CV Lattes
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Universidade Estadual de Campinas (UNICAMP). Faculdade de Ciências Médicas (FCM) (Institutional affiliation from the last research proposal) Birthplace: Brazil
graduation at Medicina from Universidade Estadual de Campinas (1990), master's at Genetics from Universidade Estadual de Campinas (1995) and doctorate at Genetics from Universidade Estadual de Campinas (1997). He is currently full professor at Universidade Estadual de Campinas. Has experience in Genetics, acting on the following subjects: genética clínica, citogenética, anomalias craniofaciais, genética molecular and pediatria. (Source: Lattes Curriculum)
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Neuropsychomotor developmental delay (NDD) and intellectual disability (ID) are often associated with complex and rare phenotypes, especially in populations in which consanguineous unions are frequent. Whole exome sequencing (WES), used in the vast majority of studies of inbreeding, has been shown to be effective in identifying novel disease genes and elucidating the genetic mechanisms of…
The implementation of databases is a worldwide strategy for epidemiological recognition and its impact - individual and collective - on prevention, diagnosis and treatment. The Brazilian Database on Craniofacial Anomalies (BDCA) collects sociodemographic and genetic information and performs the clinical follow-up of craniofacial anomalies, with major contribution of cases of oral clefts. …
The World Health Organization (WHO) acknowledges that cleft lips and (or) palates (CL+/-P) require investment in public policies, given the high prevalence (about 1:600-1000 newborns), the presence of comorbidities and the prolonged treatment (WHO, 2002). WHO also pointed the importance of genetics evaluation and counseling (WHO, 2002). Most cleft cases are non-syndromic and have multifac…
(Only some records are available in English at this moment)
The objective of this project is to identify variants in associated genes and new genes related to Otomandibular Defects (OMD). This is a multicenter study, part of the project entitled "Clinically Directed Genomic Investigation through the Brazilian Craniofacial Anomalies Database (BBAC): a model for rare diseases" supported by FINEP. It involves participants registered in the services t…
The Syndrome 22q11.2 Deletion Syndrome (22q11.2DS) is the most common chromosomal microdeletion in humans and has wide clinical variability. Its association with idiopathic neonatal hypocalcaemia is related with an imperfection in the development of the third and fourth branchial arcs, leading to hypoplasia or aplasia of the parathyroid and harming the production of the PTH. Immunodeficie…
Balanced chromosomal rearrangements (BCR) occur in approximately 1 in 2000 newborns. The array genomic hybridization (aGH) techniques detected genomic imbalances related or not to chromosome breakpoints in 30 to 50% of BCR cases with abnormal phenotype. Recently, insertions or deletions of few base pairs at breakpoints were identified by Next Generation Sequencing (NGS). The aim of this …
Introduction: The orofacial clefts comprise a complex and heterogeneous group, with a worldwide prevalence of 1:600-1000 newborns. Among the various etiologies, the influence of teratogenic agents in their occurrence has been documented. However, information about this etiology, at the population level and in this specific group of congenital defects, is not characterized in Brazil. With …
| 12 / 7 | Completed research grants |
| 1 / 1 | Ongoing scholarships in Brazil |
| 13 / 3 | Completed scholarships in Brazil |
| 26 / 11 | All research grants and scholarships |
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