Has experience in Genetics, focusing on Human and Medical Genetics (Source: Lattes Curriculum)
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Rearrangements involving the X chromosome present peculiarities due to the occurrence of a skewed X-chromosome inactivation. In unbalanced X-autosome translocations, the X-Chromosome Inactivation (XCI) is preferentially skewed towards the derivative chromosome. In rare cases of derivative chromosomes containing X-chromosome sequences, including the X-inactivation center and autosomal sequ…
X-chromosome inactivation (XCI) is a process known as dosage compensation that silences gene expression from one of females' X chromosome through the establishment of epigenetic repressive marks, such as methylation of gene promoters. Although there is a random choice of which of the X chromosomes will be inactivated in females, in cases of unbalanced rearrangements that involve the X chr…
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 …
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CV Lattes
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