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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: baptista mt. Am J Med Genet. 1991 Dec 15;41(4):444-5. doi: 10.1002/ajmg.1320410412. Am J Med Genet. 1991. PMID: 1776634
Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes.
Assumpção JG, Benedetti CE, Maciel-Guerra AT, Guerra G Jr, Baptista MT, Scolfaro MR, de Mello MP. Assumpção JG, et al. Among authors: baptista mt. J Mol Med (Berl). 2002 Dec;80(12):782-90. doi: 10.1007/s00109-002-0376-9. Epub 2002 Oct 1. J Mol Med (Berl). 2002. PMID: 12483463
Congenital perineal lipoma presenting as ambiguous genitalia.
Guerra-Junior G, Aun AM, Miranda ML, Beraldo LP, Guimaraes Moraes S, Baptista MT, Marques-de-Faria AP, Maciel-Guerra AT. Guerra-Junior G, et al. Among authors: baptista mt. Eur J Pediatr Surg. 2008 Aug;18(4):269-71. doi: 10.1055/s-2008-1038366. Epub 2008 Aug 14. Eur J Pediatr Surg. 2008. PMID: 18704895
Inhibin alpha-subunit (INHA) gene and locus changes in paediatric adrenocortical tumours from TP53 R337H mutation heterozygote carriers.
Longui CA, Lemos-Marini SH, Figueiredo B, Mendonca BB, Castro M, Liberatore R Jr, Watanabe C, Lancellotti CL, Rocha MN, Melo MB, Monte O, Calliari LE, Guerra-Junior G, Baptista MT, Sbragia-Neto L, Latronico AC, Moreira A, Tardelli AM, Nigri A, Taymans SE, Stratakis CA. Longui CA, et al. Among authors: baptista mt. J Med Genet. 2004 May;41(5):354-9. doi: 10.1136/jmg.2004.018978. J Med Genet. 2004. PMID: 15121773 Free PMC article.
44 results