10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly (2018)
- Authors:
- USP affiliated authors: KREPISCHI, ANA CRISTINA VICTORINO - IB ; MORGANTE, ANGELA MARIA VIANNA - IB ; ZATZ, MAYANA - IB
- Unidade: IB
- DOI: 10.1136/jmedgenet-2018-105471
- Subjects: MICROCEFALIA; EXPRESSÃO GÊNICA; DOENÇAS GENÉTICAS; CRESCIMENTO E DESENVOLVIMENTO; PESSOAS COM DEFICIÊNCIA INTELECTUAL
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Título: Journal of Medical Genetics
- ISSN: 0022-2593
- Volume/Número/Paginação/Ano: online, p. 1-5, Oct. 2018
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
OLIVEIRA, Danyllo et al. 10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly. Journal of Medical Genetics, p. 1-5, 2018Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2018-105471. Acesso em: 28 jan. 2026. -
APA
Oliveira, D., Leal, G. F., Sertié, A. L., Caires Jr, L. C., Goulart, E., Musso, C. M., et al. (2018). 10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly. Journal of Medical Genetics, 1-5. doi:10.1136/jmedgenet-2018-105471 -
NLM
Oliveira D, Leal GF, Sertié AL, Caires Jr LC, Goulart E, Musso CM, Oliveira JRM de, Krepischi ACV, Vianna-Morgante AM, Zatz M. 10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly [Internet]. Journal of Medical Genetics. 2018 ; 1-5.[citado 2026 jan. 28 ] Available from: https://doi.org/10.1136/jmedgenet-2018-105471 -
Vancouver
Oliveira D, Leal GF, Sertié AL, Caires Jr LC, Goulart E, Musso CM, Oliveira JRM de, Krepischi ACV, Vianna-Morgante AM, Zatz M. 10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly [Internet]. Journal of Medical Genetics. 2018 ; 1-5.[citado 2026 jan. 28 ] Available from: https://doi.org/10.1136/jmedgenet-2018-105471 - Mapeamento do ponto de quebra de translocação X;4 em uma menina afetada por distrofia muscular Duchenne
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Informações sobre o DOI: 10.1136/jmedgenet-2018-105471 (Fonte: oaDOI API)
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