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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: garmes hm. 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
True agonadism: report of a case analyzed with Y-specific DNA probes.
Maciel-Guerra AT, Farah SB, Garmes HM, Pinto Júnior W, Bustorff da Silva JM, Baptista MT, Marques-de-Faria AP, Guerra Júnior G, de Mello MP. Maciel-Guerra AT, et al. Among authors: garmes hm. Am J Med Genet. 1991 Dec 15;41(4):444-5. doi: 10.1002/ajmg.1320410412. Am J Med Genet. 1991. PMID: 1776634
Six new cases confirm the clinical molecular profile of complete combined 17α-hydroxylase/ 17,20-lyase deficiency in Brazil.
Belgini DR, Mello MP, Baptista MT, Oliveira DM, Denardi FC, Garmes HM, Grassiotto Oda R, Benetti Pinto CL, Marques-de-Faria AP, Maciel-Guerra AT, Guerra-Júnior G. Belgini DR, et al. Among authors: garmes hm. Arq Bras Endocrinol Metabol. 2010 Nov;54(8):711-6. doi: 10.1590/s0004-27302010000800008. Arq Bras Endocrinol Metabol. 2010. PMID: 21340157
Long-term follow-up of an 8-year-old boy with insulinoma as the first manifestation of a familial form of multiple endocrine neoplasia type 1.
Fabbri HC, Mello MP, Soardi FC, Esquiaveto-Aun AM, Oliveira DM, Denardi FC, Moura-Neto A, Garmes HM, Baptista MT, Matos PS, Lemos-Marini SH, D'Souza-Li LF, Guerra-Júnior G. Fabbri HC, et al. Among authors: garmes hm. Arq Bras Endocrinol Metabol. 2010 Nov;54(8):754-60. doi: 10.1590/s0004-27302010000800016. Arq Bras Endocrinol Metabol. 2010. PMID: 21340165
Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay.
Beneduzzi D, Trarbach EB, Min L, Jorge AA, Garmes HM, Renk AC, Fichna M, Fichna P, Arantes KA, Costa EM, Zhang A, Adeola O, Wen J, Carroll RS, Mendonça BB, Kaiser UB, Latronico AC, Silveira LF. Beneduzzi D, et al. Among authors: garmes hm. Fertil Steril. 2014 Sep;102(3):838-846.e2. doi: 10.1016/j.fertnstert.2014.05.044. Epub 2014 Jul 10. Fertil Steril. 2014. PMID: 25016926 Free PMC article.
40 results