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 do periódico: Journal of Medical Genetics
- ISSN: 0022-2593
- Volume/Número/Paginação/Ano: online, p. 1-5, Oct. 2018
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
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: 19 abr. 2024. -
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 2024 abr. 19 ] 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 2024 abr. 19 ] Available from: https://doi.org/10.1136/jmedgenet-2018-105471 - X-autosome translocations in females with X-linked recessive diseases
- Brief clinical report: Duchenne muscular dystrophy in a girl with a XXX/XX/X chromosomal constitution
- Mapeamento do ponto de quebra de translocação X;4 em uma menina afetada por distrofia muscular Duchenne
- Chromosome studies in males affected by duchenne or becker muscular dystrophy
- Epigenetic mechanisms in liver tumors: gene expression analysis of epigenetic machinery in hepatoblastomas
- Carcinoma ex-pleomorphic adenoma from recurrence of the pleomorphic adenoma show chomothripsis phenomenom by array comparative genomic hybridization
- Squamous cell carcinoma ex-pleomorphic adenoma show multiple somatic copy number alterations
- Genomic profile of pleomorphic adenoma by array comparative genomic hybridization
- Genomic profile of primary and secondary metastasizing pleomorphic adenoma
- Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients
Informações sobre o DOI: 10.1136/jmedgenet-2018-105471 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
