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Results: 14

1.

Characterization of the ABCC8 gene mutation and phenotype in patients with congenital hyperinsulinism in western Saudi Arabia.

Al-Agha AE, Ahmad IA.

Saudi Med J. 2013 Oct;34(10):1002-6.

PMID:
24145932
[PubMed - indexed for MEDLINE]
2.

Octreotide-induced long QT syndrome in a child with congenital hyperinsulinemia and a novel missense mutation (p.Met115Val) in the ABCC8 gene.

Celik N, Cinaz P, Emeksiz HC, Hussain K, Çamurdan O, Bideci A, Döğer E, Yüce Ö, Türkyılmaz Z, Oğuz AD.

Horm Res Paediatr. 2013;80(4):299-303. doi: 10.1159/000354666. Epub 2013 Sep 27.

PMID:
24080777
[PubMed - indexed for MEDLINE]
3.

Meta-analysis of association of common variants in the KCNJ11-ABCC8 region with type 2 diabetes.

Qin LJ, Lv Y, Huang QY.

Genet Mol Res. 2013 Aug 20;12(3):2990-3002. doi: 10.4238/2013.August.20.1.

PMID:
24065655
[PubMed - indexed for MEDLINE]
Free Article
4.

Association of adiponectin (AdipoQ) and sulphonylurea receptor (ABCC8) gene polymorphisms with Type 2 Diabetes in North Indian population of Punjab.

Matharoo K, Arora P, Bhanwer AJ.

Gene. 2013 Sep 15;527(1):228-34. doi: 10.1016/j.gene.2013.05.075. Epub 2013 Jun 10.

PMID:
23764562
[PubMed - indexed for MEDLINE]
5.

A novel mutation in ABCC8 gene in a newborn with congenital hyperinsulinism -a case report.

Üstün NU, Dilli D, Kundak AA, Okumus N, Erdoğan D, Apaydın S.

Fetal Pediatr Pathol. 2013 Dec;32(6):412-7. doi: 10.3109/15513815.2013.789947. Epub 2013 Apr 22.

PMID:
23607867
[PubMed - indexed for MEDLINE]
6.

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.

PMID:
23563683
[PubMed - indexed for MEDLINE]
7.

A dominant ABCC8-related hyperinsulinism: familial case report. Moreira et al. ABCC8-related hyperinsulinism.

Moreira MC, Piazzon FB, Carvalho MD, Quaio CR, Dutra AB, Ceccon ME, Della-Manna T, Tannuri U, Lee JH, Zerbini MC, Bellanne-Chantelot C, Lonlay P, Bertola DR, Kim CA.

Fetal Pediatr Pathol. 2013 Oct;32(5):384-6. doi: 10.3109/15513815.2012.754531. Epub 2013 Jan 10. No abstract available.

PMID:
23301914
[PubMed - indexed for MEDLINE]
8.

Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.

Flanagan SE, Xie W, Caswell R, Damhuis A, Vianey-Saban C, Akcay T, Darendeliler F, Bas F, Guven A, Siklar Z, Ocal G, Berberoglu M, Murphy N, O'Sullivan M, Green A, Clayton PE, Banerjee I, Clayton PT, Hussain K, Weedon MN, Ellard S.

Am J Hum Genet. 2013 Jan 10;92(1):131-6. doi: 10.1016/j.ajhg.2012.11.017. Epub 2012 Dec 27.

PMID:
23273570
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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.

PMID:
23266803
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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
[PubMed - indexed for MEDLINE]
11.

Incretin effect of glucagon-like peptide 1 receptor agonist is preserved in presence of ABCC8/SUR1 mutation in β-cell.

Bourron O, Chebbi F, Halbron M, Saint-Martin C, Bellanné-Chantelot C, Abed A, Charbit B, Magnan C, Lacorte JM, Hartemann A.

Diabetes Care. 2012 Nov;35(11):e76. doi: 10.2337/dc12-0535. No abstract available.

PMID:
23093687
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

The common C49620T polymorphism in the sulfonylurea receptor gene SUR1 (ABCC8) in patients with gestational diabetes and subsequent glucose metabolism abnormalities.

Molęda P, Bińczak-Kuleta A, Homa K, Safranow K, Celewicz Z, Syrenicz A, Stefański A, Fronczyk A, Majkowska L.

Exp Diabetes Res. 2012;2012:712617. doi: 10.1155/2012/712617. Epub 2012 Aug 15.

PMID:
22927833
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Successful sulfonylurea treatment of a neonate with neonatal diabetes mellitus due to a novel missense mutation, p.P1199L, in the ABCC8 gene.

Oztekin O, Durmaz E, Kalay S, Flanagan SE, Ellard S, Bircan I.

J Perinatol. 2012 Aug;32(8):645-7. doi: 10.1038/jp.2012.46.

PMID:
22842804
[PubMed - indexed for MEDLINE]
14.

ABCC8 polymorphisms are associated with triglyceride concentration in type 2 diabetics on sulfonylurea therapy.

Nikolac N, Simundic AM, Saracevic A, Katalinic D.

Genet Test Mol Biomarkers. 2012 Aug;16(8):924-30. doi: 10.1089/gtmb.2011.0337. Epub 2012 Apr 25.

PMID:
22533711
[PubMed - indexed for MEDLINE]

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