Characterization of apparently balanced chromosomal rearrangements associated with clinical phenotypes: breakpoint mapping and screening for submicroscopic deletions and duplications

• Grant number: 09/03480-8
• Support Opportunities: Scholarships in Brazil - Master
• Start date: August 01, 2009
• End date: July 31, 2011
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Angela Maria Vianna Morgante
• Grantee: Ana Carolina dos Santos Fonseca
• Host Institution: Instituto de Biociências (IB). Universidade de São Paulo (USP). São Paulo , SP, Brazil
• Associated research grant: 98/14254-2 - The Human Genome Research Center, AP.CEPID

Scientific publications

(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)

FONSECA, A. C. S.; BONALDI, A.; COSTA, S. S.; FREITAS, M. R.; KOK, F.; VIANNA-MORGANTE, A. M.. PLP1 duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus-Merzbacher disease in a girl. Clinical Genetics, v. 83, n. 2, p. 169-174, FEB 2013. (09/03480-8, 09/00898-1, 98/14254-2)

FONSECA, ANA CAROLINA S.; BONALDI, ADRIANO; BERTOLA, DEBORA R.; KIM, CHONG A.; OTTO, PAULO A.; VIANNA-MORGANTE, ANGELA M.. The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia. BMC MEDICAL GENETICS, v. 14, MAY 7 2013. (09/03480-8, 11/12486-0, 11/14293-4)

Academic Publications

(References retrieved automatically from State of São Paulo Research Institutions)

FONSECA, Ana Carolina dos Santos. Characterization of apparently balanced chromosomal rearrangements associated with clinical phenotypes. 2011. Master's Dissertation - Universidade de São Paulo (USP). Instituto de Biociências (IBIOC/SB) São Paulo.