CV Lattes
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Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. Escola Paulista de Medicina (EPM) (Institutional affiliation from the last research proposal) Birthplace: Brazil
bachelor's at Ciências Biológicas from Centro Universitário Amparense (2008). Has experience in Genetics, focusing on Human and Medical Genetics (Source: Lattes Curriculum)
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A great challenge for cytogeneticists is to understand the genetic basis of the phenotypic variations and its implication for human diseases. Chromosomal rearrangements are an efficient tool for the investigation of the consequences of deletion, duplication or disruption of genes. This project contains three subprojects as follows: Subproject 1: Analysis of women with balanced X-autosome …
The 22q11.2 deletion syndrome is caused by loss of chromosome 22 segments delimited by low copy repeats (LCRs), being more frequent deletions of 3 and 1.5 Mb. There is phenotypic heterogeneity in patients with deletions of similar extensions, as well as similar phenotypes in patients with different sized deletions in the 22q11.2 region. Thus, although genes mapped in the deleted region pr…
The 22q11.2 deletion syndrome (22q11.2DS; DiGeorge/velo-cardio-facial syndrome) is the most common genomic disorder in humans, and the patients harbors recurrent deletions of 3 and 1,5 Mb. However, there is a high phenotypic heterogeneity, even between members of the same family or monozygotic twins. Approximately 65% of affected individuals have congenital heart disease (CHD), affecting …
| 3 / 2 | Completed scholarships in Brazil |
| 1 / 1 | Completed scholarships abroad |
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