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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: abreu ap. 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.
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. Among authors: abreu ap. 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
Mutations of the KISS1 gene in disorders of puberty.
Silveira LG, Noel SD, Silveira-Neto AP, Abreu AP, Brito VN, Santos MG, Bianco SD, Kuohung W, Xu S, Gryngarten M, Escobar ME, Arnhold IJ, Mendonca BB, Kaiser UB, Latronico AC. Silveira LG, et al. Among authors: abreu ap. J Clin Endocrinol Metab. 2010 May;95(5):2276-80. doi: 10.1210/jc.2009-2421. Epub 2010 Mar 17. J Clin Endocrinol Metab. 2010. PMID: 20237166 Free PMC article.
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: abreu ap. 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.
An ancient founder mutation in PROKR2 impairs human reproduction.
Avbelj Stefanija M, Jeanpierre M, Sykiotis GP, Young J, Quinton R, Abreu AP, Plummer L, Au MG, Balasubramanian R, Dwyer AA, Florez JC, Cheetham T, Pearce SH, Purushothaman R, Schinzel A, Pugeat M, Jacobson-Dickman EE, Ten S, Latronico AC, Gusella JF, Dode C, Crowley WF Jr, Pitteloud N. Avbelj Stefanija M, et al. Among authors: abreu ap. Hum Mol Genet. 2012 Oct 1;21(19):4314-24. doi: 10.1093/hmg/dds264. Epub 2012 Jul 5. Hum Mol Genet. 2012. PMID: 22773735 Free PMC article.
Central precocious puberty caused by mutations in the imprinted gene MKRN3.
Abreu AP, Dauber A, Macedo DB, Noel SD, Brito VN, Gill JC, Cukier P, Thompson IR, Navarro VM, Gagliardi PC, Rodrigues T, Kochi C, Longui CA, Beckers D, de Zegher F, Montenegro LR, Mendonca BB, Carroll RS, Hirschhorn JN, Latronico AC, Kaiser UB. Abreu AP, et al. N Engl J Med. 2013 Jun 27;368(26):2467-75. doi: 10.1056/NEJMoa1302160. Epub 2013 Jun 5. N Engl J Med. 2013. PMID: 23738509 Free PMC article.
73 results