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Genes Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Comparative Genomic Hybridization Medicine & Life Sciences
Mutation Medicine & Life Sciences
Phenotype 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

A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case

Samogy-Costa, C. I., Varella-Branco, E., Monfardini, F., Ferraz, H., Fock, R. A., Barbosa, R. H. A., Pessoa, A. L. S., Perez, A. B. A., Lourenço, N., Vibranovski, M., Krepischi, A. C. V., Rosenberg, C. & Passos-Bueno, M. R., Jul 18 2019, In : Journal of neurodevelopmental disorders. 11, 1, 1 p.

Research output: Contribution to journalArticle

Open Access
Genetic Association Studies
Intellectual Disability
Comorbidity
Muscle Hypotonia
Lymphedema
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