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Refinado por: assunto: Mutação Genética remover
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1
The Common P450 Oxidoreductase Variant A503V Is Not a Modifier Gene for 21-Hydroxylase Deficiency
The Common P450 Oxidoreductase Variant A503V Is Not a Modifier Gene for 21-Hydroxylase Deficiency
Material Type:
Artigo 		Adicionar ao Meu Espaço

The Common P450 Oxidoreductase Variant A503V Is Not a Modifier Gene for 21-Hydroxylase Deficiency

Larissa G. Gomes Ningwu Huang; Berenice B Mendonça; Tania A. S. S Bachega; Walter L Miller

Journal of Clinical Endocrinology and Metabolism Philadelphia v. 93, n. 7, p. 2913-2916, 2008

Philadelphia 2008

Acesso online. A biblioteca também possui exemplares impressos.

2
The Common P450 Oxidoreductase Variant A503V Is Not a Modifier Gene for 21-Hydroxylase Deficiency
The Common P450 Oxidoreductase Variant A503V Is Not a Modifier Gene for 21-Hydroxylase Deficiency
Material Type:
Artigo 		Adicionar ao Meu Espaço

The Common P450 Oxidoreductase Variant A503V Is Not a Modifier Gene for 21-Hydroxylase Deficiency

Larissa G. Gomes Ningwu Huang; Berenice B Mendonça; Tania A. S. S Bachega; Walter L Miller

Journal of Clinical Endocrinology and Metabolism Philadelphia v. 93, n. 7, p. 2913-2916, 2008

Philadelphia 2008

Acesso online. A biblioteca também possui exemplares impressos.

3
Extra-adrenal 21 hydroxylation by CYP2C19 and CYP3A4 Effect on 21-hydroxylase deficiency phenotype
Extra-adrenal 21 hydroxylation by CYP2C19 and CYP3A4 Effect on 21-hydroxylase deficiency phenotype
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Extra-adrenal 21 hydroxylation by CYP2C19 and CYP3A4 Effect on 21-hydroxylase deficiency phenotype

L. G. Gomes N Huang; V Agrawal; T. A. S. S Bachega; W. I Miller; B. B Mendonça; International Congress of Endocrinology 2008 (13. Rio de Janeiro)

Arquivos Brasileiros de Endocrinologia e Metabologia São Paulo v. 52, supl. 6, parte II, p. S1042, res. PO-0724, 2008

São Paulo 2008

Localização: FM - Fac. Medicina    (BCSEP 382 2008 )(Acessar)

4
Progranulin Mutations as Risk Factors for Alzheimer Disease
Progranulin Mutations as Risk Factors for Alzheimer Disease
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Progranulin Mutations as Risk Factors for Alzheimer Disease

David C. Perry Manja Lehmann; Jennifer S Yokoyama; Anna Karydas; Jason JiYong Lee; Giovanni Coppola; Lea T Grinberg; Dan Geschwind; William W Seeley; Bruce L Miller; Howard Rosen; Gil Rabinovici

JAMA Neurology Chicago v. 70, n. 6, p. 774-778, 2013

Chicago 2013

Acesso online. A biblioteca também possui exemplares impressos.

5
TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia
TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia
Material Type:
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TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia

Marka van Blitterswijk Bianca Mullen; Alexandra M Nicholson; Kevin F Bieniek; Michael G Heckman; Matthew C Baker; Mariely DeJesus‑Hernandez; NiCole A Finch; Patricia H Brown; Melissa E Murray; Ging‑Yuek R Hsiung; Heather Stewart; Anna M Karydas; Elizabeth Finger; Andrew Kertesz; Eileen H Bigio; Sandra Weintraub; Marsel Mesulam; Kimmo J Hatanpaa; Charles L White III; Michael J Strong; Thomas G Beach; Zbigniew K Wszolek; Carol Lippa; Richard Caselli; Leonard Petrucelli; Keith A Josephs; Joseph E Parisi; David S Knopman; Ronald C Petersen; Ian R Mackenzie; William W Seeley; Lea T Grinberg; Bruce L Miller; Kevin B Boylan; Neill R Graff‑Radford; Bradley F Boeve; Dennis W Dickson; Rosa Rademakers

Acta Neuropathologica Berlin v. 127, n. 3, p. 397-406, 2014

Berlin 2014

Localização: FM - Fac. Medicina    (BCSEP 090 2014 )(Acessar)

6
Genetic modifiers in carriers of repeat expansions in the C90RF72 gene
Genetic modifiers in carriers of repeat expansions in the C90RF72 gene
Material Type:
Artigo 		Adicionar ao Meu Espaço

Genetic modifiers in carriers of repeat expansions in the C90RF72 gene

Marka van Blitterswijk Bianca Mullen; Aleksandra Wojtas; Michael G Heckman; Nancy N Diedhi; Matthew C Baker; Mariely De Jesus-Hernandez; Patricia H Brown; Melissa E Murray; Ging-Yuek R Hsiung; Heather Stewart; Anna M Karydas; Elizabeth Finger; Andrew Kertesz; Eileen H Bigio; Sandra Weintraub; Marsel Mesulam; Kimmo J Hatanpaa; Charles L White III; Manuela Neumann; Michael J Strong; Thomas G Beach; Zbigniew Wszolek; Carol Lippa; Richard Caselli; Leonard Petrucekki; Keith Josephs; Joseph Parisi; David Knopman; Ronald Peterson; Ian Mackenzie; William Seeley; Lea Grinberg; Bruce Miller; Kevin Boylan; Neil Graff-Radford; Bradley Boeve; Dennis Dickson; Rosa Rademakers

Molecular Neurodegeneration London v. 9, p. 38, 2014

London 2014

Localização: FM - Fac. Medicina    (BCSEP 574 2014 )(Acessar)

7
Genomic and molecular landscape of DNA damage repair deficiency across the cancer genome atlas
Genomic and molecular landscape of DNA damage repair deficiency across the cancer genome atlas
Material Type:
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Genomic and molecular landscape of DNA damage repair deficiency across the cancer genome atlas

Theo A. Knijnenburg Linghua Wang; Michael T Zimmermann; Nyasha Chambwe; Galen F Gao; Andrew D Cherniack; Huihui Fan; Hui Shen; Gregory P Way; Casey S Greene; Yuexin Liu; Rehan Akbani; Bin Feng; Lawrence A Donehower; Chase Miller; Yang Shen; Mostafa Karimi; Haoran Chen; Pora Kim; Peilin Jia; Eve Shinbrot; Shaojun Zhang; Jianfang Liu; Hai Hu; Matthew H Bailey; Christina Yau; Denise M Wolf; Zhongming Zhao; John N Weinstein; Lei Li; Li Ding; Gordon B Mills; Peter W Laird; David A Wheeler; Ilya Shmulevich; Raymond J Monnat Junior; Yonghong Xiao; Chen Wang; Houtan Noushmehr; Carlos Gilberto Carlotti Júnior; José Sebastião dos Santos; Rafael Kemp; Ajith Kumar Sankarankuty; Daniela Pretti da Cunha Tirapelli; The Cancer Genome Atlas Research Network

Cell Reports Cambridge v. 23, n. 1, p. 239-254, 2018

Cambridge 2018

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 2938364 Estantes Deslizantes )(Acessar)

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Deste Autor:

  1. Miller, B
  2. Mendonça, B
  3. Bachega, T
  4. Karydas, A
  5. Gomes, L

Neste Assunto:

  1. Polimorfismo
  2. Genótipos
  3. Fenótipos
  4. Hidroxilase (Deficiência)
  5. Enzimas Oxirredutoras (Vacinação)

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

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