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Results 1-7 of 7 (Search time: 0.013 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.
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
2011Glucose-dependent insulinotropic peptide receptor overexpression in adrenocortical hyperplasia in MEN1 syndrome without loss of heterozygosity at the 11q13 locusCOSTA, Marcia Helena Soares; DOMENICE, Sorahia; TOLEDO, Rodrigo Almeida; JUNIOR, Delmar Muniz L.; LATRONICO, Ana Claudia; PINTO, Emilia Modolo; TOLEDO, Sergio Pereira Almeida; MENDONCA, Berenice Bilharinho; FRAGOSO, Maria Candida Barisson Villares
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
2011Clinical and molecular aspects of a pediatric metachronous adrenocortical tumorLIMA, Lorena de Oliveira; LERARIO, Antonio Marcondes; ALENCAR, Guilherme Asmar; BRITO, Luciana Pinto; ALMEIDA, Madson Queiroz; DOMENICE, Sorahia; LATRONICO, Ana Claudia; MENDONCA, Berenice Bilharinho; FRAGOSO, Maria Candida Barrison Villares
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