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1
Endostatin measurement as preliminary screening test for the diagnosis of Knobloch syndrome
Endostatin measurement as preliminary screening test for the diagnosis of Knobloch syndrome
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Artigo de Congresso 		Adicionar ao Meu Espaço

Endostatin measurement as preliminary screening test for the diagnosis of Knobloch syndrome

Oscar T. Suzuki Fernando Kok; Vazken M Der Kaloustian; Björn Olsen; Annual Meeting of the American Society of Human Genetics (52. 2002 Baltimore)

Abstracts v. 71, n. 4, suppl., p. 287 res.678, oct. 2002

Baltimore 2002

Item não circula. Consulte sua biblioteca.(Acessar)

2
Endostatin T48 variant has an impaired affinity to basement membrane components
Endostatin T48 variant has an impaired affinity to basement membrane components
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Endostatin T48 variant has an impaired affinity to basement membrane components

Oscar T. Suzuki H Tu; T Pihlajaniemi; P. H Godoi; Glaucius Oliva; Bjørn Reino Olsen; Maria Rita Passos-Bueno; Annual Meeting of the American Society of Human Genetics (55. 2005 Salt Lake City)

Poster Salt Lake City, 2005

Salt Lake City 2005

Item não circula. Consulte sua biblioteca.(Acessar)

3
Partial telethonin deficiency in severely affected North American limb girdle muscular dystrophy patients
Partial telethonin deficiency in severely affected North American limb girdle muscular dystrophy patients
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Partial telethonin deficiency in severely affected North American limb girdle muscular dystrophy patients

S. T. Iannaccone David Muirhead; Nora Elmonoufy; Reuel Cornelia; Georgine Faulkner; G Valle; Oscar T Suzuki; Mayana Zatz; Mariz Vainzof; International Congress of the World Muscle Society (7. 2002 Rotterdam)

Neuromuscular Disorders v. 12, n. 7-8, p. 732, oct. 2002

Oxford 2002

Item não circula. Consulte sua biblioteca.(Acessar)

4
Caracterização de uma terceira isoforma de colágeno XVII e demonstração que nulissoma de qualquer uma das isoformas resulta em encefalocele occipital e alterações oculares (síndrome de Knobloch)
Caracterização de uma terceira isoforma de colágeno XVII e demonstração que nulissoma de qualquer uma das isoformas resulta em encefalocele occipital e alterações oculares (síndrome de Knobloch)
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Caracterização de uma terceira isoforma de colágeno XVII e demonstração que nulissoma de qualquer uma das isoformas resulta em encefalocele occipital e alterações oculares (síndrome de Knobloch)

Oscar T Suzuki A L Sertie; F Kok; J Murray; M Carpenter; Maria Rita Passos-Bueno; Congresso Nacional de Genética (47. 2001 Águas de Lindóia, SP)

A genética no século XXI: desafios Águas de Lindóia, 2001

Águas de Lindóia Sociedade Brasileira de Genética 2001

Item não circula. Consulte sua biblioteca.(Acessar)

5
Evidence of neuronal migration disorders in knobloch syndrome clinical and molecular analysis of two novel families
Evidence of neuronal migration disorders in knobloch syndrome clinical and molecular analysis of two novel families
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Artigo 		Adicionar ao Meu Espaço

Evidence of neuronal migration disorders in knobloch syndrome clinical and molecular analysis of two novel families

Susana Kliemann Ricardo T. L Waetge; Oscar T Suzuki; Maria Rita Passos-Bueno; Sergio Rosemberg

American Journal of Medical Genetics Reino Unido v. 119 A, n. 1, p. 15-19, 2003

Reino Unido 2003

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

6
Evidence of neuronal migration disorders in knobloch syndrome clinical and molecular analysis of two novel families
Evidence of neuronal migration disorders in knobloch syndrome clinical and molecular analysis of two novel families
Material Type:
Artigo 		Adicionar ao Meu Espaço

Evidence of neuronal migration disorders in knobloch syndrome clinical and molecular analysis of two novel families

Susana Kliemann Ricardo T. L Waetge; Oscar T Suzuki; Maria Rita Passos-Bueno; Sergio Rosemberg

American Journal of Medical Genetics Reino Unido v. 119 A, n. 1, p. 15-19, 2003

Reino Unido 2003

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

7
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. [http://www.jmedgenet.com/cgi/content/full/40/2/e12]
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. [http://www.jmedgenet.com/cgi/content/full/40/2/e12]
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Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. [http://www.jmedgenet.com/cgi/content/full/40/2/e12]

E. S. Moreira Mariz Vainzof; Oscar T Suzuki; Rita de Cássia M Pavanello; Mayana Zatz; Maria Rita Passos-Bueno

Journal of Medical Genetics v. 40, p. e12, 2003

London 2003

Item não circula. Consulte sua biblioteca.(Acessar)

8
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. [http://www.jmedgenet.com/cgi/content/full/40/2/e12]
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. [http://www.jmedgenet.com/cgi/content/full/40/2/e12]
Material Type:
Artigo 		Adicionar ao Meu Espaço

Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. [http://www.jmedgenet.com/cgi/content/full/40/2/e12]

E. S. Moreira Mariz Vainzof; Oscar T Suzuki; Rita de Cássia M Pavanello; Mayana Zatz; Maria Rita Passos-Bueno

Journal of Medical Genetics v. 40, p. e12, 2003

London 2003

Item não circula. Consulte sua biblioteca.(Acessar)

9
Limb-girdle muscular dystrophy type 2G is caudes by mutations in the gene encoding the sarcomeric protein telethonin. [Carta]
Limb-girdle muscular dystrophy type 2G is caudes by mutations in the gene encoding the sarcomeric protein telethonin. [Carta]
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Limb-girdle muscular dystrophy type 2G is caudes by mutations in the gene encoding the sarcomeric protein telethonin. [Carta]

Eloisa S. Moreira Tim J Wiltshire; Georgine Faulkner; Antje Nilforoushan; Mariz Vainzof; Oscar T Suzuki; Giorgio Valle; Roger Reeves; Mayana Zatz; Maria Rita Passos-Bueno; Dieter E Jenne

Nature Genetics v. 24, p. 163-166, Feb. 2000

New York 2000

Item não circula. Consulte sua biblioteca.(Acessar)

10
Limb-girdle muscular dystrophy type 2G is caudes by mutations in the gene encoding the sarcomeric protein telethonin. [Carta]
Limb-girdle muscular dystrophy type 2G is caudes by mutations in the gene encoding the sarcomeric protein telethonin. [Carta]
Material Type:
Artigo 		Adicionar ao Meu Espaço

Limb-girdle muscular dystrophy type 2G is caudes by mutations in the gene encoding the sarcomeric protein telethonin. [Carta]

Eloisa S. Moreira Tim J Wiltshire; Georgine Faulkner; Antje Nilforoushan; Mariz Vainzof; Oscar T Suzuki; Giorgio Valle; Roger Reeves; Mayana Zatz; Maria Rita Passos-Bueno; Dieter E Jenne

Nature Genetics v. 24, p. 163-166, Feb. 2000

New York 2000

Item não circula. Consulte sua biblioteca.(Acessar)

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Deste Autor:

  1. Suzuki, O
  2. Passos-Bueno, M
  3. Moreira, E
  4. Vainzof, M
  5. Zatz, M

Neste Assunto:

  1. Genética Médica
  2. Distrofia Muscular
  3. Colágeno
  4. Mutação Genética
  5. Oftalmopatias

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

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