CV Lattes
Universidade de São Paulo (USP). Faculdade de Medicina (FM) (Institutional affiliation from the last research proposal) Birthplace: Brazil
Graduated at Medicina from Universidade de Brasília (1978), master's at Paediatrics from Universidade de São Paulo (1991) and ph.d. at Paediatrics from Universidade de São Paulo (1996). Has experience in Medicine, acting on the following subjects: clinical genetics, multiple malformations, mental delay, Williams-Beurens syndrome, Noonan and Noonan like syndromes, Cornelia de Lange syndrome, Epidermoyisis Bullosa,mucopolysaccharidosis and Skeletal dysplasias. Criated Residency Program in Medical Genetics at 2009, in Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo. (Source: Lattes Curriculum)
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The investigation of cytogenomic and molecular alterations through refined and powerful research methodologies has been allowing the characterization of genetic variants at a higher resolution, enabling a better understanding of their mechanisms of formation and their impact on the phenotype. The current project proposes the use of innovative approaches, including several types of next-ge…
The thymus continues to be a neglected organ, both in research and in clinical practice. Compared to bone marrow, in which intrinsic diseases and deleterious effects of drugs have been well explored, thymus has not received equivalent attention. This project continues a previous one named “Early-onset autoimmunity” (FAPESP grant 2008/58234-4), in which one of the subprojects dealt with fu…
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 …
Williams-Beuren syndrome (WBS) is a genetic disease caused by a microdeletion in the 7q11.23 region. It is characterized by congenital heart disease, mainly supravalvular aortic stenosis, mental retardation, mild short stature, facial dysmorphisms and variable abnormalities in different systems. To report the clinical findings of 55 Brazilian patients confirmed by Multiplex Ligation-depen…
(Only some records are available in English at this moment)
Chromossomal aberrations are first suspected etiology in patients with multiple congenital anomalies, neuropsychomotor retardation and/or mental retardation. It appears that in some patients, this phenotype is associated with pigmentary changes such as skin blemishes. However, not always the result of the karyotype in peripheral blood for these patients reveals chromosomal abnormalities. …
The genomic imbalances are the most common cause of miscarriage, anomalies congenital and developmental delay, however the etiology of these imbalances are not well understood, making difficult the counseling genetics and the treatment in most cases. In fact, with the improvement of new cytogenomics diagnostic techniques, such as the MLPA (Multiplex Ligation-dependent Probe Amplification)…
| 1 / 1 | Ongoing grants |
| 13 / 7 | Completed research grants |
| 3 / 1 | Completed scholarships in Brazil |
| 1 / 1 | Completed scholarships abroad |
| 18 / 10 | All research grants and scholarships |
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