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Resultados de 1 a 10 de 62  para Produção Intelectual da USP

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Refinado por: Nome da Publicação: Human Molecular Genetics remover idioma: Inglês remover
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1
GWAS of human bitter taste perception identifies new loci and reveals additional complexity of bitter taste genetics
GWAS of human bitter taste perception identifies new loci and reveals additional complexity of bitter taste genetics
Material Type:
Artigo 		Adicionar ao Meu Espaço

GWAS of human bitter taste perception identifies new loci and reveals additional complexity of bitter taste genetics

Mirko Ledda Zoltán Kutalik; Maria C. Souza Destito; Milena M Souza; Cintia A Cirillo; Amabilene Zamboni; Nathalie Martin; Edgard Morya; Koichi Sameshima; Jacques S Beckmann; Johannes le Coutre; Sven Bergmann; Ulrich K Genick

Human Molecular Genetics Oxford v. 23, n. 1, p. 259-267, 2014

Oxford 2014

Localização: FM - Fac. Medicina    (BCSEP 013 2014 )(Acessar)

2
Caveolin-3 in muscular dystrophy
Caveolin-3 in muscular dystrophy
Material Type:
Artigo 		Adicionar ao Meu Espaço

Caveolin-3 in muscular dystrophy

Elizabeth M McNally Eloísa de Sá Moreira; David J Duggan; Carsten G Bönnemann; Michael P Lisanti; Hart G W Lidov; Mariz Vainzof; Maria Rita Passos-Bueno; Eric P Hoffman; Mayana Zatz; Louis M Kunkel

Human Molecular Genetics v. 7, n. 5, p. 871-877, 1998

Oxford 1998

Item não circula. Consulte sua biblioteca.(Acessar)

3
Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)
Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)
Material Type:
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Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)

Andréa Laurato Sertié Vittorio Sossi; Ana Maria A Camargo; Mayana Zatz; Christina Brahe; Maria Rita Passos-Bueno

Human Molecular Genetics v. 9, n. 13, p. 2051-2058, 2000

Oxford 2000

Item não circula. Consulte sua biblioteca.(Acessar)

4
Genomic screening for 'BETA'-sarcoglycan gene mutations missense mutations may cause severe limb-girdle muscular dystrophy type 2e (lgmd 2e)
Genomic screening for 'BETA'-sarcoglycan gene mutations missense mutations may cause severe limb-girdle muscular dystrophy type 2e (lgmd 2e)
Material Type:
Artigo 		Adicionar ao Meu Espaço

Genomic screening for 'BETA'-sarcoglycan gene mutations missense mutations may cause severe limb-girdle muscular dystrophy type 2e (lgmd 2e)

C G Bonnemann Maria Rita Passos-Bueno; E M Mcnally; Mariz Vainzof; E S Moreira; Suely Kazue Nagahashi Marie; R C M Pavanello; S Noguchi; E Ozawa; Mayana Zatz; L M Kunkel

Oxford v.5 , n.12, p.1953-61, 1996 Human Molecular Genetics

Oxford 1996

Item não circula. Consulte sua biblioteca.(Acessar)

5
Common missense mutation in the adhalin gene in three unrelated brazilian families with a relatively mild form of autosomal recessive limb girdle muscular dystrophy
Common missense mutation in the adhalin gene in three unrelated brazilian families with a relatively mild form of autosomal recessive limb girdle muscular dystrophy
Material Type:
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Common missense mutation in the adhalin gene in three unrelated brazilian families with a relatively mild form of autosomal recessive limb girdle muscular dystrophy

Maria Rita Passos-Bueno E S Moreira; Mariz Vainzof; J Chamberlain; Suely Kazue Nagahashi Marie; L Pereira; J Y Akujama; S Roberds; K P Campbell; Mayana Zatz

Oxford v.4 , n.7 , p.1163-7, 1995 Human Molecular Genetics

Oxford 1995

Localização: FM - Fac. Medicina    (BCSEP 1995 250 )(Acessar)

6
A gene wich causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3
A gene wich causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3
Material Type:
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A gene wich causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3

A L Sertié M Quimby; E S Moreira; J Murray; Mayana Zatz; S E Antonarakis; Maria Rita Passos-Bueno

Human Molecular Genetics v. 5, n. 6, p. 843-847, 1996

1996

Item não circula. Consulte sua biblioteca.(Acessar)

7
Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD
Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD
Material Type:
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Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD

Maria Rita Passos-Bueno E S Moreira; Mariz Vainzof; Suely Kazue Nagahashi Marie; Mayana Zatz

Human Molecular Genetics v. 5, n. 6, p. 815-820, 1996

1996

Item não circula. Consulte sua biblioteca.(Acessar)

8
Exclusion of the 15q locus as a candidate gene for severe childhood autosomal recessive duchenne-like muscular dystrophy in brazilian families
Exclusion of the 15q locus as a candidate gene for severe childhood autosomal recessive duchenne-like muscular dystrophy in brazilian families
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Exclusion of the 15q locus as a candidate gene for severe childhood autosomal recessive duchenne-like muscular dystrophy in brazilian families

Maria Rita Passos-Bueno E Bakker; Suely Kazue Nagahashi Marie; R C M Pavanello; Mariz Vainzof; A. A Carvalho; D Cohen; J S Beckmann; Mayana Zatz

Oxford v.2 , n.2 , p.201-2, 1993 Human Molecular Genetics

Oxford 1993

Item não circula. Consulte sua biblioteca.(Acessar)

9
Genetic heterogeneity for duchenne-like muscular dystrophy (dlmd) based on linkage and 50 dag analysis
Genetic heterogeneity for duchenne-like muscular dystrophy (dlmd) based on linkage and 50 dag analysis
Material Type:
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Genetic heterogeneity for duchenne-like muscular dystrophy (dlmd) based on linkage and 50 dag analysis

Maria Rita Passos-Bueno J. R Oliveira; E Bakker; R D Anderson; Suely Kazue Nagahashi Marie; Mariz Vainzof; S Roberds; K P Campbell; Mayana Zatz

Oxford v.2 , n.11, p.1945-7, 1993 Human Molecular Genetics

Oxford 1993

Item não circula. Consulte sua biblioteca.(Acessar)

10
Is the maintanance of the c-terminus domain of dystrophin enough to ensure a milder becker muscular dystrophy phenotype?
Is the maintanance of the c-terminus domain of dystrophin enough to ensure a milder becker muscular dystrophy phenotype?
Material Type:
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Is the maintanance of the c-terminus domain of dystrophin enough to ensure a milder becker muscular dystrophy phenotype?

Mariz Vainzof R I Takata; Maria Rita Passos-Bueno; R C M Pavanello; Mayana Zatz

Oxford v.2 , n.1 , p.39-42, 1993 Human Molecular Genetics

Oxford 1993

Item não circula. Consulte sua biblioteca.(Acessar)

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Deste Autor:

  1. Passos-Bueno, M
  2. Zatz, M
  3. Vainzof, M
  4. Marie, S
  5. Moreira, E

Neste Assunto:

  1. Genética Médica
  2. Mutação Genética
  3. Fenótipos
  4. Genomas
  5. Mutação

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

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