graduation at Biomedicina from Universidade Federal de São Paulo (2011), master's at Biologia Estrutural e Funcional from Universidade Federal de São Paulo (2014) and doctorate at Biologia Estrutural e Funcional from Universidade Federal de São Paulo (2018). , acting on the following subjects: array, cnv, microdeleção, desequilíbrio genômico and rearranjo cromossômico. (Source: Lattes Curriculum)
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The genetic architecture of neurodevelopmental disorders (NDD) includes rare, highly penetrant mutations and common variants of smaller effect. De novo, rare loss-of-function (LoF) and missense mutations in evolutionarily constrained genes are the strongest known risk factors for NDD, and these genes are particularly enriched in two main pathways: (1) neuronal communication and (2) regula…
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 …
In her master's thesis, the student Mariana Moyses Oliveira described a female patient with a balanced translocation t(X;9)(q23,q12) that caused AMMECR1 gene disruption in the X chromosome breakpoint, leading to the absence of functional copies of this gene. AMMECR1 gene function has not been described yet, however it is known that, under normal conditions, its expression is ubiquitous an…
Women with balanced X-autosome translocations constitute a heterogeneous group of patients whose most frequent phenotypic alteration is premature ovarian failure. Since the long arm of chromosome X (Xq) is a critical region for ovarian function, it has been postulated that this phenotype might result from either the disruption of genes responsible for ovarian development or from epigeneti…
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Balanced structural rearrangements may induce position effects by modifying specific cis- and trans-acting DNA regulatory element, thus changing the overall chromatin topology and DNA accessibility. Disease-associated balanced chromosomal rearrangements are good paradigms to assess the mechanism underlying these genome reorganizations. Women with balanced X-autosome translocations constit…
| 1 / 1 | Ongoing research grants |
| 4 / 4 | Completed scholarships in Brazil |
| 1 / 1 | Completed scholarships abroad |
| 6 / 6 | All research grants and scholarships |
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CV Lattes
ORCID