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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. Among authors: dhir v. 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. Among authors: dhir v. 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.
Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
Krone N, Reisch N, Idkowiak J, Dhir V, Ivison HE, Hughes BA, Rose IT, O'Neil DM, Vijzelaar R, Smith MJ, MacDonald F, Cole TR, Adolphs N, Barton JS, Blair EM, Braddock SR, Collins F, Cragun DL, Dattani MT, Day R, Dougan S, Feist M, Gottschalk ME, Gregory JW, Haim M, Harrison R, Olney AH, Hauffa BP, Hindmarsh PC, Hopkin RJ, Jira PE, Kempers M, Kerstens MN, Khalifa MM, Köhler B, Maiter D, Nielsen S, O'Riordan SM, Roth CL, Shane KP, Silink M, Stikkelbroeck NM, Sweeney E, Szarras-Czapnik M, Waterson JR, Williamson L, Hartmann MF, Taylor NF, Wudy SA, Malunowicz EM, Shackleton CH, Arlt W. Krone N, et al. Among authors: dhir v. J Clin Endocrinol Metab. 2012 Feb;97(2):E257-67. doi: 10.1210/jc.2011-0640. Epub 2011 Dec 7. J Clin Endocrinol Metab. 2012. PMID: 22162478 Free PMC article.
Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency.
Reisch N, Idkowiak J, Hughes BA, Ivison HE, Abdul-Rahman OA, Hendon LG, Olney AH, Nielsen S, Harrison R, Blair EM, Dhir V, Krone N, Shackleton CH, Arlt W. Reisch N, et al. Among authors: dhir v. J Clin Endocrinol Metab. 2013 Mar;98(3):E528-36. doi: 10.1210/jc.2012-3449. Epub 2013 Jan 30. J Clin Endocrinol Metab. 2013. PMID: 23365120 Free PMC article.
325 results