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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. 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.
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.
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. 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.
Gonadal function in adult male patients with congenital adrenal hyperplasia.
Engels M, Gehrmann K, Falhammar H, Webb EA, Nordenström A, Sweep FC, Span PN, van Herwaarden AE, Rohayem J, Richter-Unruh A, Bouvattier C, Köhler B, Kortmann BB, Arlt W, Roeleveld N, Reisch N, Stikkelbroeck NMML, Claahsen-van der Grinten HL; dsd-LIFE group. Engels M, et al. Eur J Endocrinol. 2018 Mar;178(3):285-294. doi: 10.1530/EJE-17-0862. Epub 2018 Jan 16. Eur J Endocrinol. 2018. PMID: 29339528 Free article.
Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis.
Shackleton C, Marcos J, Malunowicz EM, Szarras-Czapnik M, Jira P, Taylor NF, Murphy N, Crushell E, Gottschalk M, Hauffa B, Cragun DL, Hopkin RJ, Adachi M, Arlt W. Shackleton C, et al. Am J Med Genet A. 2004 Jul 30;128A(3):223-31. doi: 10.1002/ajmg.a.30104. Am J Med Genet A. 2004. PMID: 15216541
Multicentre cross-sectional clinical evaluation study about quality of life in adults with disorders/differences of sex development (DSD) compared to country specific reference populations (dsd-LIFE).
Rapp M, Mueller-Godeffroy E, Lee P, Roehle R, Kreukels BPC, Köhler B, Nordenström A, Bouvattier C, Thyen U; dsd-LIFE group. Rapp M, et al. Health Qual Life Outcomes. 2018 Apr 3;16(1):54. doi: 10.1186/s12955-018-0881-3. Health Qual Life Outcomes. 2018. PMID: 29615040 Free PMC article.
Quality of health care in adolescents and adults with disorders/differences of sex development (DSD) in six European countries (dsd-LIFE).
Thyen U, Ittermann T, Flessa S, Muehlan H, Birnbaum W, Rapp M, Marshall L, Szarras-Capnik M, Bouvattier C, Kreukels BPC, Nordenstroem A, Roehle R, Koehler B; dsd-LIFE group. Thyen U, et al. BMC Health Serv Res. 2018 Jul 5;18(1):527. doi: 10.1186/s12913-018-3342-0. BMC Health Serv Res. 2018. PMID: 29976186 Free PMC article.
Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population.
Röhle R, Gehrmann K, Szarras-Czapnik M, Claahsen-van der Grinten H, Pienkowski C, Bouvattier C, Cohen-Kettenis P, Nordenström A, Thyen U, Köhler B; dsd-LIFE group. Röhle R, et al. BMC Endocr Disord. 2017 Aug 18;17(1):52. doi: 10.1186/s12902-017-0198-y. BMC Endocr Disord. 2017. PMID: 28821302 Free PMC article.
44 results