Similar articles for PMID: 8923011

Year	Number of Results
1993	1
1994	1
1995	2
1996	6
1997	4
1998	15
1999	8
2000	7
2001	7
2002	4
2003	3
2004	3
2005	5
2006	7
2007	6
2008	1
2009	1
2010	1
2011	4
2012	1
2013	1
2020	1
2021	1
2022	1
2024	0

1

Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.

Nestorowicz A, Wilson BA, Schoor KP, Inoue H, Glaser B, Landau H, Stanley CA, Thornton PS, Clement JP 4th, Bryan J, Aguilar-Bryan L, Permutt MA. Nestorowicz A, et al. Hum Mol Genet. 1996 Nov;5(11):1813-22. doi: 10.1093/hmg/5.11.1813. Hum Mol Genet. 1996. PMID: 8923011

2

Genome-edited zebrafish model of ABCC8 loss-of-function disease.

Ikle JM, Tryon RC, Singareddy SS, York NW, Remedi MS, Nichols CG. Ikle JM, et al. Islets. 2022 Dec 31;14(1):200-209. doi: 10.1080/19382014.2022.2149206. Islets. 2022. PMID: 36458573 Free PMC article.

3

A founder mutation in FLNC is likely a major cause of idiopathic dilated cardiomyopathy in Ashkenazi Jews.

Liebman SW, Palaganas H, Kobany H. Liebman SW, et al. Int J Cardiol. 2021 Jan 15;323:124. doi: 10.1016/j.ijcard.2020.08.052. Epub 2020 Aug 15. Int J Cardiol. 2021. PMID: 32805325 No abstract available.

4

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. Flanagan SE, et al. Am J Hum Genet. 2013 Jan 10;92(1):131-6. doi: 10.1016/j.ajhg.2012.11.017. Epub 2012 Dec 27. Am J Hum Genet. 2013. PMID: 23273570 Free PMC article.

5

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

Thakur S, Flanagan SE, Ellard S, Verma IC. Thakur S, et al. Indian Pediatr. 2011 Sep;48(9):733-4. Indian Pediatr. 2011. PMID: 21992908

6

ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia.

Glaser B, Blech I, Krakinovsky Y, Ekstein J, Gillis D, Mazor-Aronovitch K, Landau H, Abeliovich D. Glaser B, et al. Genet Med. 2011 Oct;13(10):891-4. doi: 10.1097/GIM.0b013e31821fea33. Genet Med. 2011. PMID: 21716120 Free article.

7

A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations.

Gallione CJ, Solatycki A, Awad IA, Weber JL, Marchuk DA. Gallione CJ, et al. Genet Med. 2011 Jul;13(7):662-6. doi: 10.1097/GIM.0b013e318211ff8b. Genet Med. 2011. PMID: 21543988 Free PMC article.

8

Congenital hyperinsulinism and glucose hypersensitivity in homozygous and heterozygous carriers of Kir6.2 (KCNJ11) mutation V290M mutation: K(ATP) channel inactivation mechanism and clinical management.

Loechner KJ, Akrouh A, Kurata HT, Dionisi-Vici C, Maiorana A, Pizzoferro M, Rufini V, de Ville de Goyet J, Colombo C, Barbetti F, Koster JC, Nichols CG. Loechner KJ, et al. Diabetes. 2011 Jan;60(1):209-17. doi: 10.2337/db10-0731. Epub 2010 Oct 27. Diabetes. 2011. PMID: 20980454 Free PMC article.

9

The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence.

Lehtokari VL, Greenleaf RS, DeChene ET, Kellinsalmi M, Pelin K, Laing NG, Beggs AH, Wallgren-Pettersson C. Lehtokari VL, et al. Neuromuscul Disord. 2009 Mar;19(3):179-81. doi: 10.1016/j.nmd.2008.12.001. Epub 2009 Feb 15. Neuromuscul Disord. 2009. PMID: 19232495 Free PMC article.

10

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. Hussain K, et al. Diabetes. 2008 Jan;57(1):259-63. doi: 10.2337/db07-0998. Epub 2007 Oct 17. Diabetes. 2008. PMID: 17942822

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