Huang N - Search Results

1

Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients.

Sahakitrungruang T, Huang N, Tee MK, Agrawal V, Russell WE, Crock P, Murphy N, Migeon CJ, Miller WL. Sahakitrungruang T, et al. Among authors: huang n. J Clin Endocrinol Metab. 2009 Dec;94(12):4992-5000. doi: 10.1210/jc.2009-1460. Epub 2009 Oct 16. J Clin Endocrinol Metab. 2009. PMID: 19837910 Free PMC article.

2

P450 oxidoreductase deficiency: a new disorder of steroidogenesis affecting all microsomal P450 enzymes.

Pandey AV, Flück CE, Huang N, Tajima T, Fujieda K, Miller WL. Pandey AV, et al. Among authors: huang n. Endocr Res. 2004 Nov;30(4):881-8. doi: 10.1081/erc-200044134. Endocr Res. 2004. PMID: 15666840

3

Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.

Huang N, Pandey AV, Agrawal V, Reardon W, Lapunzina PD, Mowat D, Jabs EW, Van Vliet G, Sack J, Flück CE, Miller WL. Huang N, et al. Am J Hum Genet. 2005 May;76(5):729-49. doi: 10.1086/429417. Epub 2005 Mar 25. Am J Hum Genet. 2005. PMID: 15793702 Free PMC article.

4

P450 oxidoreductase deficiency: a new disorder of steroidogenesis.

Miller WL, Huang N, Pandey AV, Flück CE, Agrawal V. Miller WL, et al. Among authors: huang n. Ann N Y Acad Sci. 2005 Dec;1061:100-8. doi: 10.1196/annals.1336.012. Ann N Y Acad Sci. 2005. PMID: 16467261 Review.

5

Apparent manifesting heterozygosity in P450 oxidoreductase deficiency and its effect on coexisting 21-hydroxylase deficiency.

Scott RR, Gomes LG, Huang N, Van Vliet G, Miller WL. Scott RR, et al. Among authors: huang n. J Clin Endocrinol Metab. 2007 Jun;92(6):2318-22. doi: 10.1210/jc.2006-2345. Epub 2007 Mar 27. J Clin Endocrinol Metab. 2007. PMID: 17389698

6

Vitamin D 1alpha-hydroxylase gene mutations in patients with 1alpha-hydroxylase deficiency.

Kim CJ, Kaplan LE, Perwad F, Huang N, Sharma A, Choi Y, Miller WL, Portale AA. Kim CJ, et al. Among authors: huang n. J Clin Endocrinol Metab. 2007 Aug;92(8):3177-82. doi: 10.1210/jc.2006-2664. Epub 2007 May 8. J Clin Endocrinol Metab. 2007. PMID: 17488797

7

Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc.

Kim CJ, Lin L, Huang N, Quigley CA, AvRuskin TW, Achermann JC, Miller WL. Kim CJ, et al. Among authors: huang n. J Clin Endocrinol Metab. 2008 Mar;93(3):696-702. doi: 10.1210/jc.2007-2330. Epub 2008 Jan 8. J Clin Endocrinol Metab. 2008. PMID: 18182448 Free PMC article.

8

Genetics of P450 oxidoreductase: sequence variation in 842 individuals of four ethnicities and activities of 15 missense mutations.

Huang N, Agrawal V, Giacomini KM, Miller WL. Huang N, et al. Proc Natl Acad Sci U S A. 2008 Feb 5;105(5):1733-8. doi: 10.1073/pnas.0711621105. Epub 2008 Jan 29. Proc Natl Acad Sci U S A. 2008. PMID: 18230729 Free PMC article.

9

The common P450 oxidoreductase variant A503V is not a modifier gene for 21-hydroxylase deficiency.

Gomes LG, Huang N, Agrawal V, Mendonça BB, Bachega TA, Miller WL. Gomes LG, et al. Among authors: huang n. J Clin Endocrinol Metab. 2008 Jul;93(7):2913-6. doi: 10.1210/jc.2008-0304. Epub 2008 Apr 8. J Clin Endocrinol Metab. 2008. PMID: 18397975 Free PMC article.

10

P450 oxidoreductase deficiency - a new form of congenital adrenal hyperplasia.

Flück CE, Pandey AV, Huang N, Agrawal V, Miller WL. Flück CE, et al. Among authors: huang n. Endocr Dev. 2008;13:67-81. doi: 10.1159/000134826. Endocr Dev. 2008. PMID: 18493134 Review.

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