- Research Grants
graduate at Medicina from Faculdade de Ciências Médicas e Biológicas PUC-SP (1990), master's at Pediatria from Faculdade de Medicina da Universidade de São Paulo (1999) and ph.d. at Pediatria from Faculdade de Medicina da Universidade de São Paulo (2006). Has experience in Medicine, acting on the following subjects: mucopolissacaridose vi, síndrome de williams, síndrome de noonan, anormalidades múltiplas/genética and fluorescência em hibridização in situ. (Source: Lattes Curriculum)
Healthy aging and longevity are a growing topic of interest. They depend on the complex interplay between nuclear and mitochondrial DNA, the environment and the microbiota, that is, the whole set of bacteria living in the different parts of our body with their whole set of genes. Understanding this complex nature versus nurture balance is one of the greatest challenges in human genetics...
The skeletal dysplasias or osteochondrodysplasias are a heterogeneous group of disorders that affect the formation, growth, and/or development of the skeletal system. Most of these disorders are caused by variants in the exonic region of genes. In the last review of the Nosology and Classification of Genetic Skeletal Disorders from 2015 there were 436 conditions, allocated in 42 groups...
Noonan syndrome (NS) is one of the most frequent genetic diseases of autosomal dominant inheritance, with an estimated incidence between 1:1000 and 1:2500 live births (Nora et al., 1974). Clinical findings are characterized by short stature, facial dimorphisms, short and/or webbed neck, sternal deformity, congenital heart disease, mild mental retardation, cryptorchidism in boys and hema...
(Only some records are available in English at this moment)
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
|Data from Web of Science|