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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.
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
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
The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene.
Lucas-Herald A, Bertelloni S, Juul A, Bryce J, Jiang J, Rodie M, Sinnott R, Boroujerdi M, Lindhardt Johansen M, Hiort O, Holterhus PM, Cools M, Guaragna-Filho G, Guerra-Junior G, Weintrob N, Hannema S, Drop S, Guran T, Darendeliler F, Nordenstrom A, Hughes IA, Acerini C, Tadokoro-Cuccaro R, Ahmed SF. Lucas-Herald A, et al. Among authors: cools m. J Clin Endocrinol Metab. 2016 Nov;101(11):3959-3967. doi: 10.1210/jc.2016-1372. Epub 2016 Jul 12. J Clin Endocrinol Metab. 2016. PMID: 27403927 Free PMC article.
Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity.
Hornig NC, Ukat M, Schweikert HU, Hiort O, Werner R, Drop SL, Cools M, Hughes IA, Audi L, Ahmed SF, Demiri J, Rodens P, Worch L, Wehner G, Kulle AE, Dunstheimer D, Müller-Roßberg E, Reinehr T, Hadidi AT, Eckstein AK, van der Horst C, Seif C, Siebert R, Ammerpohl O, Holterhus PM. Hornig NC, et al. Among authors: cools m. J Clin Endocrinol Metab. 2016 Nov;101(11):4468-4477. doi: 10.1210/jc.2016-1990. Epub 2016 Sep 1. J Clin Endocrinol Metab. 2016. PMID: 27583472 Free PMC article.
188 results