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Variation in enzymes of arylamine procarcinogen biotransformation among bladder cancer patients and control subjects.
Vaziri SA, Hughes NC, Sampson H, Darlington G, Jewett MA, Grant DM. Vaziri SA, et al. Among authors: hughes nc. Pharmacogenetics. 2001 Feb;11(1):7-20. doi: 10.1097/00008571-200102000-00002. Pharmacogenetics. 2001. PMID: 11207033
Variants of N-acetyltransferase NAT1 and a case-control study of colorectal adenomas.
Lin HJ, Probst-Hensch NM, Hughes NC, Sakamoto GT, Louie AD, Kau IH, Lin BK, Lee DB, Lin J, Frankl HD, Lee ER, Hardy S, Grant DM, Haile RW. Lin HJ, et al. Among authors: hughes nc. Pharmacogenetics. 1998 Jun;8(3):269-81. doi: 10.1097/00008571-199806000-00009. Pharmacogenetics. 1998. PMID: 9682272
Human acetyltransferase polymorphisms.
Grant DM, Hughes NC, Janezic SA, Goodfellow GH, Chen HJ, Gaedigk A, Yu VL, Grewal R. Grant DM, et al. Among authors: hughes nc. Mutat Res. 1997 May 12;376(1-2):61-70. doi: 10.1016/s0027-5107(97)00026-2. Mutat Res. 1997. PMID: 9202739
Identification and characterization of variant alleles of human acetyltransferase NAT1 with defective function using p-aminosalicylate as an in-vivo and in-vitro probe.
Hughes NC, Janezic SA, McQueen KL, Jewett MA, Castranio T, Bell DA, Grant DM. Hughes NC, et al. Pharmacogenetics. 1998 Feb;8(1):55-66. doi: 10.1097/00008571-199802000-00008. Pharmacogenetics. 1998. PMID: 9511182
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.
Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters.
Schneider A, Bardakjian TM, Zhou J, Hughes N, Keep R, Dorsainville D, Kherani F, Katowitz J, Schimmenti LA, Hummel M, Fitzpatrick DR, Young TL. Schneider A, et al. Am J Med Genet A. 2008 Nov 1;146A(21):2794-8. doi: 10.1002/ajmg.a.32384. Am J Med Genet A. 2008. PMID: 18831064 Free PMC article.
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.
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.
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.
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.
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