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

(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. (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, MAY 7 2013. (11/14293-4, 11/12486-0, 09/03480-8)

(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.