High resolution genomic arrays and next generation sequencing in mental deficiency and congenital anomalies diagnosis

• Grant number: 12/50981-5
• Support Opportunities: Research Grants - Innovative Research in Small Business - PIPE
• Start date: March 01, 2013
• End date: February 28, 2015
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Francine Campagnari Guilhem
• Grantee: Francine Campagnari Guilhem
• Company: Deoxi Biotecnologia Ltda
• City: Araçatuba

Scientific publications

(7)

(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)

DE OLIVEIRA, JULIANA FERREIRA; VITAL DO PRADO, PAULA FAVORETTI; DA COSTA, SILVIA SOUZA; SFORCA, MAURICIO LUIS; CANATELI, CAMILA; RANZANI, AMERICO TAVARES; MASCHIETTO, MARIANA; LOPES DE OLIVEIRA, PAULO SERGIO; OTTO, PAULO A.; KLEVIT, RACHEL E.; et al. Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability. Nature Chemical Biology, v. 15, n. 1, p. 62+, JAN 2019. (12/50981-5, 13/08028-1, 15/06281-7)

DOS SANTOS, ALEXSANDRO; CAMPAGNARI, FRANCINE; VICTORINO KREPISCHI, ANA CRISTINA; RIBEIRO CAMARA, MARIA DE LOURDES; DE ARRUDA BRASIL, RITA DE CASSIA E.; VIEIRA, LIGIA; VIANNA-MORGANTE, ANGELA M.; OTTO, PAULO A.; PEARSON, PETER L.; ROSENBERG, CARLA. Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion. Chromosome Research, v. 26, n. 3, p. 191-198, SEP 2018. (12/50981-5, 13/08028-1)

CARVALHO, L. M. L.; DA COSTA, S. S.; CAMPAGNARI, F.; KAUFMAN, A.; BERTOLA, D. R.; DA SILVA, I. T.; KREPISCHI, V, A. C.; KOIFFMANN, C. P.; ROSENBERG, C.. Two novel pathogenic variants in MED13L: one familial and one isolated case. JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, v. 65, n. 12, OCT 2021. (18/08486-3, 13/08028-1, 12/50981-5)

CARNEIRO, THAISE N. R.; KREPISCHI, ANA C. V.; COSTA, SILVIA S.; DA SILVA, ISRAEL TOJAL; VIANNA-MORGANTE, ANGELA M.; VALIERIS, RENAN; EZQUINA, SUZANA A. M.; BERTOLA, DEBORA R.; OTTO, PAULO A.; ROSENBERG, CARLA. Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases. APPLICATION OF CLINICAL GENETICS, v. 11, p. 93-98, 2018. (12/50981-5, 13/08028-1)

VILLELA, DARINE; MAZZONETTO, PATRICIA C.; MIGLIAVACCA, MICHELE P.; PERRONE, EDUARDO; GUIDA, GUSTAVO; MILANEZI, MARIA FERNANDA G.; JORGE, ALEXANDER A. L.; RIBEIRO-BICUDO, LUCILENE A.; KOK, FERNANDO; CAMPAGNARI, FRANCINE; et al. Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 185, n. 8, p. 2335-2344, AUG 2021. (13/08028-1, 14/17132-0, 12/50981-5)

KREPISCHI, ANA C., V; VILLELA, DARINE; DA COSTA, SILVIA SOUZA; MAZZONETTO, PATRICIA C.; MIGLIAVACCA, MICHELE P.; MILANEZI, FERNANDA; SANTOS, JULIANA G.; GUARISCHI-SOUSA, RODRIGO; CAMPANA, GUSTAVO; KOK, FERNANDO; et al. Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil. SCIENTIFIC REPORTS, v. 12, n. 1, p. 11-pg., 2022-09-07. (13/08028-1, 12/50981-5)

LARA CARVALHO, LAURA MACHADO; D'ANGELO, CARLA SUSTEK; VILLELA, DARINE; DA COSTA, SILVIA SOUZA; DE LIMA JORGE, ALEXANDER AUGUSTO; DA SILVA, ISRAEL TOJAL; SCLIAR, MARILIA DE OLIVEIRA; CHAVES, LUIZA DIAS; VICTORINO KREPISCHI, ANA CRISTINA; KOIFFMANN, CELIA PRISZKULNIK; et al. Genetic investigation of syndromic forms of obesity. International Journal of Obesity, v. N/A, p. 5-pg., 2022-05-21. (13/08028-1, 18/08486-3, 12/50981-5)