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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 type:Scholarships in Brazil - Master
Effective date (Start): August 01, 2009
Effective date (End): July 31, 2011
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal researcher:Angela Maria Vianna Morgante
Grantee:Ana Carolina dos Santos Fonseca
Home 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
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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, . (98/14254-2, 09/00898-1, 09/03480-8)
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, . (11/14293-4, 11/12486-0, 09/03480-8)
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.

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