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Results: 1 to 20 of 182

Similar articles for PubMed (Select 21968111)

1.

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. doi: 10.1172/JCI58400. Epub 2011 Sep 26.

2.

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. doi: 10.1172/JCI35414.

3.

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
4.

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;60(6):1797-804. doi: 10.2337/db10-1631. Epub 2011 May 2. Erratum in: Diabetes. 2011 Nov;60(11):3097.

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;91(10):4118-23. Epub 2006 Aug 1.

PMID:
16882742
6.

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
7.

Destabilization of ATP-sensitive potassium channel activity by novel KCNJ11 mutations identified in congenital hyperinsulinism.

Lin YW, Bushman JD, Yan FF, Haidar S, MacMullen C, Ganguly A, Stanley CA, Shyng SL.

J Biol Chem. 2008 Apr 4;283(14):9146-56. doi: 10.1074/jbc.M708798200. Epub 2008 Feb 4.

8.

In vitro recovery of ATP-sensitive potassium channels in β-cells from patients with congenital hyperinsulinism of infancy.

Powell PD, Bellanné-Chantelot C, Flanagan SE, Ellard S, Rooman R, Hussain K, Skae M, Clayton P, de Lonlay P, Dunne MJ, Cosgrove KE.

Diabetes. 2011 Apr;60(4):1223-8. doi: 10.2337/db10-1443. Epub 2011 Mar 16.

9.

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
10.

Carriers of an inactivating beta-cell ATP-sensitive K(+) channel mutation have normal glucose tolerance and insulin sensitivity and appropriate insulin secretion.

Huopio H, Vauhkonen I, Komulainen J, Niskanen L, Otonkoski T, Laakso M.

Diabetes Care. 2002 Jan;25(1):101-6.

PMID:
11772909
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.

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 1;516(1):122-5. doi: 10.1016/j.gene.2012.12.055. Epub 2012 Dec 22.

13.

Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests and selective pancreatic arterial calcium stimulation.

Stanley CA, Thornton PS, Ganguly A, MacMullen C, Underwood P, Bhatia P, Steinkrauss L, Wanner L, Kaye R, Ruchelli E, Suchi M, Adzick NS.

J Clin Endocrinol Metab. 2004 Jan;89(1):288-96. Erratum in: J Clin Endocrinol Metab. 2005 Jan;90(1):189.

PMID:
14715863
14.

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.

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;83(1):59-64. Epub 2007 Jan 17.

PMID:
17316607
16.

Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.

Henwood MJ, Kelly A, Macmullen C, Bhatia P, Ganguly A, Thornton PS, Stanley CA.

J Clin Endocrinol Metab. 2005 Feb;90(2):789-94. Epub 2004 Nov 23.

PMID:
15562009
17.

Clinical characteristics of recessive and dominant congenital hyperinsulinism due to mutation(s) in the ABCC8/KCNJ11 genes encoding the ATP-sensitive potasium channel in the pancreatic beta cell.

Oçal G, Flanagan SE, Hacihamdioğlu B, Berberoğlu M, Siklar Z, Ellard S, Savas Erdeve S, Okulu E, Akin IM, Atasay B, Arsan S, Yağmurlu A.

J Pediatr Endocrinol Metab. 2011;24(11-12):1019-23.

PMID:
22308858
18.

[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
19.

The heterogeneity of focal forms of congenital hyperinsulinism.

Ismail D, Kapoor RR, Smith VV, Ashworth M, Blankenstein O, Pierro A, Flanagan SE, Ellard S, Hussain K.

J Clin Endocrinol Metab. 2012 Jan;97(1):E94-9. doi: 10.1210/jc.2011-1628. Epub 2011 Oct 26.

PMID:
22031516
20.

Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia.

Flanagan S, Damhuis A, Banerjee I, Rokicki D, Jefferies C, Kapoor R, Hussain K, Ellard S.

Pediatr Diabetes. 2012 May;13(3):285-9. doi: 10.1111/j.1399-5448.2011.00821.x. Epub 2011 Oct 7.

PMID:
21978130
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