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11
A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism
A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism
Material Type:
Artigo 		Adicionar ao Meu Espaço

A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism

M. G. Teles E. B Trarbach; S. D Noel; G Guerra Junior; D Beneduzzi; S. D Bianco; Alexander A. L Jorge; A Mukherjee; M. T Baptista; E. M Costa; M. de Castro; B. B Mendonça; U. B Kaiser; A. C Latronico

European Journal of Endocrinology Bristol v. 163, n. 1, p. 29-34, 2010

Bristol 2010

Localização: FM - Fac. Medicina    (BCBIB )(Acessar)

12
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)

13
Analysis of major causative hypogonadotropic hypogonadism genes in patients with constitutional delay of growth and puberty
Analysis of major causative hypogonadotropic hypogonadism genes in patients with constitutional delay of growth and puberty
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Analysis of major causative hypogonadotropic hypogonadism genes in patients with constitutional delay of growth and puberty

Leticia F. G. Silveira Cintia Tusset; Lucas Moura; Daiane Beneduzzi; Milena Teles; Alexander A. L Jorge; 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. P1-d3-378, p. 119, 2012

Basel 2012

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

14
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:
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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.

15
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.

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Deste Autor:

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

Neste Assunto:

  1. Mutação Genética
  2. Hipogonadismo
  3. Puberdade Precoce
  4. Fibroblastos
  5. Fatores De Crescimento

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

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