE, Flanagan SE, Hussain K, Ellard S, Shin CH, Yang SW.

Eur J Endocrinol. 2011 Jun;164(6):919-26. doi: 10.1530/EJE-11-0160. Epub 2011 Mar 21. Erratum in: Eur J Endocrinol. 2011 Sep;165(3):485-6.

12.

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
13.

Congenital hyperinsulinism in Brazilian neonates: a study of histology, KATP channel genes, and proliferation of β cells.

Lovisolo SM, Mendonça BB, Pinto EM, Manna TD, Saldiva PH, Zerbini MC.

Pediatr Dev Pathol. 2010 Sep-Oct;13(5):375-84. doi: 10.2350/08-12-0578.1. Epub 2010 May 19.

PMID:
20482375
14.

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.

15.

A novel mutation associated with congenital hyperinsulinism.

Natarajan G, Aggarwal S, Merritt TA.

Am J Perinatol. 2007 Aug;24(7):401-4. Epub 2007 Jun 27.

PMID:
17597441
16.

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.

17.

Hyperinsulinemic hypoglycemia evolving to gestational diabetes and diabetes mellitus in a family carrying the inactivating ABCC8 E1506K mutation.

Vieira TC, Bergamin CS, Gurgel LC, Moisés RS.

Pediatr Diabetes. 2010 Nov;11(7):505-8. doi: 10.1111/j.1399-5448.2009.00626.x.

PMID:
20042013
19.

Rapid genetic analysis in congenital hyperinsulinism.

Christesen HB, Brusgaard K, Alm J, Sjöblad S, Hussain K, Fenger C, Rasmussen L, Hovendal C, Otonkoski T, Jacobsen BB.

Horm Res. 2007;67(4):184-8. Epub 2006 Nov 15.

PMID:
17114887
20.

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.

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