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1
46,XY disorder of sex development (DSD) due to 17b-hydroxysteroid dehydrogenase type 3 deficiency
46,XY disorder of sex development (DSD) due to 17b-hydroxysteroid dehydrogenase type 3 deficiency
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46,XY disorder of sex development (DSD) due to 17b-hydroxysteroid dehydrogenase type 3 deficiency

Berenice B. Mendonça Nathalia Lisboa Gomes; Sorahia Domenice; Elaine M. F Costa; Marlene Inacio; Regina M Martin; Mirian Y Nishi; Filomena Marino Carvalho; Francisco Denes Tibor

The Journal of Steroid Biochemistry and Molecular Biology Oxford v. 165, p. 79-85, 2017

Oxford 2017

Localização: FM - Fac. Medicina    (BCSEP 016/2017 )(Acessar)

2
46,XY disorders of sex developement (DSD)
46,XY disorders of sex developement (DSD)
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46,XY disorders of sex developement (DSD)

Berenice Bilharinho Mendonça Sorahia Domenice; Ivo J. P Arnhold; Elaine M. F Costa

Clinical endocrinology Oxford v. 70, n.2, p. 173-187, 2009

Oxford 2009

Localização: FM - Fac. Medicina    (FM BCSEP 075 2009 )(Acessar)

3
46,XY disorders of sex developement (DSD)
46,XY disorders of sex developement (DSD)
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46,XY disorders of sex developement (DSD)

Berenice Bilharinho Mendonça Sorahia Domenice; Ivo J. P Arnhold; Elaine M. F Costa

Clinical endocrinology Oxford v. 70, n.2, p. 173-187, 2009

Oxford 2009

Localização: FM - Fac. Medicina    (FM BCSEP 075 2009 )(Acessar)

4
46,XY DSD due to impaired androgen production
46,XY DSD due to impaired androgen production
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46,XY DSD due to impaired androgen production

Berenice B. Mendonça Elaine M. F Costa; Alicia Belgorosky; Marco Aurelio Rivarola; Sorahia Domenice

Best Practice & Research Clinical Endocrinology & Metabolism Amsterdam v. 24, n.2, p. 243-262, 2010

Amsterdam 2010

Localização: FM - Fac. Medicina    (BCSEP 288 2010 )(Acessar)

5
46,XY DSD due to impaired androgen production
46,XY DSD due to impaired androgen production
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46,XY DSD due to impaired androgen production

Berenice B. Mendonça Elaine M. F Costa; Alicia Belgorosky; Marco Aurelio Rivarola; Sorahia Domenice

Best Practice & Research Clinical Endocrinology & Metabolism Amsterdam v. 24, n.2, p. 243-262, 2010

Amsterdam 2010

Localização: FM - Fac. Medicina    (BCSEP 288 2010 )(Acessar)

6
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 gonadoblastoma
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 gonadoblastoma
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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 gonadoblastoma

Elaine 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, 2008

Basel 2008

Localização: FM - Fac. Medicina    (BCSEP 219 2008 )(Acessar)

7
A novel germline mutation (Y21X) in the PRKAR1A gene in a Brazilian family with Carney complex
A novel germline mutation (Y21X) in the PRKAR1A gene in a Brazilian family with Carney complex
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A novel germline mutation (Y21X) in the PRKAR1A gene in a Brazilian family with Carney complex

Marcia 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, 2005

San Diego 2005

Localização: FM - Fac. Medicina    (BCSEP 353 2005 )(Acessar)

8
A Novel Mutation in CBX2 Gene in a Brazilian Patient with 46,XY Disorders of Sex Development (DSD) Due to Gonadal Dysgenesis
A Novel Mutation in CBX2 Gene in a Brazilian Patient with 46,XY Disorders of Sex Development (DSD) Due to Gonadal Dysgenesis
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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 Dysgenesis

C. 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, 2010

Basel 2010

Acesso online. A biblioteca também possui exemplares impressos.

9
A novel mutation in the CXORF6 gene in patients with undertermined 46.XY disorders of sex development
A novel mutation in the CXORF6 gene in patients with undertermined 46.XY disorders of sex development
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A novel mutation in the CXORF6 gene in patients with undertermined 46.XY disorders of sex development

M. 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, 2008

São Paulo 2008

Localização: FM - Fac. Medicina    (BCSEP 382 2008 )(Acessar)

10
A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46, XY patient with denys-Drash syndrome
A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46, XY patient with denys-Drash syndrome
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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 syndrome

Thatiana Evilen da Silva Mirian Yumie Nishi; Elaine Maria Frade Costa; Regina Matsunaga Martin; Filomena Marino Carvalho; Berenice Bilharinho Mendonça; Sorahia Domenice

Pediatric nephrology Berlin v. 26, n. 8, p. 1311-1315, 2011

Berlin 2011

Localização: FM - Fac. Medicina    (BCSEP 073 2011 )(Acessar)

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Deste Autor:

  1. Mendonça, B
  2. Domenice, S
  3. Costa, E
  4. Nishi, M
  5. Arnhold, I

Neste Assunto:

  1. Mutação Genética
  2. Transtornos Gonadais
  3. Resumos (Eventos)
  4. Endocrinologia
  5. Genes

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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