Graduated in Biological Sciences Medical Modality (1978) by the Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP). Masters (1982) and Ph.D. (1988) in Biological Sciences (Biology-Genetics) from the University of São Paulo (USP). Associate Professor (2008) at the Federal University of São Paulo (UNIFESP). Works in Human and Medical Genetics, especially in the area of #8203;#8203;Cytogenomics and DNA sequencing, Ad hoc reviewer CNPq, FAPESP and Human Genetics, journal American Journal of Medical Genetics, BMC Medical Genetics, Clinical Genetics, Clinics, Fertility and Sterility, Cytogenetics and Genome Research, GENE, Pediatrics International, Molecular Cytogenetics, among others. Member of the Brazilian Society of Genetics, the Brazilian Society of Medical Genetics, American Society of Human Genetics and European Society of Human Genetics. (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 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…
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 …
The development of molecular cytogenetic techniques, among them FISH and array methodologies, are permitting the identification and characterization of the different types of chromosomal alterations with a higher resolution. In addition to the molecular cytogenetic methods, PCR and sequencing techniques have permitted DNA analysis of the regions involved in these rearrangements, increasin…
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…
Syndromes resulting from copy number variations (CNVs) are characterized by the presence of microdeletions or microduplications of genomic segments. They are detected by cytogenomic techniques, such as MLPA and genomic array, which verify the presence of genomic imbalances, associated with different syndromes. Some individuals, despite having the main clinical signs of syndromes related t…
(Only some records are available in English at this moment)
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 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 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…
(Only some records are available in English at this moment)
Cornelia de Lange Syndrome (CdLS) is a rare multisystem genetic disease that has diverse physical, cognitive, and behavioral characteristics. CdLS is considered a cohesinopathy since is caused by genetic variations in genes that affect the regulation of cohesin, which is a protein complex that has regulatory factors for the cell cycle, being essential for cell survival and maintenance of …
Structural chromosomal alterations result from breaks and rearrangements in the chromosomes and can alter the quantity of genetic material present in the cells, damage genes or 're-shuffle' (regulatory) genomic elements. Examples include complex rearrangements, which involve at least three breakpoints, and ring chromosomes, which are circular DNA molecules. A number of mechanisms, which c…
Cornelia de Lange Syndrome (CdLS) is a rare disorder (RD) that affects 1 in 45,000 to 1 in 62,000 live births and has several physical, cognitive, and behavioral phenotypes. Although CdLS patients frequently have a typical facial phenotype that can help during the search for a diagnostic, some of them remain molecularly undiagnosed for many years due to factors such as mosaic mutations or…
(Only some records are available in English at this moment)
| 2 / 2 | Ongoing grants |
| 16 / 3 | Completed research grants |
| 8 / 8 | Ongoing scholarships in Brazil |
| 35 / 28 | Completed scholarships in Brazil |
| 9 / 9 | Completed scholarships abroad |
| 70 / 50 | All research grants and scholarships |
| Associated processes | |
CV Lattes
ORCID