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FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies.
Correa FA, Trarbach EB, Tusset C, Latronico AC, Montenegro LR, Carvalho LR, Franca MM, Otto AP, Costalonga EF, Brito VN, Abreu AP, Nishi MY, Jorge AA, Arnhold IJ, Sidis Y, Pitteloud N, Mendonca BB. Correa FA, et al. Among authors: trarbach eb. Endocr Connect. 2015 Jun;4(2):100-7. doi: 10.1530/EC-15-0015. Epub 2015 Mar 10. Endocr Connect. 2015. PMID: 25759380 Free PMC article.
A GPR54-activating mutation in a patient with central precocious puberty.
Teles MG, Bianco SD, Brito VN, Trarbach EB, Kuohung W, Xu S, Seminara SB, Mendonca BB, Kaiser UB, Latronico AC. Teles MG, et al. Among authors: trarbach eb. N Engl J Med. 2008 Feb 14;358(7):709-15. doi: 10.1056/NEJMoa073443. N Engl J Med. 2008. PMID: 18272894 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
Genetics basis for GnRH-dependent pubertal disorders in humans.
Silveira LF, Trarbach EB, Latronico AC. Silveira LF, et al. Among authors: trarbach eb. Mol Cell Endocrinol. 2010 Aug 5;324(1-2):30-8. doi: 10.1016/j.mce.2010.02.023. Epub 2010 Feb 25. Mol Cell Endocrinol. 2010. PMID: 20188792 Review.
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. 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.
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