Hughes NR - Search Results

1

Growth hormone status following treatment for Cushing's syndrome.

Hughes NR, Lissett CA, Shalet SM. Hughes NR, et al. Clin Endocrinol (Oxf). 1999 Jul;51(1):61-6. doi: 10.1046/j.1365-2265.1999.00738.x. Clin Endocrinol (Oxf). 1999. PMID: 10468966

2

Neonatal diabetes and congenital malabsorptive diarrhea attributable to a novel mutation in the human neurogenin-3 gene coding sequence.

Pinney SE, Oliver-Krasinski J, Ernst L, Hughes N, Patel P, Stoffers DA, Russo P, De León DD. Pinney SE, et al. J Clin Endocrinol Metab. 2011 Jul;96(7):1960-5. doi: 10.1210/jc.2011-0029. Epub 2011 Apr 13. J Clin Endocrinol Metab. 2011. PMID: 21490072 Free PMC article.

3

Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A.

Stanescu DE, Hughes N, Kaplan B, Stanley CA, De León DD. Stanescu DE, et al. J Clin Endocrinol Metab. 2012 Oct;97(10):E2026-30. doi: 10.1210/jc.2012-1356. Epub 2012 Jul 16. J Clin Endocrinol Metab. 2012. PMID: 22802087 Free PMC article.

4

A novel mutation in GATA6 causes pancreatic agenesis.

Stanescu DE, Hughes N, Patel P, De León DD. Stanescu DE, et al. Pediatr Diabetes. 2015 Feb;16(1):67-70. doi: 10.1111/pedi.12111. Epub 2014 Jan 17. Pediatr Diabetes. 2015. PMID: 24433315 Free PMC article.

5

Dominant form of congenital hyperinsulinism maps to HK1 region on 10q.

Pinney SE, Ganapathy K, Bradfield J, Stokes D, Sasson A, Mackiewicz K, Boodhansingh K, Hughes N, Becker S, Givler S, Macmullen C, Monos D, Ganguly A, Hakonarson H, Stanley CA. Pinney SE, et al. Horm Res Paediatr. 2013;80(1):18-27. doi: 10.1159/000351943. Epub 2013 Jul 13. Horm Res Paediatr. 2013. PMID: 23859901 Free PMC article.

6

GATA6 Plays an Important Role in the Induction of Human Definitive Endoderm, Development of the Pancreas, and Functionality of Pancreatic β Cells.

Tiyaboonchai A, Cardenas-Diaz FL, Ying L, Maguire JA, Sim X, Jobaliya C, Gagne AL, Kishore S, Stanescu DE, Hughes N, De Leon DD, French DL, Gadue P. Tiyaboonchai A, et al. Stem Cell Reports. 2017 Mar 14;8(3):589-604. doi: 10.1016/j.stemcr.2016.12.026. Epub 2017 Feb 9. Stem Cell Reports. 2017. PMID: 28196690 Free PMC article.

7

Compound heterozygous mutations in the SUR1 (ABCC 8) subunit of pancreatic K(ATP) channels cause neonatal diabetes by perturbing the coupling between Kir6.2 and SUR1 subunits.

Lin YW, Akrouh A, Hsu Y, Hughes N, Nichols CG, De León DD. Lin YW, et al. Channels (Austin). 2012 Mar-Apr;6(2):133-8. doi: 10.4161/chan.19980. Epub 2012 Mar 1. Channels (Austin). 2012. PMID: 22562119 Free PMC article.

8

Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.

Snider KE, Becker S, Boyajian L, Shyng SL, MacMullen C, Hughes N, Ganapathy K, Bhatti T, Stanley CA, Ganguly A. Snider KE, et al. J Clin Endocrinol Metab. 2013 Feb;98(2):E355-63. doi: 10.1210/jc.2012-2169. Epub 2012 Dec 28. J Clin Endocrinol Metab. 2013. PMID: 23275527 Free PMC article.

9

Hepatocyte nuclear factor 4α gene mutation associated with familial neonatal hyperinsulinism and maturity-onset diabetes of the young.

Pingul MM, Hughes N, Wu A, Stanley CA, Gruppuso PA. Pingul MM, et al. J Pediatr. 2011 May;158(5):852-4. doi: 10.1016/j.jpeds.2011.01.003. Epub 2011 Feb 24. J Pediatr. 2011. PMID: 21353246

10

Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.

Zhou J, Kherani F, Bardakjian TM, Katowitz J, Hughes N, Schimmenti LA, Schneider A, Young TL. Zhou J, et al. Mol Vis. 2008 Mar 24;14:583-92. Mol Vis. 2008. PMID: 18385794 Free PMC article.

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