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1
Phenotype-genotype analysis of 242 individuals with RASopathies 18-year experience of a tertiary center in Brazil
Phenotype-genotype analysis of 242 individuals with RASopathies 18-year experience of a tertiary center in Brazil
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Phenotype-genotype analysis of 242 individuals with RASopathies 18-year experience of a tertiary center in Brazil

Débora R Bertola Matheus A. A Castro; Guilherme Lopes Yamamoto; Rachel Sayuri Honjo; José Ricardo Ceroni; Michele M Buscarilli; Amanda B Freitas; Alexsandra C Malaquias; Alexandre C Pereira; Alexander A. L Jorge; Maria Rita Passos-Bueno; Chong A Kim

American journal of medical genetics. Part C, Seminars in medical genetics Hoboken v. 184, n. 4, p. 896-911, Dec. 2020

Hoboken 2020

Item não circula. Consulte sua biblioteca.(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
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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
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)

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?
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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
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)

6
Impact of growth hormone therapy on adult height in patients with PTPN11 mutations related to Noonan Syndrome
Impact of growth hormone therapy on adult height in patients with PTPN11 mutations related to Noonan Syndrome
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Impact of growth hormone therapy on adult height in patients with PTPN11 mutations related to Noonan Syndrome

Alexsandra C Malaquias Renata M Noronha; Thaiana T. O Souza; Thais K Homma; Mariana F. A Funari; Guilherme L Yamamoto; Fernanda Viana Silva; Michelle B Moraes; Chong Ae Kim; Alexander Augusto de Lima Jorge

Hormone research in paediatrics v. 91, n. 4, p. 252-261, 2019

Basel 2019

Acesso online. A biblioteca também possui exemplares impressos.

7
Further evidence of the importance of RIT1 in Noonan syndrome
Further evidence of the importance of RIT1 in Noonan syndrome
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Further evidence of the importance of RIT1 in Noonan syndrome

Débora Romeo Bertola Guilherme L Yamamoto; Tatiana F Almeida; Michele Buscarilli; Alexander A L Jorge; Alexsandra C Malaquias; Chong A Kim; Vanessa N. V Takahashi; Maria Rita Passos-Bueno; Alexandre C Pereira

American Journal of Medical Genetics Part A Hoboken online, p. 1-6, Aug. 2014

Hoboken 2014

Localização: FM - Fac. Medicina    (BCSEP 171 2014 )(Acessar)

8
Tegumentary manifestations of Noonan and Noonan-related syndromes
Tegumentary manifestations of Noonan and Noonan-related syndromes
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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)

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Deste Autor:

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

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.