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Refinado por: assunto: Mutação Genética remover
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1
A novel point mutation in a class IV glucose-6-phosphate dehydrogenase variant (G6PD São Paulo) and polymorphic G6PD variants in São Paulo State, Brazil
A novel point mutation in a class IV glucose-6-phosphate dehydrogenase variant (G6PD São Paulo) and polymorphic G6PD variants in São Paulo State, Brazil
Material Type:
Artigo 		Adicionar ao Meu Espaço

A novel point mutation in a class IV glucose-6-phosphate dehydrogenase variant (G6PD São Paulo) and polymorphic G6PD variants in São Paulo State, Brazil

Raimundo Antonio G. Oliveira Marilena Oshiro; Mario Hiroyuki Hirata; Rosario Dominguez Crespo Hirata; Georgina S Ribeiro; Tereza M. D Medeiros; Orlando C. de O Barretto

Genetics and Molecular Biology Ribeirão Preto v. 32, n. 2, p. 251-254, 2009

Ribeirão Preto 2009

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

2
A novel point mutation in a class IV glucose-6-phosphate dehydrogenase variant (G6PD São Paulo) and polymorphic G6PD variants in São Paulo State, Brazil
A novel point mutation in a class IV glucose-6-phosphate dehydrogenase variant (G6PD São Paulo) and polymorphic G6PD variants in São Paulo State, Brazil
Material Type:
Artigo 		Adicionar ao Meu Espaço

A novel point mutation in a class IV glucose-6-phosphate dehydrogenase variant (G6PD São Paulo) and polymorphic G6PD variants in São Paulo State, Brazil

Raimundo Antonio G. Oliveira Marilena Oshiro; Mario Hiroyuki Hirata; Rosario Dominguez Crespo Hirata; Georgina S Ribeiro; Tereza M. D Medeiros; Orlando C. de O Barretto

Genetics and Molecular Biology Ribeirão Preto v. 32, n. 2, p. 251-254, 2009

Ribeirão Preto 2009

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

3
Mutation screening of acid alpha-1,4-glucosidase gene in 64 patients from latin american
Mutation screening of acid alpha-1,4-glucosidase gene in 64 patients from latin american
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Mutation screening of acid alpha-1,4-glucosidase gene in 64 patients from latin american

R Silva Sueli Mieko Oba Shinjo; F G Andrade; Suely Kazue Nagahashi Marie; Simpósio "Avanços em Pesquisas Médicas dos Laboratórios de Investigação Médica do Hospital das Clínicas da FMUSP" (4. 2010 São Paulo, SP); Symposium "Advances in Medical Research of the Medical Investigation Laboratories of Hospital das Clínicas da Faculdade de Medicina da USP" (4. 2010 São Paulo, SP)

Clinics São Paulo v. 65, supl.6, p. S75, res. 84, 2010

São Paulo 2010

Localização: FM - Fac. Medicina    (BCBIB 2010 ) e outros locais(Acessar)

4
Pompe disease: further challenges to pursue [Editorial]
Pompe disease: further challenges to pursue [Editorial]
Material Type:
Artigo 		Adicionar ao Meu Espaço

Pompe disease: further challenges to pursue [Editorial]

Suely Kazue Nagahashi Marie

Arquivos de neuro-psiquiatria São Paulo v. 71, n. 5, p. 273-274, 2013

São Paulo 2013

Item não circula. Consulte sua biblioteca.(Acessar)

5
Mutations in the human phospholamban gene in patients with heart failure
Mutations in the human phospholamban gene in patients with heart failure
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutations in the human phospholamban gene in patients with heart failure

Alessandra Medeiros Diogo G Biagi; Tiago J. P Sobreira; Paulo Sérgio L. de Oliveira; C. E Negrão (Carlos Eduardo); Alfredo J Mansur; José Eduardo Krieger; Patricia Chakur Brum; Alexandre C Pereira

American Heart Journal St. Louis v. 162, n. 6, p. 1088-1095.e1, 2011

St. Louis 2011

Acesso online. A biblioteca também possui exemplares impressos.

6
A HIF1a Regulatory Loop Links Hypoxia and Mitochondrial Signals in Pheochromocytomas
A HIF1a Regulatory Loop Links Hypoxia and Mitochondrial Signals in Pheochromocytomas
Material Type:
Artigo 		Adicionar ao Meu Espaço

A HIF1a Regulatory Loop Links Hypoxia and Mitochondrial Signals in Pheochromocytomas

Patricia L. M. Dahia Ken N Ross; Matthew E Wright; César Y Hayashida; Sandro Santagata; Marta Barontini; Andrew L Kung; Gabriela Sanso; James F Powers; Arthur S Tischler; Richard Hodin; Shannon Heitritter; Francis Moore; Robert Dluhy; Julie Ann Sosa; I. Tolgay Ocal; Diana E Benn; Deborah J Marsh; Bruce G Robinson; Katherine Schneider; Judy Garber; Seth M Arum; Márta Korbonits; Ashley Grossman; Pascal Pigny; S. P. A Toledo (Sérgio Pereira de Almeida); Vania Nosé; Cheng Li; Charles D Stiles

PLOS Genetics San Francisco v. 1, n. 1, p. 72-80, July, 2005

San Francisco 2005

Localização: FM - Fac. Medicina    (FM BCSEP 250 2005 )(Acessar)

7
A HIF1a Regulatory Loop Links Hypoxia and Mitochondrial Signals in Pheochromocytomas
A HIF1a Regulatory Loop Links Hypoxia and Mitochondrial Signals in Pheochromocytomas
Material Type:
Artigo 		Adicionar ao Meu Espaço

A HIF1a Regulatory Loop Links Hypoxia and Mitochondrial Signals in Pheochromocytomas

Patricia L. M. Dahia Ken N Ross; Matthew E Wright; César Y Hayashida; Sandro Santagata; Marta Barontini; Andrew L Kung; Gabriela Sanso; James F Powers; Arthur S Tischler; Richard Hodin; Shannon Heitritter; Francis Moore; Robert Dluhy; Julie Ann Sosa; I. Tolgay Ocal; Diana E Benn; Deborah J Marsh; Bruce G Robinson; Katherine Schneider; Judy Garber; Seth M Arum; Márta Korbonits; Ashley Grossman; Pascal Pigny; S. P. A Toledo (Sérgio Pereira de Almeida); Vania Nosé; Cheng Li; Charles D Stiles

PLOS Genetics San Francisco v. 1, n. 1, p. 72-80, July, 2005

San Francisco 2005

Localização: FM - Fac. Medicina    (FM BCSEP 250 2005 )(Acessar)

8
Hyperinsulinism/hyperammonemia (HI/HA) syndrome due to a mutation in the glutamate dehydrogenase gene
Hyperinsulinism/hyperammonemia (HI/HA) syndrome due to a mutation in the glutamate dehydrogenase gene
Material Type:
Artigo 		Adicionar ao Meu Espaço

Hyperinsulinism/hyperammonemia (HI/HA) syndrome due to a mutation in the glutamate dehydrogenase gene

Maria Lúcia Corrêa-Giannella Daniel Soares Freire; Ana Mercedes Cavaleiro; Maria Angela Zanella Fortes; Ricardo Rodrigues Giorgi; Maria Adelaide Albergaria Pereira

Arquivos brasileiros de endocrinologia e metabologia São Paulo v. 56, n. 8, p. 485-489, 2012

São Paulo 2012

Localização: FM - Fac. Medicina    (BCSEP 422 2012 )(Acessar)

9
Telomere biology and telomerase mutations in cirrhotic patients with hepatocellular carcinoma
Telomere biology and telomerase mutations in cirrhotic patients with hepatocellular carcinoma
Material Type:
Artigo 		Adicionar ao Meu Espaço

Telomere biology and telomerase mutations in cirrhotic patients with hepatocellular carcinoma

Flávia Sacilotto Donaires Natália Ferreira Scatena; Raquel de Melo Alves Paiva; Joshua D Podlevsky; Dhenugen Logeswaran; Bárbara Amélia Aparecida Santana; Andreza Correa Teixeira; Julian J.-L Chen; Rodrigo Tocantins Calado; Ana de Lourdes Candolo Martinelli

PLOS ONE San Francisco v. 12, n. 8, art. e0183287, 2017

San Francisco 2017

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 2918009 Estantes Deslizantes )(Acessar)

10
Duplication of exons 8–9 in NCF2 leading to incomplete clinical penetrance in Chronic Granulomatous Disease
Duplication of exons 8–9 in NCF2 leading to incomplete clinical penetrance in Chronic Granulomatous Disease
Material Type:
Artigo 		Adicionar ao Meu Espaço

Duplication of exons 8–9 in NCF2 leading to incomplete clinical penetrance in Chronic Granulomatous Disease

Marco Antonio Venancio Hernandez Carlos Sanchez Flores; María Jiménez Juárez; Lizbeth Blancas Galicia; Sara Espinosa-Padilla; Antonio Condino Neto

Journal of Clinical Immunology New York v. 44, n. 1, 4 p., 2024

New York Springer New York LLC 2024

Item não circula. Consulte sua biblioteca.(Acessar)

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Deste Autor:

  1. Hayashida, C
  2. Oshiro, M
  3. Stiles, C
  4. Garber, J
  5. Powers, J

Neste Assunto:

  1. Fenótipos
  2. Genótipos
  3. Fosfatos (Enzimologia)
  4. Polimorfismo
  5. Feocromocitoma (Enzimologia)

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

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