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Issue DateTitleAuthor(s)
201146,XY DSD due to 17 beta-HSD3 Deficiency and 5 alpha-Reductase Type 2 DeficiencyINACIO, Marlene; SIRCILI, Maria Helena P.; BRITO, Vinicius N.; DOMENICE, Sorahia; OLIVEIRA-JUNIOR, Ari Alves; ARNHOLD, Ivo J. P.; TIBOR, Francisco D.; COSTA, Elaine M. F.; MENDONCA, Berenice B.
2011Pharmacogenetics of glucocorticoid replacement could optimize the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiencyMOREIRA, Ricardo P. P.; JORGE, Alexander A. L.; GOMES, Larissa G.; KAUPERT, Laura C.; MASSUD FILHO, Joao; MENDONCA, Berenice B.; BACHEGA, Tania A. S. S.
2011A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys-Drash syndromeSILVA, Thatiana Evilen da; NISHI, Mirian Yumie; COSTA, Elaine Maria Frade; MARTIN, Regina Matsunaga; CARVALHO, Filomena Marino; MENDONCA, Berenice Bilharinho; DOMENICE, Sorahia
2011Mutations in insulin-like growth factor receptor 1 gene (IGF1R) resulting in intrauterine and postnatal growth retardationLEAL, Andrea de Castro; CANTON, Ana Pinheiro Machado; MONTENEGRO, Luciana Ribeiro; COUTINHO, Debora Cabral; ARNHOLD, Ivo Jorge Prado; JORGE, Alexander Augusto de Lima
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