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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
47,XXY Klinefelter Syndrome Associated with Partial Androgen Insensitivity Phenotype Conferred by a Complete Inactivating Mutation in the Androgen Receptor Gene
47,XXY Klinefelter Syndrome Associated with Partial Androgen Insensitivity Phenotype Conferred by a Complete Inactivating Mutation in the Androgen Receptor Gene
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47,XXY Klinefelter Syndrome Associated with Partial Androgen Insensitivity Phenotype Conferred by a Complete Inactivating Mutation in the Androgen Receptor Gene

Luciane C. de Carvalho Luciane C. de Carvalho; Alina C. R Feitosa; Andresa de Santi Rodrigues; Mirian Y Nishi; Rosa B Silva; Elaine Maria F Costa; Sorahia Domenice; Berenice B Mendonca; ENDO 2012: The Endocrine Society's 94th Annual Meeting & Expo 94 2012 Houston, Texas

Endocrine Reviews Chevy Chase v. 33, 03_meetingAbstracts, Res. SUN-77, 2012

Chevy Chase 2012

Acesso online. A biblioteca também possui exemplares impressos.

7
47,XXY Klinefelter Syndrome Associated with Partial Androgen Insensitivity Phenotype Conferred by a Complete Inactivating Mutation in the Androgen Receptor Gene
47,XXY Klinefelter Syndrome Associated with Partial Androgen Insensitivity Phenotype Conferred by a Complete Inactivating Mutation in the Androgen Receptor Gene
Material Type:
Artigo 		Adicionar ao Meu Espaço

47,XXY Klinefelter Syndrome Associated with Partial Androgen Insensitivity Phenotype Conferred by a Complete Inactivating Mutation in the Androgen Receptor Gene

Luciane C. de Carvalho Luciane C. de Carvalho; Alina C. R Feitosa; Andresa de Santi Rodrigues; Mirian Y Nishi; Rosa B Silva; Elaine Maria F Costa; Sorahia Domenice; Berenice B Mendonca; ENDO 2012: The Endocrine Society's 94th Annual Meeting & Expo 94 2012 Houston, Texas

Endocrine Reviews Chevy Chase v. 33, 03_meetingAbstracts, Res. SUN-77, 2012

Chevy Chase 2012

Acesso online. A biblioteca também possui exemplares impressos.

8
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
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

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)

9
A novel heterozygous nonsense mutation (p.K248X) in wilms´ tumor gene (WT1) in a 46,XY patient with Denys-Drash syndrome
A novel heterozygous nonsense mutation (p.K248X) in wilms´ tumor gene (WT1) in a 46,XY patient with Denys-Drash syndrome
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A novel heterozygous nonsense mutation (p.K248X) in wilms´ tumor gene (WT1) in a 46,XY patient with Denys-Drash syndrome

Thatiana E. Silva Mariza G Santos; Regina M Martin; Miriam N Nishi; Elaine E. M. F Costa; Berenice B Mendonca; Sorahia Domenice; Annual meeting of the European Society for Pediatric Endocrinology (ESPE) 2010 Prague) (49.

Hormone Research in Paediatrics Basel v. 74, n. suppl. 3, p. 207, res. P2-d2.690, 2010

Basel 2010

Localização: FM - Fac. Medicina    (BCSEP 311 2010 )(Acessar)

10
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
Material Type:
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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.

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Deste Autor:

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

Neste Assunto:

  1. Mutação Genética
  2. Resumos (Eventos)
  3. Transtornos Gonadais
  4. Endocrinologia
  5. Transtornos Da Diferenciação Sexual

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

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