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Refinado por: autor: Latronico, A remover assunto: Mutação Genética remover
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1
Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty
Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty
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Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty

Andrew Dauber Marina Cunha-Silva; Delanie B Macedo; Vinicius N Brito; Ana Paula Abreu; Stephanie A Roberts; Luciana R Montenegro; Melissa Andrew; Andrew Kirby; Matthew T Weirauch; Guillaume Labilloy; Danielle S Bessa; Rona S Carroll; Dakota C Jacobs; Patrick E Chappell; Berenice B Mendonca; David Haig; Ursula B Kaiser; Ana Claudia Latronico

Journal of clinical endocrinology and metabolism Springfield v. 102, n. 5, p. 1557-1567, 2017

Springfield 2017

Localização: FM - Fac. Medicina    (BCSEP 130 2017 )(Acessar)

2
Time course of central precocious puberty development caused by an MKRN3 gene mutation a prismatic care
Time course of central precocious puberty development caused by an MKRN3 gene mutation a prismatic care
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Time course of central precocious puberty development caused by an MKRN3 gene mutation a prismatic care

Monica F. Stecchini Delanie B Macedo; Ana Claudia S Reis; Ana Paula Abreu; Ayrton Custódio Moreira; Margaret de Castro; Ursula B Kaiser; Ana Claudia Latronico; Sonir Roberto Rauber Antonini

Hormone Research in Paediatrics Basel v. 86, n. 2, p. 126-130, 2016

Basel 2016

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 2853580 Estantes Deslizantes )(Acessar)

3
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
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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)

4
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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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)

5
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)

6
Phenotype–Genotype Correlations in Patients with Inactivating Gonadotropin Hormone Receptor Mutations
Phenotype–Genotype Correlations in Patients with Inactivating Gonadotropin Hormone Receptor Mutations
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Phenotype–Genotype Correlations in Patients with Inactivating Gonadotropin Hormone Receptor Mutations

Daiane Beneduzzi Elaine M. F Costa; Leticia Silveira; Ericka Trarbach; Ana Paula Abreu; Adriana Lofrano Porto; Ana C Latronico; 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-618, 2012

Chevy Chase 2012

Acesso online. A biblioteca também possui exemplares impressos.

7
Phenotype–Genotype Correlations in Patients with Inactivating Gonadotropin Hormone Receptor Mutations
Phenotype–Genotype Correlations in Patients with Inactivating Gonadotropin Hormone Receptor Mutations
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Phenotype–Genotype Correlations in Patients with Inactivating Gonadotropin Hormone Receptor Mutations

Daiane Beneduzzi Elaine M. F Costa; Leticia Silveira; Ericka Trarbach; Ana Paula Abreu; Adriana Lofrano Porto; Ana C Latronico; 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-618, 2012

Chevy Chase 2012

Acesso online. A biblioteca também possui exemplares impressos.

8
A PROKR2 Mutant Exerts Dominant Negative Effects on Wild-Type PROKR2 New Insights into the Effects of PROKR2 Heterozygous Mutations
A PROKR2 Mutant Exerts Dominant Negative Effects on Wild-Type PROKR2 New Insights into the Effects of PROKR2 Heterozygous Mutations
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A PROKR2 Mutant Exerts Dominant Negative Effects on Wild-Type PROKR2 New Insights into the Effects of PROKR2 Heterozygous Mutations

Ana Paula Abreu Shuvun Xu; Sekomi D Noel; Rona S Carroll; Ursula B Kaiser; Ana C Latronico; ENDO 2012: The Endocrine Society's 94th Annual Meeting & Expo 94 2012 Houston, Texas

Endocrine Reviews Chevy Chase v. 33, 03_meetingAbstracts, Res. SAT-687, 2012

Chevy Chase 2012

Acesso online. A biblioteca também possui exemplares impressos.

9
An ancient founder mutation in PROKR2 impairs human reproduction
An ancient founder mutation in PROKR2 impairs human reproduction
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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.

10
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.

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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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