skip to main content
Idioma:
Resultados 1 2 next page
Mostrar Somente
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Estudo do gene TCOF1 em pacientes brasileiros e norte-americanos portadores da síndrome de Treacher Collins revela pontos quentes de mutação
Estudo do gene TCOF1 em pacientes brasileiros e norte-americanos portadores da síndrome de Treacher Collins revela pontos quentes de mutação
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Estudo do gene TCOF1 em pacientes brasileiros e norte-americanos portadores da síndrome de Treacher Collins revela pontos quentes de mutação

A Splendore E. W Jabs; E. P. S Quedas; Maria Rita Passos-Bueno; Congresso Nacional de Genética (46. 2000 Águas de Lindóia, SP)

Genetics and Molecular Biology v. 23, n. 3, suppl., p. 586, sept. 2000

Ribeirão Preto 2000

Item não circula. Consulte sua biblioteca.(Acessar)

2
Sporadic mutations in TCOF1 arise both in maternal and paternal chromosomes and are not related to advanced parental age
Sporadic mutations in TCOF1 arise both in maternal and paternal chromosomes and are not related to advanced parental age
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Sporadic mutations in TCOF1 arise both in maternal and paternal chromosomes and are not related to advanced parental age

Alessandra Splendore E. W Jabs; Maria Rita Passos-Bueno; Annual Meeting of the American Society of Human Genetics (51. 2001 San Diego)

American Journal of Human Genetics Chicago v. 69, n. 4, suppl., p. 614, oct. 2001

Chicago 2001

Item não circula. Consulte sua biblioteca.(Acessar)

3
Screening of TCOF1 in patients from different populations confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]
Screening of TCOF1 in patients from different populations confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]
Material Type:
Artigo 		Adicionar ao Meu Espaço

Screening of TCOF1 in patients from different populations confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]

Alessandra Splendore E. W Jabs; Maria Rita Passos-Bueno

Journal of Medical Genetics v. 39, n. 7, p. 493-495, 2002

London 2002

Item não circula. Consulte sua biblioteca.(Acessar)

4
Screening of TCOF1 in patients from different populations confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]
Screening of TCOF1 in patients from different populations confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]
Material Type:
Artigo 		Adicionar ao Meu Espaço

Screening of TCOF1 in patients from different populations confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important funcional domain in the protein treacle. [Letter]

Alessandra Splendore E. W Jabs; Maria Rita Passos-Bueno

Journal of Medical Genetics v. 39, n. 7, p. 493-495, 2002

London 2002

Item não circula. Consulte sua biblioteca.(Acessar)

5
Genetic and molecular analysis of a large cohort of patients with syndromic and non-syndromic trigonocephaly screening for loss of heterozigosity in 9p and 11q regions
Genetic and molecular analysis of a large cohort of patients with syndromic and non-syndromic trigonocephaly screening for loss of heterozigosity in 9p and 11q regions
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Genetic and molecular analysis of a large cohort of patients with syndromic and non-syndromic trigonocephaly screening for loss of heterozigosity in 9p and 11q regions

Fernanda Sarquis Jehee D Johnson; Kikue Terada Abe; L Alonso; N Alonso; C Kim; D Cavalcante; S. A Wall; S Boyd; E Jabs; A. O Wikie; Maria Rita Passos-Bueno; Annual Meeting of the American Society of Human Genetics (54. 2004 Toronto)

Abstracts Toronto, 2004

Toronto 2004

Item não circula. Consulte sua biblioteca.(Acessar)

6
Triagem de microdeleções em 9p22-24 e 11q23-24 em pacientes com trigonocefalia
Triagem de microdeleções em 9p22-24 e 11q23-24 em pacientes com trigonocefalia
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Triagem de microdeleções em 9p22-24 e 11q23-24 em pacientes com trigonocefalia

Fernanda Sarquis Jehee Johnson David; Luis Alonso; Kikue Terada Abe; Nivaldo Alonso; Hamilton Matushita; Kim Chong; Sérgio Cavalheiro; Denise Lucena Cavalcante; S. A Wall; Andrew Wilkie; Simeon Boyd; Ethylin Wang Jabs; Maria Rita Passos-Bueno; Congresso Brasileiro de Genética (49. 2003 Águas de Lindóia, SP)

Resumo Águas de Lindóia, 2003

Águas de Lindóia 2003

Item não circula. Consulte sua biblioteca.(Acessar)

7
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome

Christa E. Flück Toshihro Tajima; Amit V Pandey; Wiebke Arlt; Kouji Okuhara; Charles F Verge; Ethylin Wang Jabs; Berenice B Mendonça; Kenji Fujieda; Walter L Miller

Nature Genetics New York v. 36, p. 228-230, 2004

New York 2004

Localização: FM - Fac. Medicina    (BCSEP 2004 16 )(Acessar)

8
Novel Molecular Pathways Elicited by Mutant FGFR2 May Account for Brain Abnormalities in Apert Syndrome
Novel Molecular Pathways Elicited by Mutant FGFR2 May Account for Brain Abnormalities in Apert Syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Novel Molecular Pathways Elicited by Mutant FGFR2 May Account for Brain Abnormalities in Apert Syndrome

Erika Yeh Roberto D Fanganiello; Daniele Y Sunaga; Xueyan Zhou; Gregory Holmes; Katia M Rocha; Nivaldo Alonso; Hamilton Matushita; Yingli Wang; Ethylin W Jabs; Maria Rita Passos-Bueno

Plos One San Francisco v. 8, n. 4, 7 p., art. e60439, 2013

San Francisco 2013

Localização: FM - Fac. Medicina    (BECEP 034 2013 )(Acessar)

9
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome

Christa E. Flück Toshihro Tajima; Amit V Pandey; Wiebke Arlt; Kouji Okuhara; Charles F Verge; Ethylin Wang Jabs; Berenice B Mendonça; Kenji Fujieda; Walter L Miller

Nature Genetics New York v. 36, p. 228-230, 2004

New York 2004

Localização: FM - Fac. Medicina    (BCSEP 2004 16 )(Acessar)

10
Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients
Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients
Material Type:
Artigo 		Adicionar ao Meu Espaço

Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients

Fernanda Sarquis Jehee Luís Garcia Alonso; Denise Pontes Cavalcanti; Chong A Kim; Steven A Wall; F. C. S Plast; John B Mulliken; Miao Sun; Ethylin Wang Jabs; Simeon A Boyadjiev; Andrew O. M Wilkie; Maria Rita Passos-Bueno

Cleft Palate-Craniofacial Journal v. 43, n. 2, p. 148-151, 2006

Chapel Hill 2006

Item não circula. Consulte sua biblioteca.(Acessar)

Resultados 1 2 next page

Personalize Seus Resultados

  1. Editar

Refine Search Results

Mostrar Somente

  1. Disponível na Biblioteca (4)

Refinar Meus Resultados

Tipo de Recurso 

  1. Artigos  (13)
  2. Livros  (1)
  3. Mais opções open sub menu

Data de Publicação 

De até
Refinar
  1. Antes de2000  (1)
  2. 2000Até2000  (1)
  3. 2001Até2001  (1)
  4. 2002Até2003  (3)
  5. Após 2003  (8)
  6. Mais opções open sub menu

Idioma 

  1. Inglês  (11)
  2. Português  (2)
  3. Alemão  (1)
  4. Mais opções open sub menu

Novas Pesquisas Sugeridas

Ignorar minha busca e procurar por tudo

Deste Autor:

  1. Jabs, E
  2. Passos-Bueno, M
  3. Jehee, F
  4. Wall, S
  5. Alonso, L

Neste Assunto:

  1. Malformações
  2. Mutação Genética
  3. Craniossinostose
  4. Anormalidades Craniofaciais
  5. Genética Médica

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

Buscando em bases de dados remotas. Favor aguardar.