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The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres.
Persani L, Cools M, Ioakim S, Faisal Ahmed S, Andonova S, Avbelj-Stefanija M, Baronio F, Bouligand J, Bruggenwirth HT, Davies JH, De Baere E, Dzivite-Krisane I, Fernandez-Alvarez P, Gheldof A, Giavoli C, Gravholt CH, Hiort O, Holterhus PM, Juul A, Krausz C, Lagerstedt-Robinson K, McGowan R, Neumann U, Novelli A, Peyrassol X, Phylactou LA, Rohayem J, Touraine P, Westra D, Vezzoli V, Rossetti R. Persani L, et al. Among authors: cools m. Endocr Connect. 2022 Nov 14;11(12):e220367. doi: 10.1530/EC-22-0367. Print 2022 Dec 1. Endocr Connect. 2022. PMID: 36228316 Free PMC 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.
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.
Non-coding variation in disorders of sex development.
Baetens D, Mendonça BB, Verdin H, Cools M, De Baere E. Baetens D, et al. Among authors: cools m. Clin Genet. 2017 Feb;91(2):163-172. doi: 10.1111/cge.12911. Clin Genet. 2017. PMID: 27801941 Review.
188 results