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Results 1-10 of 11 (Search time: 0.026 seconds).
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.
201146,XY Disorders of Sex Development (46,XY DSD) due to Androgen Receptor Defects: Androgen Insensitivity SyndromeARNHOLD, Ivo J. P.; MELO, Karla; COSTA, Elaine M. F.; DANILOVIC, Debora; INACIO, Marlene; DOMENICE, Sorahia; MENDONCA, Berenice B.
2011MAMLD1 (Mastermind-Like Domain Containing 1) Homozygous Gain-of-Function Missense Mutation Causing 46,XX Disorder of Sex Development in a Virilized FemaleBRANDAO, Maira Pontual; COSTA, Elaine Maria Frade; FUKAMI, Maki; GERDULO, Mariza; PEREIRA, Natalia P.; DOMENICE, Sorahia; OGATA, Tsutomu; 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.
2011Frequency of genetic polymorphisms of PXR gene in the Brazilian populationMOREIRA, Ricardo P. P.; JORGE, Alexander A. L.; MENDONCA, Berenice B.; BACHEGA, Tania A. S. S.
2011Mutational analysis of the necdin gene in patients with congenital isolated hypogonadotropic hypogonadismBENEDUZZI, Daiane; IYER, Anita K.; TRARBACH, Ericka Barbosa; SILVEIRA-NETO, Acacio P.; SILVEIRA, Leticia G.; TUSSET, Cintia; YIP, Kathleen; MENDONCA, Berenice B.; MELLON, Pamela L.; LATRONICO, Ana Claudia
2011PROP1 and CTNNB1 expression in adamantinomatous craniopharyngiomas with or without beta-catenin mutationsCANI, Carolina M. G.; MATUSHITA, Hamilton; CARVALHO, Luciani R. S.; SOARES, Ibere C.; BRITO, Luciana P.; ALMEIDA, Madson Q.; MENDONCA, Berenice B.
2011Absence of GH-Releasing Hormone (GHRH) Mutations in Selected Patients with Isolated GH DeficiencyFRANCA, Marcela M.; JORGE, Alexander A. L.; ALATZOGLOU, Kyriaki S.; CARVALHO, Luciani R. S.; MENDONCA, Berenice B.; AUDI, Laura; CARRASCOSA, Antonio; DATTANI, Mehul T.; ARNHOLD, Ivo J. P.
2011Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and pubertyPUGLIESE-PIRES, Patricia N.; FORTIN, Jean-Philippe; ARTHUR, Thais; LATRONICO, Ana Claudia; MENDONCA, Berenice B.; VILLARES, Sandra Mara F.; PARNHOLD, Ivo J.; KOPIN, Alan S.; JORGE, Alexander A. L.
2011Weight-adjusted neonatal 17OH-progesterone cutoff levels improve the efficiency of newborn screening for congenital adrenal hyperplasiaHAYASHI, Giselle; FAURE, Claudia; BRONDI, Maria Fernanda; VALLEJOS, Carla; SOARES, Daiana; OLIVEIRA, Erica; BRITO, Vinicius N.; MENDONCA, Berenice B.; BACHEGA, Tania A. S. S.