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Items: 1 to 20 of 119

1.

Congenital hyperinsulinism: marked clinical heterogeneity in siblings with identical mutations in the ABCC8 gene.

Kapoor RR, Flanagan SE, Ellard S, Hussain K.

Clin Endocrinol (Oxf). 2012 Feb;76(2):312-3. doi: 10.1111/j.1365-2265.2011.04203.x. No abstract available.

PMID:
21851374
2.

Congenital hyperinsulinism caused by mutations in ABCC8 (SUR1) gene.

Thakur S, Flanagan SE, Ellard S, Verma IC.

Indian Pediatr. 2011 Sep;48(9):733-4.

PMID:
21992908
3.

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
4.

Persistent hyperinsulinemic hypoglycemia of infancy.

Yadav D, Dhingra B, Kumar S, Kumar V, Dutta AK.

J Pediatr Endocrinol Metab. 2012;25(5-6):591-3.

PMID:
22876564
5.

Congenital hyperinsulinism due to a compound heterozygous ABCC8 mutation with spontaneous resolution at eight weeks.

Kumaran A, Kapoor RR, Flanagan SE, Ellard S, Hussain K.

Horm Res Paediatr. 2010;73(4):287-92. doi: 10.1159/000284394. Epub 2010 Mar 9.

PMID:
20215776
6.

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.

7.

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.

Kapoor RR, Flanagan SE, Arya VB, Shield JP, Ellard S, Hussain K.

Eur J Endocrinol. 2013 Mar 15;168(4):557-64. doi: 10.1530/EJE-12-0673. Print 2013 Apr.

8.

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
9.

Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia.

Flanagan SE, Kapoor RR, Banerjee I, Hall C, Smith VV, Hussain K, Ellard S.

Clin Genet. 2011 Jun;79(6):582-7. doi: 10.1111/j.1399-0004.2010.01476.x.

10.

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.

11.

Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism.

Calton EA, Temple IK, Mackay DJ, Lever M, Ellard S, Flanagan SE, Davies JH, Hussain K, Gray JC.

Eur J Med Genet. 2013 Feb;56(2):114-7. doi: 10.1016/j.ejmg.2012.12.001. Epub 2012 Dec 20.

PMID:
23261959
12.

Prematurity, macrosomia, hyperinsulinaemic hypoglycaemia and a dominant ABCC8 gene mutation.

Khoriati D, Arya VB, Flanagan SE, Ellard S, Hussain K.

BMJ Case Rep. 2013 Apr 5;2013. pii: bcr2013008767. doi: 10.1136/bcr-2013-008767.

13.

The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism.

Banerjee I, Skae M, Flanagan SE, Rigby L, Patel L, Didi M, Blair J, Ehtisham S, Ellard S, Cosgrove KE, Dunne MJ, Clayton PE.

Eur J Endocrinol. 2011 May;164(5):733-40. doi: 10.1530/EJE-10-1136. Epub 2011 Mar 4.

14.

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.

15.

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.

16.

Relative expression of a dominant mutated ABCC8 allele determines the clinical manifestation of congenital hyperinsulinism.

Shemer R, Avnon Ziv C, Laiba E, Zhou Q, Gay J, Tunovsky-Babaey S, Shyng SL, Glaser B, Zangen DH.

Diabetes. 2012 Jan;61(1):258-63. doi: 10.2337/db11-0984. Epub 2011 Nov 21.

17.

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
18.

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
19.

Novel de novo mutation in sulfonylurea receptor 1 presenting as hyperinsulinism in infancy followed by overt diabetes in early adolescence.

Abdulhadi-Atwan M, Bushman J, Tornovsky-Babaey S, Perry A, Abu-Libdeh A, Glaser B, Shyng SL, Zangen DH.

Diabetes. 2008 Jul;57(7):1935-40. doi: 10.2337/db08-0159. Epub 2008 Apr 4. Erratum in: Diabetes. 2008 Sep;57(9):2552. Bushmann, Jeremy [corrected to Bushman, Jeremy].

20.

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.

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