Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity

Autor: Hornig, N. C., Ukat, M., Schweikert, H. U., Hiort, O., Werner, R., Drop, S. L. S., Cools, Martine, Hughes, I. A., Audi, L., Ahmed, S. F., Demiri, J., Rodens, P., Worch, L., Wehner, G., Kulle, A. E., Dunstheimer, D., Müller-Roßberg, E., Reinehr, T., Hadidi, A. T., Eckstein, A. K., van der Horst, C., Seif, C., Siebert, R., Ammerpohl, O., Holterhus, P.-M.

Publikováno v: The Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, 101(11), 4468-4477. Endocrine Society
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Context: Only approximately 85% of patients with a clinical diagnosis complete androgen insensitivity syndrome and less than 30% with partial androgen insensitivity syndrome can be explained by inactivating mutations in the androgen receptor (AR) gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::f511ef3a4ceb09725e98ed14a20ae78d
http://europepmc.org/articles/PMC5095254

Normalization of Height in Girls with Turner Syndrome after Long-Term Growth Hormone Treatment: Results of a Randomized Dose-Response Trial

Autor: Sas, T. C., de Muinck Keizer-Schrama, S. M., Stijnen, T., Jansen, M., Otten, B. J., Hoorweg-Nijman, J. J., Vulsma, T., Massa, G. G., Rouwe, C. W., Reeser, H. M., Gerver, W. J., Gosen, J. J., Rongen-Westerlaken, C., Drop, S. L.

Publikováno v: Journal of Clinical Endocrinology & Metabolism, 84(12), 4607-4612. Oxford University Press
Journal of Clinical Endocrinology and Metabolism, 84(12), 4607-4612. Endocrine Society
Journal of Clinical Endocrinology and Metabolism, 84, pp. 4607-4612
Journal of Clinical Endocrinology and Metabolism, 84, 4607-4612
Journal of Clinical Endocrinology and Metabolism, 84(12), 4607-4612. ENDOCRINE SOC
Journal of clinical endocrinology and metabolism, 84(12), 4607-4612. The Endocrine Society

Sas TC, de Muinck Keizer-Schrama SM, Stijnen T, Jansen M, Otten BJ, Hoorweg-Nijman JJ, Vulsma T, Massa GG, Rouwe CW, Reeser HM, Gerver WJ, Gosen JJ, Rongen-Westerlaken C, Drop SL.Department of Pediatrics, Sophia Children's Hospital, Rotterdam, The Ne

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfc3255181fd295df5fed3c08e71de32
https://doi.org/10.1210/jc.84.12.4607

Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita

Autor: Nils Krone, Riepe, F. G., Dörr, H. G., Morlot, M., Rudorff, K. H., Drop, S. L., Weigel, J., Pura, M., Kreze, A., Boronat, M., Luca, F., Tiulpakov, A., Partsch, C. J., Peter, M., Sippell, W. G.

Publikováno v: Human Mutation, 25, 502-503. Wiley-Liss Inc.
Scopus-Elsevier

X-linked adrenal hypoplasia congenita (AHC) is a rare developmental disorder associated with primary adrenal insufficiency and combined primary and secondary male hypogonadism. It is caused by deletions or mutations of the NR0B1 (DAX1) gene encoding

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d0636c9d255686e52e4f1bcfcb898114
http://hdl.handle.net/11570/1432459

Psychological assessments before and after treatment of early puberty in adopted children.

Autor: Mul, D, Versluis-den Bieman, H J M, Slijper, F M E, Oostdijk, W, Waelkens, J J J, Drop, S L S, Versluis-den Bieman, H J, Slijper, F M, Waelkens, J J, Drop, S L

Publikováno v: Acta Paediatrica; Sep2001, Vol. 90 Issue 9, p965-971, 7p, 6 Charts

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.