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Refinado por: assunto: Mutação Genética remover
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1
X-linked charcot-marie-tooth disease (CMTX) identification of a new mutation in the connexin 32 gene (CX32)
X-linked charcot-marie-tooth disease (CMTX) identification of a new mutation in the connexin 32 gene (CX32)
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

X-linked charcot-marie-tooth disease (CMTX) identification of a new mutation in the connexin 32 gene (CX32)

S. P. G. Lima V. H. S Borghetti; Amilton Antunes Barreira; Wilson Marques Júnior; Congresso Brasileiro de Neurologia (22. 2006 Recife); Encontro Luso-Brasileiro de Neurologia (6. 2006 Recife); Congresso da Federação Latino-Americana de Neurologia (NEUROSUR) (2. 2006 Recife)

Arquivos de Neuro-Psiquiatria São Paulo v. 64, supl. 1, p. 142, res. P-471, 2006

São Paulo 2006

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 1595576 ) e outros locais(Acessar)

2
Analysis of the presence of the GJB6 mutations in patients heterozygous for GJB2 mutation in Brazil
Analysis of the presence of the GJB6 mutations in patients heterozygous for GJB2 mutation in Brazil
Material Type:
Artigo 		Adicionar ao Meu Espaço

Analysis of the presence of the GJB6 mutations in patients heterozygous for GJB2 mutation in Brazil

Maria Carolina Braga Norte Esteves Myriam de Lima Isaac; Anete Maria Francisco; Wilson Araújo da Silva Júnior; Cristiane Ayres Ferreira; Ana Helena Banwart Dell'Aringa

European Archives of Oto-Rhino-Laryngology Heidelberg v. 271, n. 4, p. 695-699, 2014

Heidelberg 2014

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 2466206 Estantes Deslizantes )(Acessar)

3
Molecular analysis of the most prevalent mutations of the FANCA and FANCC genes in Brazilian patients with FAnconi anaemia
Molecular analysis of the most prevalent mutations of the FANCA and FANCC genes in Brazilian patients with FAnconi anaemia
Material Type:
Artigo 		Adicionar ao Meu Espaço

Molecular analysis of the most prevalent mutations of the FANCA and FANCC genes in Brazilian patients with FAnconi anaemia

David Enrique Aguilar Rodriguez Carmen Silvia Passos Lima; Gustavo Jacob Lourenço; Maria Estela Figueiredo; Jorge David Aivazoglou Carneiro; Luiz Gonzaga Tone; Juan Clinton Llerena Júnior; Raquel Alves Toscano; Sílvia Brandalise; Walter Pinto Júnior; Fernando Ferreira Costa; Carmem Sílvia Bertuzzo

Genetics and molecular biology Ribeirão Preto v. 28, n. 2, p. 205-209, 2005

Ribeirão Preto 2005

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 1496168 )(Acessar)

4
Molecular analysis of the most prevalent mutations of the FANCA and FANCC genes in Brazilian patients with FAnconi anaemia
Molecular analysis of the most prevalent mutations of the FANCA and FANCC genes in Brazilian patients with FAnconi anaemia
Material Type:
Artigo 		Adicionar ao Meu Espaço

Molecular analysis of the most prevalent mutations of the FANCA and FANCC genes in Brazilian patients with FAnconi anaemia

David Enrique Aguilar Rodriguez Carmen Silvia Passos Lima; Gustavo Jacob Lourenço; Maria Estela Figueiredo; Jorge David Aivazoglou Carneiro; Luiz Gonzaga Tone; Juan Clinton Llerena Júnior; Raquel Alves Toscano; Sílvia Brandalise; Walter Pinto Júnior; Fernando Ferreira Costa; Carmem Sílvia Bertuzzo

Genetics and molecular biology Ribeirão Preto v. 28, n. 2, p. 205-209, 2005

Ribeirão Preto 2005

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 1496168 )(Acessar)

5
Identification of mutations in exon 20 of the PIK3CA gene in patients with breast cancer of Southest Bahia
Identification of mutations in exon 20 of the PIK3CA gene in patients with breast cancer of Southest Bahia
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Identification of mutations in exon 20 of the PIK3CA gene in patients with breast cancer of Southest Bahia

J. S. Oliveira C. A Faria; V. B Silva; Wilson Araújo da Silva Júnior; C. L Macedo; S. M. B Sousa; P. S. P Lima; Congresso Brasileiro de Genética (59. 2013 Águas de Lindóia)

Abstracts Águas de Lindóia : SBG, 2013

Águas de Lindóia SBG 2013

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 2447144 Estantes Deslizantes )(Acessar)

6
A de novo novel mutation in MFN2 associated with early onset, severe neuropathy and learning problems
A de novo novel mutation in MFN2 associated with early onset, severe neuropathy and learning problems
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

A de novo novel mutation in MFN2 associated with early onset, severe neuropathy and learning problems

Wilson Marques Júnior Adriana Genari; Vinicius H. S Borghtti; Silmara P. G Lima; Antônio Carlos dos Santos; Amilton Antunes Barreira; Annual Meeting of The American Academy of Neurology (60. 2008 Chicago)

Neurology Philadelphia v. 70, n. 11, suppl. 1, p. A312, res. P06.053, 2008

Philadelphia 2008

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 1669348 ) e outros locais(Acessar)

7
A mild and unusual CMT compound phenotype due to the presence of two mutations in pmP22 gene 17p duplication and Ser72Leuc
A mild and unusual CMT compound phenotype due to the presence of two mutations in pmP22 gene 17p duplication and Ser72Leuc
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

A mild and unusual CMT compound phenotype due to the presence of two mutations in pmP22 gene 17p duplication and Ser72Leuc

Wilson Marques Júnior Silmara S. P. G Lima; Vinicius H. S Borghtti; Keity C Bueno; Amilton Antunes Barreira; Annual Meeting of The American Academy of Neurology (60. 2008 Chicago)

Neurology Philadelphia v. 70, n. 11, suppl. 1, p. A313, res. P06.058, 2008

Philadelphia 2008

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 1669388 ) e outros locais(Acessar)

8
A novel mutation in the NCF2 gene in a CGD patient with chronic recurrent pneumopathy
A novel mutation in the NCF2 gene in a CGD patient with chronic recurrent pneumopathy
Material Type:
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A novel mutation in the NCF2 gene in a CGD patient with chronic recurrent pneumopathy

José Antônio Tavares de Albuquerque Alessandra Miramontes Lima; Edgar Borges de Oliveira Junior; Edson Kiyotaka Ishizuka; Walmir Cutrim Aragão-Filho; Nuria Bengala Zurro; Sônia Mayumi Chiba; Fátima Rodrigues Fernandes; Antonio Condino Neto

Frontiers in Pediatrics Lausanne v. 7, art. 391, p. 1-5, 2019

Lausanne 2019

Item não circula. Consulte sua biblioteca.(Acessar)

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Deste Autor:

  1. Barreira, A
  2. Marques Júnior, W
  3. Lima, S
  4. Pinto Júnior, W
  5. Brandalise, S

Neste Assunto:

  1. Anemia
  2. Doenças Genéticas
  3. Imunogenética
  4. Sequenciamento Genético
  5. Fenótipos

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

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