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1
1031-1034delTAAC (Leu125Stop) a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes
1031-1034delTAAC (Leu125Stop) a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes
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Artigo 		Adicionar ao Meu Espaço

1031-1034delTAAC (Leu125Stop) a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes

Greice Andreotti de Molfetta Cristiane Ayres Ferreira; Daniel Onofre Vidal; Liane de Rosso Giuliani; Maria José Maldonado; Wilson Araújo da Silva Júnior

BMC Medical Genetics London v. 13, art. 124, 2012

London 2012

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 2395390 Estantes Deslizantes )(Acessar)

2
249 TP53 mutation has high prevalence and is correlated with larger and poorly differentiated HCC in Brazilian patients
249 TP53 mutation has high prevalence and is correlated with larger and poorly differentiated HCC in Brazilian patients
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Artigo 		Adicionar ao Meu Espaço

249 TP53 mutation has high prevalence and is correlated with larger and poorly differentiated HCC in Brazilian patients

Jeronimo A. Nogueira Suzane K Ono-Nita; Marcelo E Nita; Marcelo M. T. de Souza; Eliane P. do Carmo; Evandro S Mello; Cristovan Scapulatempo; Denise C Paranaguá-Vezozzo; Flair J Carrilho; Venancio A. F Alves

BMC Cancer London v. 9, n. 209, P. (on-line), 2009

London 2009

Localização: FM - Fac. Medicina    (BCSEP 223 2009 )(Acessar)

3
3'3-ditrifluoromethydiphenyl diselenide a new organoselenium compound with interesting antigenotoxic and antimutagenic activities
3'3-ditrifluoromethydiphenyl diselenide a new organoselenium compound with interesting antigenotoxic and antimutagenic activities
Material Type:
Artigo 		Adicionar ao Meu Espaço

3'3-ditrifluoromethydiphenyl diselenide a new organoselenium compound with interesting antigenotoxic and antimutagenic activities

Miriana da Silva Machado Izabel Vianna Villela; Dinara Jaqueline Moura; Renato Moreira Rosa; Mirian Salvador; Norberto Peporine Lopes; Antonio Luiz Braga; Rafael Roesler; Jenifer Saffi; João Antonio P Henriques

Mutation Research - Genetic Toxicology and Environmental Mutagenesis Amsterdam v. 673, n. 2, p. 133-140, 2009

Amsterdam 2009

Localização: FCFRP - Fac. Ciên. Farm. Ribeirão Preto    (pcd 1774250 )(Acessar)

4
3'3-ditrifluoromethydiphenyl diselenide a new organoselenium compound with interesting antigenotoxic and antimutagenic activities
3'3-ditrifluoromethydiphenyl diselenide a new organoselenium compound with interesting antigenotoxic and antimutagenic activities
Material Type:
Artigo 		Adicionar ao Meu Espaço

3'3-ditrifluoromethydiphenyl diselenide a new organoselenium compound with interesting antigenotoxic and antimutagenic activities

Miriana da Silva Machado Izabel Vianna Villela; Dinara Jaqueline Moura; Renato Moreira Rosa; Mirian Salvador; Norberto Peporine Lopes; Antonio Luiz Braga; Rafael Roesler; Jenifer Saffi; João Antonio P Henriques

Mutation Research - Genetic Toxicology and Environmental Mutagenesis Amsterdam v. 673, n. 2, p. 133-140, 2009

Amsterdam 2009

Localização: FCFRP - Fac. Ciên. Farm. Ribeirão Preto    (pcd 1774250 )(Acessar)

5
47,XXY Klinefelter Syndrome Associated with Partial Androgen Insensitivity Phenotype Conferred by a Complete Inactivating Mutation in the Androgen Receptor Gene
47,XXY Klinefelter Syndrome Associated with Partial Androgen Insensitivity Phenotype Conferred by a Complete Inactivating Mutation in the Androgen Receptor Gene
Material Type:
Artigo 		Adicionar ao Meu Espaço

47,XXY Klinefelter Syndrome Associated with Partial Androgen Insensitivity Phenotype Conferred by a Complete Inactivating Mutation in the Androgen Receptor Gene

Luciane C. de Carvalho Luciane C. de Carvalho; Alina C. R Feitosa; Andresa de Santi Rodrigues; Mirian Y Nishi; Rosa B Silva; Elaine Maria F Costa; Sorahia Domenice; 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-77, 2012

Chevy Chase 2012

Acesso online. A biblioteca também possui exemplares impressos.

6
47,XXY Klinefelter Syndrome Associated with Partial Androgen Insensitivity Phenotype Conferred by a Complete Inactivating Mutation in the Androgen Receptor Gene
47,XXY Klinefelter Syndrome Associated with Partial Androgen Insensitivity Phenotype Conferred by a Complete Inactivating Mutation in the Androgen Receptor Gene
Material Type:
Artigo 		Adicionar ao Meu Espaço

47,XXY Klinefelter Syndrome Associated with Partial Androgen Insensitivity Phenotype Conferred by a Complete Inactivating Mutation in the Androgen Receptor Gene

Luciane C. de Carvalho Luciane C. de Carvalho; Alina C. R Feitosa; Andresa de Santi Rodrigues; Mirian Y Nishi; Rosa B Silva; Elaine Maria F Costa; Sorahia Domenice; 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-77, 2012

Chevy Chase 2012

Acesso online. A biblioteca também possui exemplares impressos.

7
A ancestralidade de populações do Nordeste brasileiro com elevadas frequências de casamentos consanguí­neos e prevalência de doenças genéticas raras
A ancestralidade de populações do Nordeste brasileiro com elevadas frequências de casamentos consanguí­neos e prevalência de doenças genéticas raras
Material Type:
Tese de Doutorado 		Adicionar ao Meu Espaço

A ancestralidade de populações do Nordeste brasileiro com elevadas frequências de casamentos consanguí­neos e prevalência de doenças genéticas raras

Farias, Allysson Allan De

Biblioteca Digital de Teses e Dissertações da USP; Universidade de São Paulo; Instituto de Biociências 2018-10-05

Acesso online. A biblioteca também possui exemplares impressos.

8
A Brazilian family with inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia linked to the VCP pGly97Glu mutation
A Brazilian family with inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia linked to the VCP pGly97Glu mutation
Material Type:
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A Brazilian family with inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia linked to the VCP pGly97Glu mutation

Samuel Katsuyuki Shinjo Sueli Mieko Oba-shinjo; Antonio Marcondes Lerario; Suely Kazue Nagahashi Marie

Clinical rheumatology v. 37, n. 4, p. 1129-1136, 2018

London 2018

Localização: FM - Fac. Medicina    (OPI 262492018 )(Acessar)

9
A Case Report of a Novel Compound Heterozygous Mutation in a Brazilian Patient with Deficiency of IL1RA (DIRA)
A Case Report of a Novel Compound Heterozygous Mutation in a Brazilian Patient with Deficiency of IL1RA (DIRA)
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

A Case Report of a Novel Compound Heterozygous Mutation in a Brazilian Patient with Deficiency of IL1RA (DIRA)

Leonardo Oliveira Mendonça A Grassi; Pablo Michael Torres Cordova; L C Amorim; Fabio Fernandes Morato Castro; Alessandra Pontillo; I Ceccherini; M Gattorno; Myrthes Anna Maragna Toledo Barros; 2017 LASID Meeting Abstracts (37 2017 New York)

Journal of Clinical Immunology New York v. 37, Supl. 1, p. S19, res. PO-052, 2017

New York Springer New York LLC 2017

Localização: ICB - Inst. Ciências Biomédicas    (PC ICB BMI SEP 2017 )(Acessar)

10
A case report of a novel compound heterozygous mutation in a Brazilian patient with deficiency of Interleukin-1 receptor antagonist (DIRA)
A case report of a novel compound heterozygous mutation in a Brazilian patient with deficiency of Interleukin-1 receptor antagonist (DIRA)
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A case report of a novel compound heterozygous mutation in a Brazilian patient with deficiency of Interleukin-1 receptor antagonist (DIRA)

Leonardo Oliveira Mendonça Alice Grossi; Francesco Caroli; Robson Aguiar de Oliveira; Jorge Elias Kalil Filho; Fabio Fernandes Morato Castro; Alessandra Pontillo; Isabella Ceccherini; Myrthes Anna Maragna Toledo Barros; Marco Gattorno

Pediatric Rheumatology London v. 18, art. 67, 5 p., 2020

London 2020

Acesso online. A biblioteca também possui exemplares impressos.

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Deste Autor:

  1. Mendonça, B
  2. Maldonado, J
  3. Delamaro, M
  4. Latronico, A
  5. Castro, M

Neste Assunto:

  1. Mutação Genética
  2. Mutação
  3. Mutation
  4. Genética
  5. Fenótipos

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

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