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 Cytogenomics, 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…
Structural chromosomal alterations result from breaks and rearrangements in the chromosomes and can alter the quantity of genetic material present in the cells. Examples include complex rearrangements, which involve at least three breakpoints, and ring chromosomes, which are circular DNA molecules. A number of mechanisms have been proposed to explain the formation of chromosomal rearrange…
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…
Cornelia de Lange Syndrome (CdLS) is a rare multisystem genetic disease that has diverse physical, cognitive, and behavioral characteristics. CdLS 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 genome stability. There are several …
(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 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 genome stability. There are several …
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…
The 22q11.2 deletion syndrome is caused by the loss of DNA segments from a region of chromosome 22 that contains LCRs, or segmental duplications, with deletions of 3 Mb and 1.5 Mb of DNA being more frequent. The phenotypic expression of the syndrome is very heterogeneous, and does not seem to be related to the size of the deletions, being very variable even in patients with similar deleti…
(Only some records are available in English at this moment)
X-chromosome inactivation (XCI) is the epigenetic mechanism through which one of the two X chromosomes in females is silenced, allowing for a balanced expression of X-linked genes and dosage compensation between XX and XY individuals. This process is mediated by Xist, a long non-coding RNA that coats the chromosome that will be silenced in cis and recruits several proteins involved in chr…
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 …
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…
The impact of three-dimensional chromatin organization in genetic regulation has been target of many research groups around the world. Chromosome territories are formed from chromatin organization and they are directly related to gene expression and regulation. Balanced chromosomal rearrangements may act through perturbations of the normal contacts between genes and their regulatory eleme…
(Only some records are available in English at this moment)
| 2 / 2 | Ongoing research grants |
| 16 / 3 | Completed research grants |
| 6 / 6 | Ongoing scholarships in Brazil |
| 31 / 24 | Completed scholarships in Brazil |
| 1 / 1 | Ongoing scholarships abroad |
| 5 / 5 | Completed scholarships abroad |
| 61 / 41 | All research grants and scholarships |
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CV Lattes
ORCID