EVELIN ALINE ZANARDO
Projetos de Pesquisa
Unidades Organizacionais
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina
8 resultados
Resultados de Busca
Agora exibindo 1 - 8 de 8
conferenceObject Molecular autopsy reveals clues for genetic basis of congenital valve defect(2019) MADIA, F. A. R.; DIAS, A. T.; ZANARDO, E. A.; DAMASCENO, J. G.; NASCIMENTO, A. M.; COSTA, T. V. M. M.; CHEHIMI, S. N.; NOVO-FILHO, G. M.; MONTENEGRO, M. M.; OLIVEIRA, Y. G.; FREITAS, A. B.; VIEIRA, L. L.; SCHULTZ, R.; GONCALVES, F. T.; FRIDMAN, C.; KIM, C. A.; KULIKOWSKI, L. D.- Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines(2019) GASPARINI, Yanca; MONTENEGRO, Marilia M.; NOVO-FILHO, Gil M.; CERONI, Jose R. M.; HONJO, Rachel S.; ZANARDO, Evelin A.; DIAS, Alexandre T.; NASCIMENTO, Amom M.; COSTA, Thais V. M. M.; MADIA, Fabricia A.; CHEHIMI, Samar N.; DAMASCENO, Jullian G.; KIM, Chong A.; KULIKOWSKI, Leslie D.Mosaic trisomy 12 is a rare anomaly, and only 9 cases of live births with this condition have been reported in the literature. The clinical phenotype is variable, including neuropsychomotor developmental delay, congenital heart disease, microcephaly, cutaneous spots, facial asymmetry, prominent ears, hypotonia, retinopathy, and sensorineural hearing loss. A 2-year-old female presented with neuropsychomotor developmental delay, prominent forehead, dolichocephaly, patchy skin pigmentation, and unexpected over-growth at birth. Cytogenetic analysis of her peripheral blood showed normal results, suggesting the presence of a chromosomal alteration in other tissues. Further studies using G-banding and FISH performed on fibroblasts from both hyper-and hypopigmented regions identified a 47, XX,+12/46, XX karyo-type. To the best of our knowledge, no patients with mosaic trisomy 12 associated with overgrowth have been reported to date. Congenital overgrowth and neonatal overgrowth have been frequently linked to Pallister-Killian syndrome (PKS; OMIM 601803). This case suggests the possibility of an association of genes present in the 12p region with fetal overgrowth, considering that chromosomal duplications could lead to an increase in the production of aberrant transcripts and disturbing gene dosage effects. This case highlights the importance of cytogenetic analysis in different tissues to provide relevant information to the specific genotype/phenotype correlation. (c) 2019 S. Karger AG, Basel.
conferenceObject Investigating the CNVs in routine diagnostics using WES and array in Brazilian patients(2019) ZANARDO, E. A.; CHEHIMI, S. N.; MONTEIRO, F. P.; MADIA, F. A. R.; NOVO-FILHO, G. M.; DIAS, A. T.; MONTENEGRO, M. M.; OLIVEIRA, Y. G.; VIEIRA, L. L.; ROCHA, M.; BRASIL, A. S.; NASCIMENTO, A. M.; COSTA, T. V. M. M.; DAMASCENO, J. G.; KOK, F.; KIM, C. A.; KULIKOWSKI, L. D.- GENE EXPRESSION IN BLOOD OF ADOLESCENTS WITH PSYCHIATRIC DISORDERS(2019) SPINDOLA, Leticia; SANTORO, Marcos; PAN, Pedro; TALARICO, Fernanda; XAVIER, Gabriela; CARVALHO, Carolina; GADELHA, Ary; SALUM JUNIOR, Giovanni; MIGUEL, Euripedes Constantino; ROHDE, Luis; ZANARDO, Evelin Aline; KULIKOWSKI, Leslie Domenici; BRESSAN, Rodrigo; OTA, Vanessa; BELANGERO, Sintia
- GENE EXPRESSION IN BLOOD OF ADOLESCENTS WITH PSYCHIATRIC DISORDERS(2019) SPINDOLA, Leticia; SANTORO, Marcos; PAN, Pedro; TALARICO, Fernanda; XAVIER, Gabriela; CARVALHO, Carolina; GADELHA, Ary; SALUM JUNIOR, Giovanni; MIGUEL, Euripedes Constantino; ROHDE, Luis; ZANARDO, Evelin Aline; KULIKOWSKI, Leslie Domenici; BRESSAN, Rodrigo; OTA, Vanessa; BELANGERO, Sintia
conferenceObject Repetitive elements associated with breakpoints of distal 5p deletions suggest mechanisms mediating these rearrangements(2019) CHEHIMI, S. N.; ZANARDO, E. A.; MADIA, F. A. R.; DIAS, A. T.; NOVO-FILHO, G. M.; MONTENEGRO, M. M.; NASCIMENTO, A. M.; DAMASCENO, J. G.; OLIVEIRA, Y. G.; VIEIRA, L. L.; KIM, C. A.; KULIKOWSKI, L. D.conferenceObject Multi-gene panel testing improves diagnosis in Brazilian patients with Early-Onset Epilepsy(2019) NOVO FILHO, G. M.; DIAS, A. T.; NASCIMENTO, A. M.; DAMASCENO, J. G.; ZANARDO, E. A.; CHEHIMI, S. N.; MADIA, F. A. R.; AKL, O. S.; AKL, O. S.; MONTENEGRO, M. M.; OLIVEIRA, Y. G.; VIEIRA, L. L.; MANREZA, M. L. G.; KULIKOWSKI, L. D.- EVALUATION OF GENE EXPRESSION IN EARLY SUBSTANCE ABUSE(2019) TALARICO, Fernanda; SANTORO, Marcos; SPINDOLA, Leticia; OTA, Vanessa; ZANARDO, Evelin Aline; KULIKOWSKI, Leslie Domenici; PELLEGRINO, Renata; PAN, Pedro; GADELHA, Ary; SALUM JUNIOR, Giovanni; HAKONARSON, Hakon; BRESSAN, Rodrigo; BELANGERO, Sintia