Malú Zamariolli de Souza in research grants and scholarships supported by FAPESP.
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The 22q11.2 deletion syndrome is characterized by great clinical heterogeneity among patients, and this heterogeneity does not seem to be related to the classes of more frequent deletion sizes (3 Mb, 1.5 Mb and atypical deletions). Thus, although the dose-sensitive genes mapped in the deleted region are important candidates for the phenotype, it has been suggested that more complex molecu…
The Oculo-Auriculo-Vertebral Spectrum (OAVS) comprises a set of phenotypically heterogeneous diseases that mainly involve derivatives of the first and second pharyngeal arches. Thus the most relevant phenotypes are craniofacial anomalies such as hemifacial microsomia, microtia, preauricular tags, microphthalmia as well as vertebral changes. The etiology of this spectrum is not well unders…
A great challenge for cytogeneticists is to understand the genetic basis of the phenotypicvariations and its implication for human diseases. Chromosomal rearrangements are anefficient 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 tr…
The 22q11.2 deletion syndrome is characterized by great clinical heterogeneity among patients and congenital heart disease is one of the most relevant phenotypes. The etiology of this variability is still poorly understood but complex genetic mechanisms seem to be involved. In addition to variants in the non-deleted 22q11.2 locus, genetic modifiers in other regions of the genome may have …
| 4 / 3 | Completed scholarships in Brazil |
| 1 / 1 | Completed scholarships abroad |
| 5 / 4 | All Scholarships |
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