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Issue Date | Title | Author(s) |
---|---|---|
2011 | 46,XY DSD due to 17 beta-HSD3 Deficiency and 5 alpha-Reductase Type 2 Deficiency | INACIO, 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. |
2011 | 46,XY Disorders of Sex Development (46,XY DSD) due to Androgen Receptor Defects: Androgen Insensitivity Syndrome | ARNHOLD, Ivo J. P.; MELO, Karla; COSTA, Elaine M. F.; DANILOVIC, Debora; INACIO, Marlene; DOMENICE, Sorahia; MENDONCA, Berenice B. |
2011 | MAMLD1 (Mastermind-Like Domain Containing 1) Homozygous Gain-of-Function Missense Mutation Causing 46,XX Disorder of Sex Development in a Virilized Female | BRANDAO, Maira Pontual; COSTA, Elaine Maria Frade; FUKAMI, Maki; GERDULO, Mariza; PEREIRA, Natalia P.; DOMENICE, Sorahia; OGATA, Tsutomu; MENDONCA, Berenice B. |
2011 | The Role of SRY Mutations in the Etiology of Gonadal Dysgenesis in Patients with 45,X/46,XY Disorder of Sex Development and Variants | NISHI, Mirian Yumie; COSTA, Elaine Maria Frade; OLIVEIRA, Suely Beirao; MENDONCA, Berenice Bilharinho; DOMENICE, Sorahia |
2011 | Glucose-dependent insulinotropic peptide receptor overexpression in adrenocortical hyperplasia in MEN1 syndrome without loss of heterozygosity at the 11q13 locus | COSTA, 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 |
2011 | A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys-Drash syndrome | SILVA, Thatiana Evilen da; NISHI, Mirian Yumie; COSTA, Elaine Maria Frade; MARTIN, Regina Matsunaga; CARVALHO, Filomena Marino; MENDONCA, Berenice Bilharinho; DOMENICE, Sorahia |
2011 | Clinical and molecular aspects of a pediatric metachronous adrenocortical tumor | LIMA, 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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