Vera Lúcia Gil da Silva Lopes

• Abstract

  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. …

  Whole Exome Sequencing in oral clefts selected from the Brazilian Database on Craniofacial Anomalies, AP.R

• Abstract

  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…

  Consolidation of a multicentric strategy in genetics for database and diagnostic on orofacial clefts, AP.PP.SUS

• Abstract

  Cleft lip and palate (CLP) occurs in 1:600 to 1000 births and most common form is isolated. The 22q11.2 Deletion Syndrome (22q11.2 Del S.) has a prevalence of 1:2.000 to 7.000 births and it is characterized by multiple anomalies, including cardiac anomalies and oral clefts. The present study aims to investigate: 1) association between 243 tagging SNPs in 38 candidate genes to isolated CLP…

  Investigative approach in cleft lip and palate and congenital cadiopathy related to 22q11.2 deletion syndrome using open array and aGH techniques, AP.R

(Only some records are available in English at this moment)

• Abstract

  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…

  Prevalence of neonatal idiopathic hypocalcaemia and recurrent infections/immunodeficiency among individuals with suspicious of 22q11.2 deletion syndrome, BP.IC

• Abstract

  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 …

  Genomic study of apparently balanced chromosomal rearrangements in individuals with abnormal phenotype, BP.PD

• Abstract

  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 …

  Potentially teratogenic identification in Brazilian clinical data base and family typical orofacial clefts, BP.IC