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1
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:
Artigo de Congresso 		Adicionar ao Meu Espaço

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.

2
Analysis of Sox9 gene expression regulatory region in 46,XY DSD patients without campomelic dysplasia
Analysis of Sox9 gene expression regulatory region in 46,XY DSD patients without campomelic dysplasia
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Analysis of Sox9 gene expression regulatory region in 46,XY DSD patients without campomelic dysplasia

Marina Fanelli Rosana B. Silva Silva; Sorahia Domenice; Berenice Bilharinho de Mendonça; Elaine M. F Costa; European Society for Paediatric Endocrinology (ESPE)/ Joint Meeting (9. 2013 Milan, Italy)

Hormone Research in Paediatrics Basel v. 80, suppl. 1, p. 185, res. P1-d2-583, 2013

Basel 2013

Localização: FM - Fac. Medicina    (BCSEP 418 2013 )(Acessar)

3
TAC3/TACR3 Mutations Reveal Preferential Activation of Gonadotropin-Releasing Hormone Release by Neurokinin B in Neonatal Life Followed by Reversal in Adulthood
TAC3/TACR3 Mutations Reveal Preferential Activation of Gonadotropin-Releasing Hormone Release by Neurokinin B in Neonatal Life Followed by Reversal in Adulthood
Material Type:
Artigo 		Adicionar ao Meu Espaço

TAC3/TACR3 Mutations Reveal Preferential Activation of Gonadotropin-Releasing Hormone Release by Neurokinin B in Neonatal Life Followed by Reversal in Adulthood

Elena Gianetti Cintia Tusset; Sekoni D Noel; Margaret G Au; Andrew A Dwyer; Virginia A Hughes; Ana Paula Abreu; Jessica Carroll; Ericka Trarbach; Leticia F. G Silveira; Elaine M. F Costa; Berenice Bilharinho de Mendonça; Margaret de Castro; Adriana Lofrano; Janet E Hall; Erol Bolu; Metin Ozata; Richard Quinton; John K Amory; Susan E Stewart; Wiebke Arlt; Trevor R Cole; William F Crowley; Ursula B Kaiser; Ana Claudia Latronico; Stephanie B Seminara

Journal of Clinical Endocrinology and Metabolism Philadelphia v. 95, n. 5, p. 2857-2867, 2010

Philadelphia 2010

Acesso online. A biblioteca também possui exemplares impressos.

4
TAC3/TACR3 Mutations Reveal Preferential Activation of Gonadotropin-Releasing Hormone Release by Neurokinin B in Neonatal Life Followed by Reversal in Adulthood
TAC3/TACR3 Mutations Reveal Preferential Activation of Gonadotropin-Releasing Hormone Release by Neurokinin B in Neonatal Life Followed by Reversal in Adulthood
Material Type:
Artigo 		Adicionar ao Meu Espaço

TAC3/TACR3 Mutations Reveal Preferential Activation of Gonadotropin-Releasing Hormone Release by Neurokinin B in Neonatal Life Followed by Reversal in Adulthood

Elena Gianetti Cintia Tusset; Sekoni D Noel; Margaret G Au; Andrew A Dwyer; Virginia A Hughes; Ana Paula Abreu; Jessica Carroll; Ericka Trarbach; Leticia F. G Silveira; Elaine M. F Costa; Berenice Bilharinho de Mendonça; Margaret de Castro; Adriana Lofrano; Janet E Hall; Erol Bolu; Metin Ozata; Richard Quinton; John K Amory; Susan E Stewart; Wiebke Arlt; Trevor R Cole; William F Crowley; Ursula B Kaiser; Ana Claudia Latronico; Stephanie B Seminara

Journal of Clinical Endocrinology and Metabolism Philadelphia v. 95, n. 5, p. 2857-2867, 2010

Philadelphia 2010

Acesso online. A biblioteca também possui exemplares impressos.

5
Tall stature and poor breast development after estrogen replacement in a hypergonoadotrophic hypogonadic patient with a 45,X/46,X,der (X) karyotype with SHOX gene overdosage
Tall stature and poor breast development after estrogen replacement in a hypergonoadotrophic hypogonadic patient with a 45,X/46,X,der (X) karyotype with SHOX gene overdosage
Material Type:
Artigo 		Adicionar ao Meu Espaço

Tall stature and poor breast development after estrogen replacement in a hypergonoadotrophic hypogonadic patient with a 45,X/46,X,der (X) karyotype with SHOX gene overdosage

Mirian Yumie Nishi Rafaela Vieira Correa; Elaine Maria Frade Costa; Ana Elisa Correia Billerbreck; André Luis Cruzes; Sorahia Domenice; Luciani Renata Carvalho; Berenice Bilharinho de Mendonça

Arquivos brasileiros de endocrinologia e metabologia Rio de Janeiro v. 52, n. 8, p. 1282-1287, 2008

Rio de Janeiro 2008

Localização: FM - Fac. Medicina    (FM BCSEP 126 2008 )(Acessar)

6
Tall stature and poor breast development after estrogen replacement in a hypergonoadotrophic hypogonadic patient with a 45,X/46,X,der (X) karyotype with SHOX gene overdosage
Tall stature and poor breast development after estrogen replacement in a hypergonoadotrophic hypogonadic patient with a 45,X/46,X,der (X) karyotype with SHOX gene overdosage
Material Type:
Artigo 		Adicionar ao Meu Espaço

Tall stature and poor breast development after estrogen replacement in a hypergonoadotrophic hypogonadic patient with a 45,X/46,X,der (X) karyotype with SHOX gene overdosage

Mirian Yumie Nishi Rafaela Vieira Correa; Elaine Maria Frade Costa; Ana Elisa Correia Billerbreck; André Luis Cruzes; Sorahia Domenice; Luciani Renata Carvalho; Berenice Bilharinho de Mendonça

Arquivos brasileiros de endocrinologia e metabologia Rio de Janeiro v. 52, n. 8, p. 1282-1287, 2008

Rio de Janeiro 2008

Localização: FM - Fac. Medicina    (FM BCSEP 126 2008 )(Acessar)

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Deste Autor:

  1. Mendonça, B
  2. Costa, E
  3. Domenice, S
  4. Trarbach, E
  5. Hughes, V

Neste Assunto:

  1. Genes (Análise)
  2. Hipogonadismo
  3. Mutação Genética
  4. Transtornos Gonadais
  5. Fenótipos

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

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