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Epigenetic Repression of Androgen Receptor Transcription in Mutation-Negative Androgen Insensitivity Syndrome (AIS Type II).
Hornig NC, Rodens P, Dörr H, Hubner NC, Kulle AE, Schweikert HU, Welzel M, Bens S, Hiort O, Werner R, Gonzalves S, Eckstein AK, Cools M, Verrijn-Stuart A, Stunnenberg HG, Siebert R, Ammerpohl O, Holterhus PM. Hornig NC, et al. Among authors: cools m. J Clin Endocrinol Metab. 2018 Dec 1;103(12):4617-4627. doi: 10.1210/jc.2018-00052. J Clin Endocrinol Metab. 2018. PMID: 30124873
Male gender identity in complete androgen insensitivity syndrome.
T'Sjoen G, De Cuypere G, Monstrey S, Hoebeke P, Freedman FK, Appari M, Holterhus PM, Van Borsel J, Cools M. T'Sjoen G, et al. Among authors: cools m. Arch Sex Behav. 2011 Jun;40(3):635-8. doi: 10.1007/s10508-010-9624-1. Epub 2010 Apr 1. Arch Sex Behav. 2011. PMID: 20358272
Variable loss of functional activities of androgen receptor mutants in patients with androgen insensitivity syndrome.
Elfferich P, van Royen ME, van de Wijngaart DJ, Trapman J, Drop SL, van den Akker EL, Lusher SJ, Bosch R, Bunch T, Hughes IA, Houtsmuller AB, Cools M, Faradz SM, Bisschop PH, Bunck MC, Oostdijk W, Brüggenwirth HT, Brinkmann AO. Elfferich P, et al. Among authors: cools m. Sex Dev. 2013;7(5):223-34. doi: 10.1159/000351820. Epub 2013 Jun 12. Sex Dev. 2013. PMID: 23774508 Free article.
Androgen receptor function links human sexual dimorphism to DNA methylation.
Ammerpohl O, Bens S, Appari M, Werner R, Korn B, Drop SL, Verheijen F, van der Zwan Y, Bunch T, Hughes I, Cools M, Riepe FG, Hiort O, Siebert R, Holterhus PM. Ammerpohl O, et al. Among authors: cools m. PLoS One. 2013 Sep 4;8(9):e73288. doi: 10.1371/journal.pone.0073288. eCollection 2013. PLoS One. 2013. PMID: 24023855 Free PMC article.
Novel associations in disorders of sex development: findings from the I-DSD Registry.
Cox K, Bryce J, Jiang J, Rodie M, Sinnott R, Alkhawari M, Arlt W, Audi L, Balsamo A, Bertelloni S, Cools M, Darendeliler F, Drop S, Ellaithi M, Guran T, Hiort O, Holterhus PM, Hughes I, Krone N, Lisa L, Morel Y, Soder O, Wieacker P, Ahmed SF. Cox K, et al. Among authors: cools m. J Clin Endocrinol Metab. 2014 Feb;99(2):E348-55. doi: 10.1210/jc.2013-2918. Epub 2013 Dec 3. J Clin Endocrinol Metab. 2014. PMID: 24302751 Free PMC article.
Changes over time in sex assignment for disorders of sex development.
Kolesinska Z, Ahmed SF, Niedziela M, Bryce J, Molinska-Glura M, Rodie M, Jiang J, Sinnott RO, Hughes IA, Darendeliler F, Hiort O, van der Zwan Y, Cools M, Guran T, Holterhus PM, Bertelloni S, Lisa L, Arlt W, Krone N, Ellaithi M, Balsamo A, Mazen I, Nordenstrom A, Lachlan K, Alkhawari M, Chatelain P, Weintrob N. Kolesinska Z, et al. Among authors: cools m. Pediatrics. 2014 Sep;134(3):e710-5. doi: 10.1542/peds.2014-1088. Epub 2014 Aug 4. Pediatrics. 2014. PMID: 25092939
A Recurrent Germline Mutation in the 5'UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation.
Hornig NC, de Beaufort C, Denzer F, Cools M, Wabitsch M, Ukat M, Kulle AE, Schweikert HU, Werner R, Hiort O, Audi L, Siebert R, Ammerpohl O, Holterhus PM. Hornig NC, et al. Among authors: cools m. PLoS One. 2016 Apr 25;11(4):e0154158. doi: 10.1371/journal.pone.0154158. eCollection 2016. PLoS One. 2016. PMID: 27110943 Free PMC article.
188 results