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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
Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome does this predict a more severe phenotype?
Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome does this predict a more severe phenotype?
Material Type:
Artigo 		Adicionar ao Meu Espaço

Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome does this predict a more severe phenotype?

Amanda Salem Brasil Alexsandra C Malaquias; Luciana Turolla Wanderley; Chong Ae Kim; José Eduardo Krieger; Alexander A. L Jorge; Alexandre C Pereira; Débora Romeo Bertola

Arquivos Brasileiros de Endocrinologia e Metabologia São Paulo v. 54, n. 8, p. 717-722, 2010

São Paulo 2010

Localização: FM - Fac. Medicina    (BCSEP 343 2010 )(Acessar)

4
Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome does this predict a more severe phenotype?
Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome does this predict a more severe phenotype?
Material Type:
Artigo 		Adicionar ao Meu Espaço

Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome does this predict a more severe phenotype?

Amanda Salem Brasil Alexsandra C Malaquias; Luciana Turolla Wanderley; Chong Ae Kim; José Eduardo Krieger; Alexander A. L Jorge; Alexandre C Pereira; Débora Romeo Bertola

Arquivos Brasileiros de Endocrinologia e Metabologia São Paulo v. 54, n. 8, p. 717-722, 2010

São Paulo 2010

Localização: FM - Fac. Medicina    (BCSEP 343 2010 )(Acessar)

5
Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation [Carta] a causal relationship?
Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation [Carta] a causal relationship?
Material Type:
Artigo 		Adicionar ao Meu Espaço

Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation [Carta] a causal relationship?

D. R. Bertola A. C Pereira; A. S Brasil; L Suzuki; C Leite; R Falzoni; U Tannuri; A. B Poplawski; K. M Janowski; C. A Kim; L. M Messiaena

Clinical Genetics v. 81, n. 6, p. 595-597, 2012

Copenhagem 2012

Acesso online. A biblioteca também possui exemplares impressos.

6
Tegumentary manifestations of Noonan and Noonan-related syndromes
Tegumentary manifestations of Noonan and Noonan-related syndromes
Material Type:
Artigo 		Adicionar ao Meu Espaço

Tegumentary manifestations of Noonan and Noonan-related syndromes

Caio Robledo D'Angioli Costa Quaio Tatiana Ferreira de Almeida; Amanda Salem Brasil; Alexandre C Pereira; Alexander A. L Jorge; Alexsandra C Malaquias; Chong Ae Kim; Debora Romeo Bertola

Clinics São Paulo v. 68, n. 8, p. 1079-1083, 2013

São Paulo 2013

Localização: FM - Fac. Medicina    (BCSEP 045 2013 )(Acessar)

7
Determinantes genéticos na síndrome de Noonan e nas síndromes Noonan-like investigação clínica e molecular
Determinantes genéticos na síndrome de Noonan e nas síndromes Noonan-like investigação clínica e molecular
Material Type:
Tese de Doutorado 		Adicionar ao Meu Espaço

Determinantes genéticos na síndrome de Noonan e nas síndromes Noonan-like investigação clínica e molecular

Amanda Salem Brasil Débora Romeo Bertola

2011

Localização: FM - Fac. Medicina    (W4.DB8 SP.USP FM-2 B83de 2011 original )(Acessar)

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Deste Autor:

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

Neste Assunto:

  1. Mutação Genética
  2. Fenótipos (Análise)
  3. Fenótipos
  4. Doenças Hereditárias (Genética)
  5. Sequência Do Dna

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

Buscando em bases de dados remotas. Favor aguardar.