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1
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion
Material Type:
Artigo 		Adicionar ao Meu Espaço

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

Paola S Denora David Schlesinger; Carlo Casali; Fernando Kok; Alessandra Tessa; Amir Boukhris; Hamid Azzedine; Maria Teresa Dotti; Claudio Bruno; Jeremy Truchetto; Roberta Biancheri; Estelle Fedirko; Maja Di Rocco; Clarissa Bueno; Alessandro Malandrini; Roberta Battini; Elisabeth Sickl; Maria Fulvia de Leva; Odile Boespflug-Tanguy; Gabriella Silvestri; Alessandro Simonati; Edith Said; Andreas Ferbert; Chiara Criscuolo; Karl Heinimann; Anna Modoni; Silvia Palmeri; Martina Plasilova; Flavia Pauri; Denise Cassandrini; Carla Battisti; Antonella Pini; Michela Tosetti; Erwin Hauser; Marcella Masciullo; Roberto Di Fabio; Francesca Piccolo; Elodie Denis; Giovanni Cioni; Roberto Massa; Elvio Della Giustina; Olga Calabrese; Marina A. B Melone; Giuseppe De Michele; Antonio Federico; Enrico Bertini; Alexandra Durr; Knut Brockmann; Marjo S. van der Knaap; Mayana Zatz; Alessandro Filla; Alexis Brice; Giovanni Stevanin; Filippo M Santorelli; Weber, Peter

Human Mutation Hoboken v. 30, n. 3, p. E500-E519, Mar. 2009

Hoboken 2009

Item não circula. Consulte sua biblioteca.(Acessar)

2
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion
Material Type:
Artigo 		Adicionar ao Meu Espaço

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

Paola S Denora David Schlesinger; Carlo Casali; Fernando Kok; Alessandra Tessa; Amir Boukhris; Hamid Azzedine; Maria Teresa Dotti; Claudio Bruno; Jeremy Truchetto; Roberta Biancheri; Estelle Fedirko; Maja Di Rocco; Clarissa Bueno; Alessandro Malandrini; Roberta Battini; Elisabeth Sickl; Maria Fulvia de Leva; Odile Boespflug-Tanguy; Gabriella Silvestri; Alessandro Simonati; Edith Said; Andreas Ferbert; Chiara Criscuolo; Karl Heinimann; Anna Modoni; Silvia Palmeri; Martina Plasilova; Flavia Pauri; Denise Cassandrini; Carla Battisti; Antonella Pini; Michela Tosetti; Erwin Hauser; Marcella Masciullo; Roberto Di Fabio; Francesca Piccolo; Elodie Denis; Giovanni Cioni; Roberto Massa; Elvio Della Giustina; Olga Calabrese; Marina A. B Melone; Giuseppe De Michele; Antonio Federico; Enrico Bertini; Alexandra Durr; Knut Brockmann; Marjo S. van der Knaap; Mayana Zatz; Alessandro Filla; Alexis Brice; Giovanni Stevanin; Filippo M Santorelli; Weber, Peter

Human Mutation Hoboken v. 30, n. 3, p. E500-E519, Mar. 2009

Hoboken 2009

Item não circula. Consulte sua biblioteca.(Acessar)

3
Deletion encompassing 50% of the coding region of the dystrophin gene is still compatible with a mild becker dystrophy (bmd) phenotype
Deletion encompassing 50% of the coding region of the dystrophin gene is still compatible with a mild becker dystrophy (bmd) phenotype
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Deletion encompassing 50% of the coding region of the dystrophin gene is still compatible with a mild becker dystrophy (bmd) phenotype

Maria Rita Passos-Bueno Mariz Vainzof; Suely Kazue Nagahashi Marie; Mayana Zatz; International Congress Neuromuscular Diseases (8. 1994 Kyoto)

New York n.suppl.1, p.s175, 1994 Muscle and Nerve

New York 1994

Item não circula. Consulte sua biblioteca.(Acessar)

4
Does germ-line deletion of the PIP gene constitute a widespread risk for cancer? [Carta]
Does germ-line deletion of the PIP gene constitute a widespread risk for cancer? [Carta]
Material Type:
Artigo 		Adicionar ao Meu Espaço

Does germ-line deletion of the PIP gene constitute a widespread risk for cancer? [Carta]

Amanda G Silva Ana Cristina Victorino Krepischi; Giovana T Torrezan; Leonardo P Capelli; Dirce M Carraro; Carla S D'Angelo; Celia Priszkulnik Koiffmann; Mayana Zatz; Michel Naslavsky; Cibele Masotti; Paulo A Otto; Maria I. W Achatz; Ryan E Mills; Charles Lee; Peter L Pearson; Carla Rosenberg

European Journal of Human Genetics London online, p. 1-3 on-line, 2013

London 2013

Item não circula. Consulte sua biblioteca.(Acessar)

5
A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retardation
A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retardation
Material Type:
Artigo 		Adicionar ao Meu Espaço

A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retardation

Debora Rapaport Maria Rita Passos-Bueno; Reinaldo Issao Takata; Simone Campiotto; Sabine Eggers; Mariz Vainzof; Adina Makover; Uri Nudel; David Yaffe; Mayana Zatz

Neuromuscular Disorders Oxford v. 2, n. 2, p. 117-120, 1992

Oxford 1992

Item não circula. Consulte sua biblioteca.(Acessar)

6
Deletion including the brain promoter of the duchenne muscular dystrophy gene is not associated with mental retardation
Deletion including the brain promoter of the duchenne muscular dystrophy gene is not associated with mental retardation
Material Type:
Artigo 		Adicionar ao Meu Espaço

Deletion including the brain promoter of the duchenne muscular dystrophy gene is not associated with mental retardation

D Rapaport Maria Rita Passos-Bueno; R I Takata; S Campiotto; S Eggers; M Vainzof; A Makover; U Nudel; D Yaffe; M Zatz

v.2 , n.2 , p.117-20, 1992 Neuromuscular Disorders

1992

Item não circula. Consulte sua biblioteca.(Acessar)

7
Deletion including the brain promoter of the duchenne muscular dystrophy gene is not associated with mental retardation
Deletion including the brain promoter of the duchenne muscular dystrophy gene is not associated with mental retardation
Material Type:
Artigo 		Adicionar ao Meu Espaço

Deletion including the brain promoter of the duchenne muscular dystrophy gene is not associated with mental retardation

D Rapaport Maria Rita Passos-Bueno; R I Takata; S Campiotto; S Eggers; Mariz Vainzof; A Makover; U Nudel; D Yaffe; Mayana Zatz

v.2 , n.2 , p.117-20, 1992 Neuromuscular Disorders

1992

Item não circula. Consulte sua biblioteca.(Acessar)

8
A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retardation
A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retardation
Material Type:
Artigo 		Adicionar ao Meu Espaço

A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retardation

Debora Rapaport Maria Rita Passos-Bueno; Reinaldo Issao Takata; Simone Campiotto; Sabine Eggers; Mariz Vainzof; Adina Makover; Uri Nudel; David Yaffe; Mayana Zatz

Neuromuscular Disorders Oxford v. 2, n. 2, p. 117-120, 1992

Oxford 1992

Item não circula. Consulte sua biblioteca.(Acessar)

9
Deletions involving exons 49-54 of the dystrophin gene seem to predispose to mental impairment in duchenne patients
Deletions involving exons 49-54 of the dystrophin gene seem to predispose to mental impairment in duchenne patients
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Deletions involving exons 49-54 of the dystrophin gene seem to predispose to mental impairment in duchenne patients

R Takata S Eggers; Maria Rita Passos-Bueno; M Zatz; International Congress of Human Genetics (9. 1996 Rio de Janeiro)

v.19, n.2 suppl., p.243, 1996 Brazilian Journal of Genetics = Revista Brasileira de Genetica

1996

Item não circula. Consulte sua biblioteca.(Acessar)

10
Is there an association between deletions/point mutations in the dystrophin gene and mental impaiment in Duchenne/Becker patients?
Is there an association between deletions/point mutations in the dystrophin gene and mental impaiment in Duchenne/Becker patients?
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Is there an association between deletions/point mutations in the dystrophin gene and mental impaiment in Duchenne/Becker patients?

Dulci do Nascimento Fonseca Vagenas A M P Cerqueira; A Torres; Rita de Cássia M Pavanello; Maria Rita Passos-Bueno; Mayana Zatz; Annual Meeting of the American Society of Human Genetics (52. 2002 Baltimore)

Abstracts v. 71, n. 4, suppl., p. 525 res.2083, oct. 2002

Baltimore 2002

Item não circula. Consulte sua biblioteca.(Acessar)

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Deste Autor:

  1. Zatz, M
  2. Passos-Bueno, M
  3. Takata, R
  4. Vainzof, M
  5. Rapaport, D

Neste Assunto:

  1. Genética Médica
  2. Distrofia Muscular
  3. Neuroftalmologia
  4. Diagnóstico
  5. Retardo Mental

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

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