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Page 1
Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency.
Metherell LA, Naville D, Halaby G, Begeot M, Huebner A, Nürnberg G, Nürnberg P, Green J, Tomlinson JW, Krone NP, Lin L, Racine M, Berney DM, Achermann JC, Arlt W, Clark AJ. Metherell LA, et al. Among authors: krone np. J Clin Endocrinol Metab. 2009 Oct;94(10):3865-71. doi: 10.1210/jc.2009-0467. Epub 2009 Sep 22. J Clin Endocrinol Metab. 2009. PMID: 19773404 Free PMC article.
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.
Parajes S, Loidi L, Reisch N, Dhir V, Rose IT, Hampel R, Quinkler M, Conway GS, Castro-Feijóo L, Araujo-Vilar D, Pombo M, Dominguez F, Williams EL, Cole TR, Kirk JM, Kaminsky E, Rumsby G, Arlt W, Krone N. Parajes S, et al. J Clin Endocrinol Metab. 2010 Feb;95(2):779-88. doi: 10.1210/jc.2009-0651. Epub 2010 Jan 20. J Clin Endocrinol Metab. 2010. PMID: 20089618 Free PMC article.
Concomitant mutations in the P450 oxidoreductase and androgen receptor genes presenting with 46,XY disordered sex development and androgenization at adrenarche.
Idkowiak J, Malunowicz EM, Dhir V, Reisch N, Szarras-Czapnik M, Holmes DM, Shackleton CH, Davies JD, Hughes IA, Krone N, Arlt W. Idkowiak J, et al. J Clin Endocrinol Metab. 2010 Jul;95(7):3418-27. doi: 10.1210/jc.2010-0058. Epub 2010 Apr 21. J Clin Endocrinol Metab. 2010. PMID: 20410220 Free PMC article.
Gas chromatography/mass spectrometry (GC/MS) remains a pre-eminent discovery tool in clinical steroid investigations even in the era of fast liquid chromatography tandem mass spectrometry (LC/MS/MS).
Krone N, Hughes BA, Lavery GG, Stewart PM, Arlt W, Shackleton CH. Krone N, et al. J Steroid Biochem Mol Biol. 2010 Aug;121(3-5):496-504. doi: 10.1016/j.jsbmb.2010.04.010. Epub 2010 Apr 22. J Steroid Biochem Mol Biol. 2010. PMID: 20417277 Free PMC article. Review.
132 results