Fingerprint The fingerprint is based on mining the text of the scientific documents related to the associated persons. Based on that an index of weighted terms is created, which defines the key subjects of research unit

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

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Profiles

No photo of Ana C.V. Krepischi
19982018

Research Output 1998 2018

Deletion of RUNX1 exons 1 and 2 associated with familial platelet disorder with propensity to acute myeloid leukemia

Cavalcante de Andrade Silva, M., Krepischi, A. C. V., Kulikowski, L. D., Zanardo, E. A., Nardinelli, L., Leal, A. M., Costa, S. S., Muto, N. H., Rocha, V. & Velloso, E. D. R. P., Apr 1 2018, In : Cancer Genetics. 222-223, p. 32-37 6 p.

Research output: Contribution to journalArticle

Acute Myeloid Leukemia
Exons
Blood Platelets
Platelet Count
Siblings

Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion

dos Santos, A., Campagnari, F., Krepischi, A. C. V., Ribeiro Câmara, M. D. L., de Arruda Brasil, R. D. C. E., Vieira, L., Vianna-Morgante, A. M., Otto, P. A., Pearson, P. L. & Rosenberg, C., Sep 1 2018, In : Chromosome Research. 26, 3, p. 191-198 8 p.

Research output: Contribution to journalArticle

Telomere
Single Nucleotide Polymorphism
Clone Cells
Mosaicism
Centromere

Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes

Correa, F. A., Jorge, A. A. L., Nakaguma, M., Canton, A. P. M., Costa, S. S., Funari, M. F., Lerario, A. M., Franca, M. M., Carvalho, L. R., Krepischi, A. C. V., Arnhold, I. J. P., Rosenberg, C. & Mendonca, B. B., Mar 1 2018, In : Clinical Endocrinology. 88, 3, p. 425-431 7 p.

Research output: Contribution to journalArticle

Hypopituitarism
Phenotype
Intellectual Disability
Chromosomes
Exome