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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: audi l. PLoS One. 2016 Apr 25;11(4):e0154158. doi: 10.1371/journal.pone.0154158. eCollection 2016. PLoS One. 2016. PMID: 27110943 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: audi l. 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.
Management of Gonads in Adults with Androgen Insensitivity: An International Survey.
Tack LJW, Maris E, Looijenga LHJ, Hannema SE, Audi L, Köhler B, Holterhus PM, Riedl S, Wisniewski A, Flück CE, Davies JH, T'Sjoen G, Lucas-Herald AK, Evliyaoglu O, Krone N, Iotova V, Marginean O, Balsamo A, Verkauskas G, Weintrob N, Ellaithi M, Nordenström A, Verrijn Stuart A, Kluivers KB, Wolffenbuttel KP, Ahmed SF, Cools M. Tack LJW, et al. Among authors: audi l. Horm Res Paediatr. 2018;90(4):236-246. doi: 10.1159/000493645. Epub 2018 Oct 18. Horm Res Paediatr. 2018. PMID: 30336477 Free article. Clinical Trial.
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: audi l. 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.
Addressing gaps in care of people with conditions affecting sex development and maturation.
Hiort O, Cools M, Springer A, McElreavey K, Greenfield A, Wudy SA, Kulle A, Ahmed SF, Dessens A, Balsamo A, Maghnie M, Bonomi M, Dattani M, Persani L, Audi L; COST Actions DSDnet and GnRH Network as well as the European Reference Network for Rare Endocrine Conditions (Endo–ERN). Hiort O, et al. Among authors: audi l. Nat Rev Endocrinol. 2019 Oct;15(10):615-622. doi: 10.1038/s41574-019-0238-y. Epub 2019 Aug 12. Nat Rev Endocrinol. 2019. PMID: 31406344 Free article. Review.
GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’.
Audi L, Ahmed SF, Krone N, Cools M, McElreavey K, Holterhus PM, Greenfield A, Bashamboo A, Hiort O, Wudy SA, McGowan R; The EU COST Action. Audi L, et al. Eur J Endocrinol. 2018 Oct 1;179(4):R197-R206. doi: 10.1530/EJE-18-0256. Eur J Endocrinol. 2018. PMID: 30299888 Free PMC article. Review.
Gonadectomy in conditions affecting sex development: a registry-based cohort study.
Lucas-Herald AK, Bryce J, Kyriakou A, Ljubicic ML, Arlt W, Audi L, Balsamo A, Baronio F, Bertelloni S, Bettendorf M, Brooke A, Claahsen van der Grinten HL, Davies JH, Hermann G, de Vries L, Hughes IA, Tadokoro-Cuccaro R, Darendeliler F, Poyrazoglu S, Ellaithi M, Evliyaoglu O, Fica S, Nedelea L, Gawlik A, Globa E, Zelinska N, Guran T, Güven A, Hannema SE, Hiort O, Holterhus PM, Iotova V, Mladenov V, Jain V, Sharma R, Jennane F, Johnston C, Guerra Junior G, Konrad D, Gaisl O, Krone N, Krone R, Lachlan K, Li D, Lichiardopol C, Lisa L, Markosyan R, Mazen I, Mohnike K, Niedziela M, Nordenstrom A, Rey R, Skaeil M, Tack LJW, Tomlinson J, Weintrob N, Cools M, Ahmed SF. Lucas-Herald AK, et al. Among authors: audi l. Eur J Endocrinol. 2021 May 4;184(6):791-801. doi: 10.1530/EJE-20-1058. Eur J Endocrinol. 2021. PMID: 33780351 Free article.
141 results