I have a degree in Biomedical Sciences from UNIFESP; in my Ph.D.'s degree project on a Brazilian 22q11.2 deletion syndrome cohort. We intend to understand better the genetic factors involved in the clinical heterogeneity of 22q11.2DS. I'm a member of the Media Commission of the Graduate Program of the Department of Morphology and Genetics of the Escola Paulista de Medicina of the Universidade Federal de São Paulo, making scientific dissemination posts every week during the year 2018 until the present date. I also contribute to the organization of the first and second São Paulo Meeting of Patients and Family - DiGeorge Syndrome. (Source: Lattes Curriculum)
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The 22q11.2 Deletion Syndrome (22q11.2DS) results from the loss of chromosome 22 DNA segments and is the most frequent of microdeletion syndromes. The 22q11.2 region involved in the deletion is quite complex and contains highly repetitive Low Copy Repeats (LCR), DNA sequences that make the region susceptible to recurrent genomic rearrangements. Our studies, as well as others in the litera…
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 …
Several studies have associated specific genes to phenotypes observed in the 22q11.2 deletion syndrome (22q11.2DS), yet much of the etiology for its clinical heterogeneity remains unknown. In addition to genes within the deleted region, several additional genetic factors have been associated with the penetrance of clinical signs in 22q11.2DS. Taking into account that the relationship betw…
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