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1
Lipoid proteinosis Rare case confirmed by ECM1 mutation detection
Lipoid proteinosis Rare case confirmed by ECM1 mutation detection
Material Type:
Artigo 		Adicionar ao Meu Espaço

Lipoid proteinosis Rare case confirmed by ECM1 mutation detection

Tatiana F. Almeida Diogo C Soares; Caio R Quaio; Rachel S Honjo; Debora R Bertola; John A McGrath; Chong A Kim

International Journal of Pediatric Otorhinolaryngology Amsterdan v. 78, p. 2314-2315, 2014

Amsterdan 2014

Acesso online. A biblioteca também possui exemplares impressos.

2
Further evidence that the T73I PTPNII gene mutation is associated with a myeloproliferative disorder in noonan syndrome
Further evidence that the T73I PTPNII gene mutation is associated with a myeloproliferative disorder in noonan syndrome
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Further evidence that the T73I PTPNII gene mutation is associated with a myeloproliferative disorder in noonan syndrome

D. R Bertola A. C Pereira; J. D. A Carneiro; C. A Kim; American college of medical genetics (2004 Florida); Annual clinical genetics meeting (Florida 2004)

Resumos Florida, 2004

Florida 2004

Localização: FM - Fac. Medicina    (FM BCSEP 340 2004 )(Acessar)

3
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.

4
Richieri-Costa-Pereira syndrome expanding its phenotypicand genotypic spectrum
Richieri-Costa-Pereira syndrome expanding its phenotypicand genotypic spectrum
Material Type:
Artigo 		Adicionar ao Meu Espaço

Richieri-Costa-Pereira syndrome expanding its phenotypicand genotypic spectrum

D R Bertola G Hsia; L Alvizi; A Gardham; E. L Wakeling; G. L Yamamoto; R. S Honjo; L. A. N Oliveira; R. C. Di Francesco; B A Perez; C A Kim; Maria Rita Passos-Bueno

Clinical Genetics Hoboken online, p. 1-12, Feb. 2018

Hoboken 2018

Localização: FM - Fac. Medicina    (OPI 26383 2018 )(Acessar)

5
The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual broadening the clinical phenotype
The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual broadening the clinical phenotype
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The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual broadening the clinical phenotype

Débora Bertola Guilherme Yamamoto; Michelle Buscarilli; Alexander Jorge; Maria Rita Passos-Bueno; Chong Ae Kim

American Journal of Medical Genetics. Part A Hoboken on-line, p. 524-828, v. 173, n. 3, Mar. 2017

Hoboken 2017

Item não circula. Consulte sua biblioteca.(Acessar)

6
Cockayne syndrome type A novel mutations in eight typical patients
Cockayne syndrome type A novel mutations in eight typical patients
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Artigo 		Adicionar ao Meu Espaço

Cockayne syndrome type A novel mutations in eight typical patients

Debora R. Bertola Henian Cao; Lilian M. J Albano; Fernando Kok; Maria Joaquina Marques-Dias; Chong A Kim; Robert A Hegele

Journal of human genetics Tokyo v.51, n.8, p.701-705, 2006

Tokyo 2006

Localização: FM - Fac. Medicina    (FM BCSEP 155 2006 )(Acessar)

7
Cockayne syndrome type A novel mutations in eight typical patients
Cockayne syndrome type A novel mutations in eight typical patients
Material Type:
Artigo 		Adicionar ao Meu Espaço

Cockayne syndrome type A novel mutations in eight typical patients

Debora R. Bertola Henian Cao; Lilian M. J Albano; Fernando Kok; Maria Joaquina Marques-Dias; Chong A Kim; Robert A Hegele

Journal of human genetics Tokyo v.51, n.8, p.701-705, 2006

Tokyo 2006

Localização: FM - Fac. Medicina    (FM BCSEP 155 2006 )(Acessar)

8
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)

9
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)

10
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)

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Deste Autor:

  1. Kim, C
  2. Bertola, D
  3. Yamamoto, G
  4. Passos-Bueno, M
  5. Pereira, A

Neste Assunto:

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

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

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