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1
Phenotype and behavior in patients with Algelman syndrome comparisons between the different classes of deletions and between patients with a deletion and with UPD
Phenotype and behavior in patients with Algelman syndrome comparisons between the different classes of deletions and between patients with a deletion and with UPD
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Phenotype and behavior in patients with Algelman syndrome comparisons between the different classes of deletions and between patients with a deletion and with UPD

M. C. Varela Fernando Kok; I Kohl; C. I. E Castro; Célia Priszkulnik Koiffmann; Annual Meeting of the American Society of Human Genetics (53. 2003 Los Angeles)

American Journal of Human Genetics v. 73, n. 5, suppl., p. 319, 2003

Baltimore 2003

Item não circula. Consulte sua biblioteca.(Acessar)

2
Clinical and molecular aspects of 25 brazilian Friedreich's patients
Clinical and molecular aspects of 25 brazilian Friedreich's patients
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Clinical and molecular aspects of 25 brazilian Friedreich's patients

Lilian Maria José Albano Mayana Zatz; C. A Kim; D Bertola; Sofia Mizuho Miura Sugayama; Maria Joaquina Marques Dias; Fernando Kok; I Ferrareto; Sérgio Rosemberg; S Cocozza; Alcir José Monticelli; Annual Meeting of the American Society of Human Genetics (2000 Chicago)

American Journal of Human Genetics v. 67, n. 4, suppl. 2, p. 409, outubro 2000

Chicago 2000

Localização: FM - Fac. Medicina    (BCSEP 2000 81 )(Acessar)

3
Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome
Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome

Oscar T. Suzuki Andréa Laurato Sertié; Vazken M Der Kaloustian; Fernando Kok; M Carpenter; J Murray; A E Czeizel; Susana E Kliemann; Sérgio Rosemberg; M Monteiro; Bjorn Reino Olsen; Maria Rita Passos-Bueno

American Journal of Human Genetics v. 71, p. 1320-1329, 2002

Baltimore 2002

Item não circula. Consulte sua biblioteca.(Acessar)

4
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis
Material Type:
Artigo 		Adicionar ao Meu Espaço

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis

Agnes L. Nishimura Miguel Mitne Neto; Helga C. A Silva; Antonio Richieri-Costa; Susan Middleton; Duilio Cascio; Fernando Kok; João R. M Oliveira; Tom Gillingwater; Jeanette Webb; Paul Skehel; Mayana Zatz

American Journal of Human Genetics v. 75, n. 5, p. 822-831, Nov., 2004

Baltimore 2004

Item não circula. Consulte sua biblioteca.(Acessar)

5
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis
Material Type:
Artigo 		Adicionar ao Meu Espaço

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis

Agnes Lumi Nishimura Miguel Mitne Neto; Helga Cristina Almeida da Silva; Antonio Richieri-Costa; Susan Middleton University of Edinburgh - Division of Neuroscience, Edinburgh; Duilio Cascio; Fernando Kok; João Ricardo Mendes de Oliveira; T Gillingwater; Jeanette Webb; Paul Skehel; Mayana Zatz

American Journal of Human Genetics v. 75, n. 5, p. 822-831, 2004

Baltimore 2004

Acesso online

6
Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome
Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome

Oscar T. Suzuki Andréa Laurato Sertié; Vazken M Der Kaloustian; Fernando Kok; M Carpenter; J Murray; A E Czeizel; Susana E Kliemann; Sérgio Rosemberg; M Monteiro; Bjorn Reino Olsen; Maria Rita Passos-Bueno

American Journal of Human Genetics v. 71, p. 1320-1329, 2002

Baltimore 2002

Item não circula. Consulte sua biblioteca.(Acessar)

7
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis
Material Type:
Artigo 		Adicionar ao Meu Espaço

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis

Agnes L. Nishimura Miguel Mitne Neto; Helga C. A Silva; Antonio Richieri-Costa; Susan Middleton; Duilio Cascio; Fernando Kok; João R. M Oliveira; Tom Gillingwater; Jeanette Webb; Paul Skehel; Mayana Zatz

American Journal of Human Genetics v. 75, n. 5, p. 822-831, Nov., 2004

Baltimore 2004

Item não circula. Consulte sua biblioteca.(Acessar)

8
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis
Material Type:
Artigo 		Adicionar ao Meu Espaço

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis

Agnes Lumi Nishimura Miguel Mitne Neto; Helga Cristina Almeida da Silva; Antonio Richieri-Costa; Susan Middleton University of Edinburgh - Division of Neuroscience, Edinburgh; Duilio Cascio; Fernando Kok; João Ricardo Mendes de Oliveira; T Gillingwater; Jeanette Webb; Paul Skehel; Mayana Zatz

American Journal of Human Genetics v. 75, n. 5, p. 822-831, 2004

Baltimore 2004

Acesso online

9
Collagen XVIII, containing an endogenous inhibitor of angiogenesis, 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, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

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

Andréa Laurato Sertié O Suzuki; Vittorio Sossi; Fernando Kok; A E Czeizel; M Monteiro; J Murray; A Camargo; N Fukai; Mayana Zatz; Bjorn Reino Olsen; Christina Brahe; Maria Rita Passos-Bueno; Annual Meeting of the American Society of Human Genetics (50. 2000 Philadelphia)

American Journal of Human Genetics v. 67, n. 4, suppl. 2, p. 40 R 143, Oct. 2000

Chicago 2000

Item não circula. Consulte sua biblioteca.(Acessar)

10
Molecular Analysis of Collagen XVIII Reveals Novel Mutations, Presence of a Third Isoform, and Possible Genetic Heterogeneity in Knobloch Syndrome
Molecular Analysis of Collagen XVIII Reveals Novel Mutations, Presence of a Third Isoform, and Possible Genetic Heterogeneity in Knobloch Syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Molecular Analysis of Collagen XVIII Reveals Novel Mutations, Presence of a Third Isoform, and Possible Genetic Heterogeneity in Knobloch Syndrome

Suzuki, O.T. ; Sertié, A.L. ; Der Kaloustian, V.M. ; Kok, F. ; Carpenter, M. ; Murray, J. ; Czeizel, A.E. ; Kliemann, S.E. ; Rosemberg, S. ; Monteiro, M. ; Olsen, B.R. ; Passos-Bueno, M.R.

American journal of human genetics, 2002-12, Vol.71 (6), p.1320-1329 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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Deste Autor:

  1. Kok, F
  2. Zatz, M
  3. Oliveira, J
  4. Silva, H
  5. Skehel, P

Neste Assunto:

  1. Genetics & Heredity
  2. Life Sciences & Biomedicine
  3. Science & Technology
  4. Humans
  5. Pedigree

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

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