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1
Hemizygous deletion of FGFR1 gene identified in a patient with congenital normosmic isolated hypogonadotropic hypogonadism by ligation-dependent probe amplification analysis
Hemizygous deletion of FGFR1 gene identified in a patient with congenital normosmic isolated hypogonadotropic hypogonadism by ligation-dependent probe amplification analysis
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Hemizygous deletion of FGFR1 gene identified in a patient with congenital normosmic isolated hypogonadotropic hypogonadism by ligation-dependent probe amplification analysis

M. G. Teles E. B Trarbach; E. M. F Costa; A. P Abreu; G Guerra Júnior; M. T. M Batista; Margaret de Castro; Berenice Bilharinho de Mendonça; Annual Meeting of the Endocrine Society (90. 2008 San Francisco)

Program and Abstracts Book San Francisco, 2008

San Francisco 2008

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 1682883 ) e outros locais(Acessar)

2
A homozygous nonsense mutation in the prokineticin receptor-2 gene in a patient with sporadic kallmann syndrome
A homozygous nonsense mutation in the prokineticin receptor-2 gene in a patient with sporadic kallmann syndrome
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A homozygous nonsense mutation in the prokineticin receptor-2 gene in a patient with sporadic kallmann syndrome

A. P. Abreu E. B Trarbach; M Castro; E. M. F Costa; B Versiani; M. T. M Baptista; H. M Garnes; Berenice Bilharinho de Mendonça; A. C Latronico; T. A. S. S Bachega; Simpósio avanços em pesquisas médicas (3. 2007 São Paulo, SP); Symposium "Advances in Medical Research of the Medical Investigation Laboratories of Hospital das Clínicas da Faculdade de Medicina - USP" (3. 2007 São Paulo, SP)

Clinics São Paulo v. 62, supl. 3, p. S82, res. 276, 2007

São Paulo 2007

Localização: FM - Fac. Medicina    (BCBIB ) e outros locais(Acessar)

3
Congenital isolated hypogonadotropic hypogonadism a detailed clinical and molecular characterization of a Brazilian patient cohort
Congenital isolated hypogonadotropic hypogonadism a detailed clinical and molecular characterization of a Brazilian patient cohort
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Congenital isolated hypogonadotropic hypogonadism a detailed clinical and molecular characterization of a Brazilian patient cohort

Letícia F. G. Silveira Milena G Teles; Ana P Abreu; Luciana Ribeiro Montenegro; Cíntia Tusset; Daiane Beneduzzi; Margaret de Castro; Elaine M. F Costa; Adriana Lofrano-Porto; Maria T. M Baptista; Heraldo M Garmes; Gil Guerra-Júnior; Berenice Bilharinho de Mendonça; Ana C Latronico; Ericka B Trarbach; International Pituitary Congress (12. 2011 Boston)

Endocrine Reviews Chevy Chase v. 32, suppl. 3, res. P3-707, 2011

Chevy Chase 2011

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 2219446 Estantes Deslizantes ) e outros locais(Acessar)

4
Heterozygous FGFR1 gene deletion detected by MLPA in a woman with isolated hypogonadotropic hypogonadism
Heterozygous FGFR1 gene deletion detected by MLPA in a woman with isolated hypogonadotropic hypogonadism
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Heterozygous FGFR1 gene deletion detected by MLPA in a woman with isolated hypogonadotropic hypogonadism

M. G. Teles E. B Trarbach; E. M. F Costa; A. P Abreu; B. B Mendonça; Ana Claudia X Latronico; International Congress of Endocrinology 2008 (13. Rio de Janeiro)

Arquivos Brasileiros de Endocrinologia e Metabologia São Paulo v. 52, supl. 6, parte II, p. S793, res. OP-094, 2008

São Paulo 2008

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

5
Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification detection of a hemizygosis for the fibroblast growth factor receptor 1
Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification detection of a hemizygosis for the fibroblast growth factor receptor 1
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Artigo 		Adicionar ao Meu Espaço

Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification detection of a hemizygosis for the fibroblast growth factor receptor 1

Ericka Barbosa Trarbach Milena Gurgel Teles; Elaine Maria Frade Costa; Ana Paula Abreu; Heraldo Mendes Garmes; Gil Guerra Junior; Maria Tereza Matias Baptista; Margaret de Castro; Berenice Bilharinho Mendonca; Ana Claudia Latronico

Clinical endocrinology Oxford v. 72, n. 3, p. 371-376, 2010

Oxford 2010

Acesso online. A biblioteca também possui exemplares impressos.

6
Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification detection of a hemizygosis for the fibroblast growth factor receptor 1
Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification detection of a hemizygosis for the fibroblast growth factor receptor 1
Material Type:
Artigo 		Adicionar ao Meu Espaço

Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification detection of a hemizygosis for the fibroblast growth factor receptor 1

Ericka Barbosa Trarbach Milena Gurgel Teles; Elaine Maria Frade Costa; Ana Paula Abreu; Heraldo Mendes Garmes; Gil Guerra Junior; Maria Tereza Matias Baptista; Margaret de Castro; Berenice Bilharinho Mendonca; Ana Claudia Latronico

Clinical endocrinology Oxford v. 72, n. 3, p. 371-376, 2010

Oxford 2010

Acesso online. A biblioteca também possui exemplares impressos.

7
Autosomal recessive kallmann syndrome caused by mutations in the genes encoding prokineticin 2 and prokineticin receptor 2
Autosomal recessive kallmann syndrome caused by mutations in the genes encoding prokineticin 2 and prokineticin receptor 2
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Autosomal recessive kallmann syndrome caused by mutations in the genes encoding prokineticin 2 and prokineticin receptor 2

A. P. Abreu E. B Trarbach; Margaret de Castro; E. M. F Costa; B Versiani; G Guerra Júnior; M. T. M Baptista; H. M Garmes; Berenice Bilharinho de Mendonça; A. C Latronico; Annual Meeting of the Endocrine Society (90. 2008 San Francisco)

Program and Abstracts Book San Francisco, 2008

San Francisco 2008

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 1682900 ) e outros locais(Acessar)

8
Two novel nonsense mutations of the fibroblast growth factor 8 in patients with congenital isolated hypogonadotropic hypogonadism
Two novel nonsense mutations of the fibroblast growth factor 8 in patients with congenital isolated hypogonadotropic hypogonadism
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Two novel nonsense mutations of the fibroblast growth factor 8 in patients with congenital isolated hypogonadotropic hypogonadism

E. B. Trarbach A. P Abreu; E. M. F Costa; M Teles; G Guerra Júnior; M. T. M Baptista; H. M Garmes; Margaret de Castro; Berenice Bilharinho de Mendonça; A. C Latronico; Annual Meeting of the Endocrine Society (90. 2008 San Francisco)

Program and Abstracts Book San Francisco, 2008

San Francisco 2008

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 1683161 ) e outros locais(Acessar)

9
Phenotype-genotype correlations in patients with inactivating gonadotropin hormone receptor mutations
Phenotype-genotype correlations in patients with inactivating gonadotropin hormone receptor mutations
Material Type:
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Phenotype-genotype correlations in patients with inactivating gonadotropin hormone receptor mutations

Daiane Beneduzzi Elaine M. F Costa; Ana Paula Abreu; Adriana Lofrano-Porto; Leticia G. F Silveira; Berenice B Mendonça; Ericka B Trarbach; Ana Claudia Latronico; 51th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE) 51 2012 Leipzig, Germany

Hormone research in paediatrics Basel v.78, n. suppl. 1, Res. FC12-148, p. 42, 2012

Basel 2012

Localização: FM - Fac. Medicina    (BCSEP 334 2012 ) e outros locais(Acessar)

10
Mutations in the prokineticin receptor-2 gene in patients with Kallmann syndrome
Mutations in the prokineticin receptor-2 gene in patients with Kallmann syndrome
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Mutations in the prokineticin receptor-2 gene in patients with Kallmann syndrome

Ana Paula Abreu Ericka Trarbach; Margaret de Castro; Elaine M. F Costa; Beatriz Versiani; Maria Tereza M Baptista; Heraldo M Garmes; Berenice B Mendonça; Ana Claudia Latronico; The Endocrine Society's Annual Meeting (ENDO) (89. 2007 Toronto)

Program and Abstracts Toronto, 2007

Toronto 2007

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 1619599 ) e outros locais(Acessar)

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Deste Autor:

  1. Costa, E
  2. Abreu, A
  3. Trarbach, E
  4. Latronico, A
  5. Mendonça, B

Neste Assunto:

  1. Hipogonadismo
  2. Mutação Genética
  3. Fenótipos
  4. Resumos (Eventos)
  5. Síndrome De Kallmann

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

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