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Material Type: Artigo
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46,XY disorder of sex development (DSD) due to 17b-hydroxysteroid dehydrogenase type 3 deficiencyBerenice B. Mendonça Nathalia Lisboa Gomes; Sorahia Domenice; Elaine M. F Costa; Marlene Inacio; Regina M Martin; Mirian Y Nishi; Filomena Marino Carvalho; Francisco Denes TiborThe Journal of Steroid Biochemistry and Molecular Biology Oxford v. 165, p. 79-85, 2017Oxford 2017Localização: FM - Fac. Medicina (BCSEP 016/2017 )(Acessar) |
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Material Type: Artigo
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46,XY disorders of sex developement (DSD)Berenice Bilharinho Mendonça Sorahia Domenice; Ivo J. P Arnhold; Elaine M. F CostaClinical endocrinology Oxford v. 70, n.2, p. 173-187, 2009Oxford 2009Localização: FM - Fac. Medicina (FM BCSEP 075 2009 )(Acessar) |
3 |
Material Type: Artigo
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46,XY disorders of sex developement (DSD)Berenice Bilharinho Mendonça Sorahia Domenice; Ivo J. P Arnhold; Elaine M. F CostaClinical endocrinology Oxford v. 70, n.2, p. 173-187, 2009Oxford 2009Localização: FM - Fac. Medicina (FM BCSEP 075 2009 )(Acessar) |
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Material Type: Artigo
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46,XY DSD due to impaired androgen productionBerenice B. Mendonça Elaine M. F Costa; Alicia Belgorosky; Marco Aurelio Rivarola; Sorahia DomeniceBest Practice & Research Clinical Endocrinology & Metabolism Amsterdam v. 24, n.2, p. 243-262, 2010Amsterdam 2010Localização: FM - Fac. Medicina (BCSEP 288 2010 )(Acessar) |
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Material Type: Artigo
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46,XY DSD due to impaired androgen productionBerenice B. Mendonça Elaine M. F Costa; Alicia Belgorosky; Marco Aurelio Rivarola; Sorahia DomeniceBest Practice & Research Clinical Endocrinology & Metabolism Amsterdam v. 24, n.2, p. 243-262, 2010Amsterdam 2010Localização: FM - Fac. Medicina (BCSEP 288 2010 )(Acessar) |
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Material Type: Artigo de Congresso
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A complex submicroscopic chromosomal imbalance in Xp 21,2 with microduplication and one microtriplication containing the DAX1 gene in a patient with 46,XY/47,XY,+markaryotype with partial gonadal dysgenesis and gonadoblastomaElaine M. F. Costa Mirian Y Nishi; Emilia M Pinto; Sorahia Domenice; Berenice B Mendonça; European Society for Paediatric Endocrinology (ESPE) 2008) Turquia (47.Hormone Research Basel v. 70, suppl. 1, p. 69, res. P1-d2-235, 2008Basel 2008Localização: FM - Fac. Medicina (BCSEP 219 2008 )(Acessar) |
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Material Type: Artigo de Congresso
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A novel germline mutation (Y21X) in the PRKAR1A gene in a Brazilian family with Carney complexMarcia H. S. Costa Madson Q Almeida; Sorahia Domenice; Berenice B Mendonça; Maria Candida B. V Fragoso; The Endocrine Society's Annual Meeting (87. 2005 San Diego)Program and Abstracts San Diego, 2005San Diego 2005Localização: FM - Fac. Medicina (BCSEP 353 2005 )(Acessar) |
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Material Type: Artigo de Congresso
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A Novel Mutation in CBX2 Gene in a Brazilian Patient with 46,XY Disorders of Sex Development (DSD) Due to Gonadal DysgenesisC. R. Gomes S Domenice; B. B Mendonça; I. J. P Arnhold; E. M. F Costa; Annual meeting of the Sociedad Latino-Americana de Endocrinología Pediátrica (SLEP) 2010 Costa do Sauípe, Bahia, Brazil) (21.Hormone Research in Paediatrics Basel v. 74, n. suppl. 1, p. 6, res. 17, 2010Basel 2010Acesso online. A biblioteca também possui exemplares impressos. |
9 |
Material Type: Artigo de Congresso
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A novel mutation in the CXORF6 gene in patients with undertermined 46.XY disorders of sex developmentM. P. Brandão S Domenice; I. J. P Arnhold; E. M. F Costa; B. B Mendonça; International Congress of Endocrinology 2008 (13. Rio de Janeiro)Arquivos Brasileiros de Endocrinologia e Metabologia São Paulo v. 52, supl. 6, parte II, p. S794, res. OP-098, 2008São Paulo 2008Localização: FM - Fac. Medicina (BCSEP 382 2008 )(Acessar) |
10 |
Material Type: Artigo
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A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46, XY patient with denys-Drash syndromeThatiana Evilen da Silva Mirian Yumie Nishi; Elaine Maria Frade Costa; Regina Matsunaga Martin; Filomena Marino Carvalho; Berenice Bilharinho Mendonça; Sorahia DomenicePediatric nephrology Berlin v. 26, n. 8, p. 1311-1315, 2011Berlin 2011Localização: FM - Fac. Medicina (BCSEP 073 2011 )(Acessar) |