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1
KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain report of another family with metopic craniosynostosis
KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain report of another family with metopic craniosynostosis
Material Type:
Artigo 		Adicionar ao Meu Espaço

KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain report of another family with metopic craniosynostosis

Amanda S. Brasil Alexsandra C Malaquias; Chong A Kim; José Eduardo Krieger; Alexander Augusto de Lima Jorge; Alexandre C Pereira; Débora Romeo Bertola

American journal of medical genetics part. A Hoboken v. 158A, n. 5, p. 1178\20131184, 2012

Hoboken 2012

Localização: FM - Fac. Medicina    (BCSEP 063 2012 )(Acessar)

2
KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain report of another family with metopic craniosynostosis
KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain report of another family with metopic craniosynostosis
Material Type:
Artigo 		Adicionar ao Meu Espaço

KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain report of another family with metopic craniosynostosis

Amanda S. Brasil Alexsandra C Malaquias; Chong A Kim; José Eduardo Krieger; Alexander Augusto de Lima Jorge; Alexandre C Pereira; Débora Romeo Bertola

American journal of medical genetics part. A Hoboken v. 158A, n. 5, p. 1178\20131184, 2012

Hoboken 2012

Localização: FM - Fac. Medicina    (BCSEP 063 2012 )(Acessar)

3
Neurofibromatosis-noonan syndrome: molecular evidence of the concurrence of both disorders in a patient
Neurofibromatosis-noonan syndrome: molecular evidence of the concurrence of both disorders in a patient
Material Type:
Artigo 		Adicionar ao Meu Espaço

Neurofibromatosis-noonan syndrome: molecular evidence of the concurrence of both disorders in a patient

Debora R. Bertola Alexandre C Pereira; Fábio Passetti; Paulo S. L. de Oliveira; Ludwine Messiaen; Bruce D Gelb; Chong A Kim; José Eduardo Krieger

American Journal of Medical Genetics New Jersey v. 136A, n. 3, p. 242-245, 2005

New Jersey 2005

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

4
Williams-Beuren Syndrome Diagnosis by Polymorphic Markers
Williams-Beuren Syndrome Diagnosis by Polymorphic Markers
Material Type:
Artigo 		Adicionar ao Meu Espaço

Williams-Beuren Syndrome Diagnosis by Polymorphic Markers

Ivanete C. Sbruzzi Alexandre C Pereira; Beatriz Vasconcelos; Raquel S Honjo; José Eduardo Krieger; Chong A Kim

Genetic Testing and Molecular Biomarkers New York v. 14, n. 2, p. 209-214, 2010

New York 2010

Acesso online. A biblioteca também possui exemplares impressos.

5
Neurofibromatosis-noonan syndrome: molecular evidence of the concurrence of both disorders in a patient
Neurofibromatosis-noonan syndrome: molecular evidence of the concurrence of both disorders in a patient
Material Type:
Artigo 		Adicionar ao Meu Espaço

Neurofibromatosis-noonan syndrome: molecular evidence of the concurrence of both disorders in a patient

Debora R. Bertola Alexandre C Pereira; Fábio Passetti; Paulo S. L. de Oliveira; Ludwine Messiaen; Bruce D Gelb; Chong A Kim; José Eduardo Krieger

American Journal of Medical Genetics New Jersey v. 136A, n. 3, p. 242-245, 2005

New Jersey 2005

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

6
Williams-Beuren Syndrome Diagnosis by Polymorphic Markers
Williams-Beuren Syndrome Diagnosis by Polymorphic Markers
Material Type:
Artigo 		Adicionar ao Meu Espaço

Williams-Beuren Syndrome Diagnosis by Polymorphic Markers

Ivanete C. Sbruzzi Alexandre C Pereira; Beatriz Vasconcelos; Raquel S Honjo; José Eduardo Krieger; Chong A Kim

Genetic Testing and Molecular Biomarkers New York v. 14, n. 2, p. 209-214, 2010

New York 2010

Acesso online. A biblioteca também possui exemplares impressos.

7
Are noonan syndrome and noonan-like/multiple giant cell lesion syndrome distinct entities?
Are noonan syndrome and noonan-like/multiple giant cell lesion syndrome distinct entities?
Material Type:
Artigo 		Adicionar ao Meu Espaço

Are noonan syndrome and noonan-like/multiple giant cell lesion syndrome distinct entities?

Débora R. Bertola Chong A Kim; Alexandre C Pereira; Glória F.A Mota; José Eduardo Krieger; Inês C Vieira; Marcelo Valente; Marcos Roberto Loreto; Roberto Pereira de Magalhães; Claudette Hajaj Gonzalez

American Journal of Medical Genetics v. 98, p. 230-234, 2001

New York 2001

Item não circula. Consulte sua biblioteca.(Acessar)

8
Are noonan syndrome and noonan-like/multiple giant cell lesion syndrome distinct entities?
Are noonan syndrome and noonan-like/multiple giant cell lesion syndrome distinct entities?
Material Type:
Artigo 		Adicionar ao Meu Espaço

Are noonan syndrome and noonan-like/multiple giant cell lesion syndrome distinct entities?

Débora R. Bertola Chong A Kim; Alexandre C Pereira; Glória F.A Mota; José Eduardo Krieger; Inês C Vieira; Marcelo Valente; Marcos Roberto Loreto; Roberto Pereira de Magalhães; Claudette Hajaj Gonzalez

American Journal of Medical Genetics v. 98, p. 230-234, 2001

New York 2001

Item não circula. Consulte sua biblioteca.(Acessar)

9
Estudo de marcadores polimórficos da região 7q11.23 para o diagnóstico da síndrome de Williams-Beuren
Estudo de marcadores polimórficos da região 7q11.23 para o diagnóstico da síndrome de Williams-Beuren
Material Type:
Dissertação de Mestrado 		Adicionar ao Meu Espaço

Estudo de marcadores polimórficos da região 7q11.23 para o diagnóstico da síndrome de Williams-Beuren

Sbruzzi, Ivanete Chaves

Biblioteca Digital de Teses e Dissertações da USP; Universidade de São Paulo; Faculdade de Medicina 2006-08-25

Acesso online. A biblioteca também possui exemplares impressos.

10
Evidences of autosomal recessive inheritance in unifocal subtype of fibromuscular dysplasia of the renal arteries
Evidences of autosomal recessive inheritance in unifocal subtype of fibromuscular dysplasia of the renal arteries
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Evidences of autosomal recessive inheritance in unifocal subtype of fibromuscular dysplasia of the renal arteries

Chong Ae Kim Lilian M. J Albano; R. B Palhares; S Mesquita; A. C Pereira; Jose Eduardo Krieger; European Human Genetics Conference (2002 Strasbourg, France); European Meeting on Psychosocial Aspects of Genetics (2002 Strasbourg, France)

European Journal of Human Genetics New York v. 10, supl. 1, p. 112, res. PO178, 2002

New York 2002

Localização: FM - Fac. Medicina    (BCSEP 2002 291 ) e outros locais(Acessar)

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Deste Autor:

  1. Kim, C
  2. Krieger, J
  3. Pereira, A
  4. Bertola, D
  5. Brasil, A

Neste Assunto:

  1. Mutação Genética
  2. Doenças Genéticas
  3. Fenótipos (Análise)
  4. Biomarcadores
  5. Polimorfismo

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

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