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Issue DateTitleAuthor(s)
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.
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
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
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.
2011Possible role of a radiation-induced p53 mutation in a Nelson's syndrome patient with a fatal outcomePINTO, Emilia Modolo; SIQUEIRA, Sheila A. C.; CUKIER, Priscilla; FRAGOSO, Maria C. B. V.; LIN, Chin Jia; MENDONCA, Berenice Bilharinho de
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