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Page 1
Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
Idkowiak J, O'Riordan S, Reisch N, Malunowicz EM, Collins F, Kerstens MN, Köhler B, Graul-Neumann LM, Szarras-Czapnik M, Dattani M, Silink M, Shackleton CH, Maiter D, Krone N, Arlt W. Idkowiak J, et al. Among authors: shackleton ch. J Clin Endocrinol Metab. 2011 Mar;96(3):E453-62. doi: 10.1210/jc.2010-1607. Epub 2010 Dec 29. J Clin Endocrinol Metab. 2011. PMID: 21190981 Free PMC article.
Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency.
Lavery GG, Walker EA, Tiganescu A, Ride JP, Shackleton CH, Tomlinson JW, Connell JM, Ray DW, Biason-Lauber A, Malunowicz EM, Arlt W, Stewart PM. Lavery GG, et al. Among authors: shackleton ch. J Clin Endocrinol Metab. 2008 Oct;93(10):3827-32. doi: 10.1210/jc.2008-0743. Epub 2008 Jul 15. J Clin Endocrinol Metab. 2008. PMID: 18628520 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: shackleton ch. 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: shackleton ch. 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: shackleton ch. 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.
Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty.
Idkowiak J, Taylor AE, Subtil S, O'Neil DM, Vijzelaar R, Dias RP, Amin R, Barrett TG, Shackleton CH, Kirk JM, Moss C, Arlt W. Idkowiak J, et al. Among authors: shackleton ch. J Clin Endocrinol Metab. 2016 Jun;101(6):2545-53. doi: 10.1210/jc.2015-4101. Epub 2016 Mar 22. J Clin Endocrinol Metab. 2016. PMID: 27003302 Free PMC article.
276 results