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Results 1-10 of 22 (Search time: 0.027 seconds).
Issue DateTitleAuthor(s)
2011Increased Transactivation Associated with SOX3 Polyalanine Tract Deletion in a Patient with HypopituitarismALATZOGLOU, Kyriaki S.; KELBERMAN, Daniel; COWELL, Christopher T.; PALMER, Rodger; ARNHOLD, Ivo J. P.; MELO, Maria E.; SCHNABEL, Dirk; GRUETERS, Annette; DATTANI, Mehul T.
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.
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.
2011F-18-FDG-PET/CT Imaging of ACTH-Independent Macronodular Adrenocortical Hyperplasia (AIMAH) Demonstrating Increased F-18-FDG UptakeALENCAR, Guilherme Asmar; FRAGOSO, Maria Candida Barisson Villares; YAMAGA, Lilian Yuri Itaya; LERARIO, Antonio Marcondes; MENDONCA, Berenice Bilharinho
2011Zona fasciculata 21-hydroxysteroids and precursor-to-product ratios in 21-hydroxylase deficiency: Further characterization of classic and non-classic patients and heterozygote carriersCOSTA-BARBOSA, F. A.; CARVALHO, V. M.; NAKAMURA, O. H.; BACHEGA, T. A. S. S.; VIEIRA, J. G. H.; KATER, C. E.
2011The Role of SRY Mutations in the Etiology of Gonadal Dysgenesis in Patients with 45,X/46,XY Disorder of Sex Development and VariantsNISHI, Mirian Yumie; COSTA, Elaine Maria Frade; OLIVEIRA, Suely Beirao; MENDONCA, Berenice Bilharinho; DOMENICE, Sorahia
2011New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT)RODRIGUES, Luiza Souza; CAU, Ana Carolina Arias; BUSSMANN, Luciane Zgoda; BASTIDA, Gabriela; BRUNETTO, Oscar H.; CORREA, Pedro Henrique Silveira; MARTIN, Regina Matsunaga
2011Transitory increase in creatinine levels after parathyroidectomy: evidence of another action of the parathyroid glands?MONTENEGRO, Fabio M.; BRANDAO, Lenine G.; FERREIRA, Gustavo F.; LOURENCO JR., Delmar M.; MARTIN, Regina M.; CUNHA-NETO, Malebranche B.; HELOU, Claudia B.; TOLEDO, Sergio A.; CORDEIRO, Anoi C.; IANHEZ, Luiz E.