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Refinado por: autor: Latronico, A remover assunto: Mutação Genética remover
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1
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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Artigo de Congresso 		Adicionar ao Meu Espaço

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)

2
An ancient founder mutation in PROKR2 impairs human reproduction
An ancient founder mutation in PROKR2 impairs human reproduction
Material Type:
Artigo 		Adicionar ao Meu Espaço

An ancient founder mutation in PROKR2 impairs human reproduction

Magdalena Avbelj Stefanija Marc Jeanpierre; Gerasimos P Sykiotis; Jacques Young; Richard Quinton; Ana Paula Abreu; Lacey Plummer; Margaret G Au; Ravikumar Balasubramanian; Andrew A Dwyer; Jose C Florez; Timothy Cheetham; Simon H Pearce; Radhika Purushothaman; Albert Schinzel; Michel Pugeat; Elka E Jacobson-Dickman; Svetlana Ten; Ana Claudia Latronico; James F Gusella; Catherine Dode; William F Crowley Jr; Nelly Pitteloud

Human Molecular Genetics Oxford v. 21, n. 19, p. 4314-4324, 2012

Oxford 2012

Acesso online. A biblioteca também possui exemplares impressos.

3
An ancient founder mutation in PROKR2 impairs human reproduction
An ancient founder mutation in PROKR2 impairs human reproduction
Material Type:
Artigo 		Adicionar ao Meu Espaço

An ancient founder mutation in PROKR2 impairs human reproduction

Magdalena Avbelj Stefanija Marc Jeanpierre; Gerasimos P Sykiotis; Jacques Young; Richard Quinton; Ana Paula Abreu; Lacey Plummer; Margaret G Au; Ravikumar Balasubramanian; Andrew A Dwyer; Jose C Florez; Timothy Cheetham; Simon H Pearce; Radhika Purushothaman; Albert Schinzel; Michel Pugeat; Elka E Jacobson-Dickman; Svetlana Ten; Ana Claudia Latronico; James F Gusella; Catherine Dode; William F Crowley Jr; Nelly Pitteloud

Human Molecular Genetics Oxford v. 21, n. 19, p. 4314-4324, 2012

Oxford 2012

Acesso online. A biblioteca também possui exemplares impressos.

4
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)

5
Central Precocious Puberty Caused by Mutations in the Imprinted Gene MKRN3
Central Precocious Puberty Caused by Mutations in the Imprinted Gene MKRN3
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Artigo 		Adicionar ao Meu Espaço

Central Precocious Puberty Caused by Mutations in the Imprinted Gene MKRN3

Ana Paula Abreu Andrew Dauber; Delanie B Macedo; Sekoni D Noel; Vinicius N Brito; John C Gill; Priscilla Cukier; Iain R Thompson; Victor M Navarro; Priscila C Gagliardi; Tânia Rodrigues; Cristiane Kochi; Carlos Alberto Longui; Dominique Beckers; Francis de Zegher; Luciana R Montenegro; Berenice B Mendonca; Rona S Carroll; Joel N Hirschhorn; Ana Claudia Latronico; Ursula B Kaiser

The New England Journal of Medicine Boston v. 368, n. 26, p. 2467-2475, 2013

Boston 2013

Localização: FM - Fac. Medicina    (BCSEP 297 2013 )(Acessar)

6
Central Precocious Puberty That Appears to Be Sporadic Caused by Paternally Inherited Mutations in the Imprinted Gene Makorin Ring Finger 3
Central Precocious Puberty That Appears to Be Sporadic Caused by Paternally Inherited Mutations in the Imprinted Gene Makorin Ring Finger 3
Material Type:
Artigo 		Adicionar ao Meu Espaço

Central Precocious Puberty That Appears to Be Sporadic Caused by Paternally Inherited Mutations in the Imprinted Gene Makorin Ring Finger 3

Delanie B. Macedo Ana Paula Abreu; Ana Claudia S Reis; Luciana R Montenegro; Andrew Dauber; Daiane Beneduzzi; Priscilla Cukier; Leticia F. G Silveira; Milena G Teles; Rona S Carroll; Gil Guerra Junior; Guilherme Guaragna Filho; Zoran Gucev; Ivo J. P Arnhold; Margaret de Castro; Ayrton C Moreira; Carlos Eduardo Martinelli Jr.; Joel N Hirschhorn; Berenice B Mendonca; Vinicius N Brito; Sonir R Antonini; Ursula B Kaiser; Ana Claudia Latronico

Journal of Clinical Endocrinology and Metabolism Springfield v. 99, n. 6, p. E1097-E1103, 2014

Springfield 2014

Localização: FM - Fac. Medicina    (BCSEP 023 2014 ) e outros locais(Acessar)

7
Evidence of the Importance of the First Intracellular Loop of Prokineticin Receptor 2 in Receptor Function
Evidence of the Importance of the First Intracellular Loop of Prokineticin Receptor 2 in Receptor Function
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Evidence of the Importance of the First Intracellular Loop of Prokineticin Receptor 2 in Receptor Function

Ana Paula Abreu Sekoni D Noel; Shuyun Xu; Rona S Carroll; Ana Claudia Latronico; Ursula B Kaiser

Molecular Endocrinology Baltimore v. 26, n. 8, p. 1417-1427, 2012

Baltimore 2012

Localização: FM - Fac. Medicina    (BCSEP 227 2012 )(Acessar)

8
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)

9
Mutations of the KISS1 gene in disorders of puberty
Mutations of the KISS1 gene in disorders of puberty
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations of the KISS1 gene in disorders of puberty

L. G. Silveira S. D Noel; A. P Silveira-Neto; A. P Abreu; V. N Brito; M. G Santos; S. D. C Bianco; W Kuohung; S Xu; M Gryngarten; M. E Escobar; I. J. P Arnhold; B. B Mendonca; U. B Kaiser; A. C Latronico

Journal of Clinical Endocrinology and Metabolism Philadelphia v. 95, n. 5, p. 2276-2280, 2010

Philadelphia 2010

Acesso online. A biblioteca também possui exemplares impressos.

10
Mutations of the KISS1 gene in disorders of puberty
Mutations of the KISS1 gene in disorders of puberty
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations of the KISS1 gene in disorders of puberty

L. G. Silveira S. D Noel; A. P Silveira-Neto; A. P Abreu; V. N Brito; M. G Santos; S. D. C Bianco; W Kuohung; S Xu; M Gryngarten; M. E Escobar; I. J. P Arnhold; B. B Mendonca; U. B Kaiser; A. C Latronico

Journal of Clinical Endocrinology and Metabolism Philadelphia v. 95, n. 5, p. 2276-2280, 2010

Philadelphia 2010

Acesso online. A biblioteca também possui exemplares impressos.

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Deste Autor:

  1. Latronico, A
  2. Abreu, A
  3. Kaiser, U
  4. Costa, E
  5. Trarbach, E

Neste Assunto:

  1. Fenótipos
  2. Hipogonadismo
  3. Puberdade Precoce
  4. Resumos (Eventos)
  5. Genes (Análise)

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

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