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PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.
Linglart A, Fryssira H, Hiort O, Holterhus PM, Perez de Nanclares G, Argente J, Heinrichs C, Kuechler A, Mantovani G, Leheup B, Wicart P, Chassot V, Schmidt D, Rubio-Cabezas Ó, Richter-Unruh A, Berrade S, Pereda A, Boros E, Muñoz-Calvo MT, Castori M, Gunes Y, Bertrand G, Bougnères P, Clauser E, Silve C. Linglart A, et al. J Clin Endocrinol Metab. 2012 Dec;97(12):E2328-38. doi: 10.1210/jc.2012-2326. Epub 2012 Oct 5. J Clin Endocrinol Metab. 2012. PMID: 23043190 Clinical Trial.
Oestrogen versus androgen in hormone-replacement therapy for complete androgen insensitivity syndrome: a multicentre, randomised, double-dummy, double-blind crossover trial.
Birnbaum W, Marshall L, Werner R, Kulle A, Holterhus PM, Rall K, Köhler B, Richter-Unruh A, Hartmann MF, Wudy SA, Auer MK, Lux A, Kropf S, Hiort O. Birnbaum W, et al. Lancet Diabetes Endocrinol. 2018 Oct;6(10):771-780. doi: 10.1016/S2213-8587(18)30197-9. Epub 2018 Jul 31. Lancet Diabetes Endocrinol. 2018. PMID: 30075954 Clinical Trial.
Safety Outcomes During Pediatric GH Therapy: Final Results From the Prospective GeNeSIS Observational Program.
Child CJ, Zimmermann AG, Chrousos GP, Cummings E, Deal CL, Hasegawa T, Jia N, Lawrence S, Linglart A, Loche S, Maghnie M, Pérez Sánchez J, Polak M, Predieri B, Richter-Unruh A, Rosenfeld RG, Yeste D, Yorifuji T, Blum WF. Child CJ, et al. J Clin Endocrinol Metab. 2019 Feb 1;104(2):379-389. doi: 10.1210/jc.2018-01189. J Clin Endocrinol Metab. 2019. PMID: 30219920 Free PMC article.
Intrinsic androgen-dependent gene expression patterns revealed by comparison of genital fibroblasts from normal males and individuals with complete and partial androgen insensitivity syndrome.
Holterhus PM, Deppe U, Werner R, Richter-Unruh A, Bebermeier JH, Wünsch L, Krege S, Schweikert HU, Demeter J, Riepe F, Hiort O, Brooks JD. Holterhus PM, et al. BMC Genomics. 2007 Oct 18;8:376. doi: 10.1186/1471-2164-8-376. BMC Genomics. 2007. PMID: 17945006 Free PMC article.
59 results