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Genes Medicine & Life Sciences
Comparative Genomic Hybridization Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Mutation Medicine & Life Sciences
Melanoma Medicine & Life Sciences
Germ-Line Mutation Medicine & Life Sciences
Neoplasms Medicine & Life Sciences

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Profiles

No photo of Ana C.V. Krepischi
19982019

Research Output 1998 2019

10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly

Oliveira, D., Leal, G. F., Sertié, A. L., Caires, L. C., Goulart, E., Musso, C. M., De Oliveira, J. R. M., Krepischi, A. C. V., Vianna-Morgante, A. M. & Zatz, M., Aug 1 2019, In : Journal of medical genetics. 56, 8, p. 543-547 5 p.

Research output: Contribution to journalArticle

Sirolimus
Microcephaly
Fibroblasts
PTEN Phosphohydrolase
Megalencephaly
1 Citation (Scopus)

Atypical presentation of a germline APC mutation in a child with supratentorial primitive neuroectodermal tumor

Aguiar, T. F., Barbosa-Teixeira, A. C., Costa, S. S., Ezquina, S., Gimenez, T. M., Novak, E., Cristofani, L. M., Rosenberg, C., Odone Filho, V. & Krepischi, A. C. V., Apr 1 2019, In : Pediatric Blood and Cancer. 66, 4, e27566.

Research output: Contribution to journalLetter

Primitive Neuroectodermal Tumors
Germ-Line Mutation

Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability

de Oliveira, J. F., do Prado, P. F. V., da Costa, S. S., Sforça, M. L., Canateli, C., Ranzani, A. T., Maschietto, M., de Oliveira, P. S. L., Otto, P. A., Klevit, R. E., Krepischi, A. C. V., Rosenberg, C. & Franchini, K. G., Jan 1 2019, In : Nature Chemical Biology. 15, 1, p. 62-70 9 p.

Research output: Contribution to journalArticle

Intellectual Disability
Lysine
Ubiquitin
Mutation
Ubiquitin-Conjugating Enzymes