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TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood.
Gianetti E, Tusset C, Noel SD, Au MG, Dwyer AA, Hughes VA, Abreu AP, Carroll J, Trarbach E, Silveira LF, Costa EM, de Mendonça BB, de Castro M, Lofrano A, Hall JE, Bolu E, Ozata M, Quinton R, Amory JK, Stewart SE, Arlt W, Cole TR, Crowley WF, Kaiser UB, Latronico AC, Seminara SB. Gianetti E, et al. Among authors: trarbach e. J Clin Endocrinol Metab. 2010 Jun;95(6):2857-67. doi: 10.1210/jc.2009-2320. Epub 2010 Mar 23. J Clin Endocrinol Metab. 2010. PMID: 20332248 Free PMC article.
Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification: detection of a hemizygosis for the fibroblast growth factor receptor 1.
Trarbach EB, Teles MG, Costa EM, Abreu AP, Garmes HM, Guerra G Jr, Baptista MT, de Castro M, Mendonca BB, Latronico AC. Trarbach EB, et al. Clin Endocrinol (Oxf). 2010 Mar;72(3):371-6. doi: 10.1111/j.1365-2265.2009.03642.x. Epub 2009 May 29. Clin Endocrinol (Oxf). 2010. PMID: 19489874
A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism.
Teles MG, Trarbach EB, Noel SD, Guerra-Junior G, Jorge A, Beneduzzi D, Bianco SD, Mukherjee A, Baptista MT, Costa EM, De Castro M, Mendonça BB, Kaiser UB, Latronico AC. Teles MG, et al. Among authors: trarbach eb. Eur J Endocrinol. 2010 Jul;163(1):29-34. doi: 10.1530/EJE-10-0012. Epub 2010 Apr 6. Eur J Endocrinol. 2010. PMID: 20371656
51 results