Belangero, Sintia Iole Nogueira; Bellucco, Fernanda Teixeira da Silva; Cernach, Mirlene C S P et al. (2009) Interrupted aortic arch type B in A patient with cat eye syndrome. Arq Bras Cardiol 92:e29-31, e56-8 |
Goldmuntz, Elizabeth; Driscoll, Deborah A; Emanuel, Beverly S et al. (2009) Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome. Birth Defects Res A Clin Mol Teratol 85:125-9 |
Bearden, Carrie E; van Erp, Theo G M; Dutton, Rebecca A et al. (2009) Alterations in midline cortical thickness and gyrification patterns mapped in children with 22q11.2 deletions. Cereb Cortex 19:115-26 |
Nogueira, Sintia Iole; Hacker, April M; Bellucco, Fernanda T S et al. (2008) Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum. Eur J Med Genet 51:226-30 |
Nogueira, Sintia Iole; Hacker, April M; Bellucco, Fernanda T S et al. (2007) Deletion 22q11.2: report of a complex meiotic mechanism of origin. Am J Med Genet A 143A:1778-81 |
Ruotolo, Rachel A; Veitia, Nestor A; Corbin, Aaron et al. (2006) Velopharyngeal anatomy in 22q11.2 deletion syndrome: a three-dimensional cephalometric analysis. Cleft Palate Craniofac J 43:446-56 |
Vorstman, J A S; Jalali, G R; Rappaport, E F et al. (2006) MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q. Hum Mutat 27:814-21 |
Kato, Takema; Inagaki, Hidehito; Yamada, Kouji et al. (2006) Genetic variation affects de novo translocation frequency. Science 311:971 |
Driscoll, Deborah A; Boland, Torrey; Emanuel, Beverly S et al. (2006) Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndrome. Cleft Palate Craniofac J 43:435-41 |
McDonald-McGinn, Donna M; Minugh-Purvis, Nancy; Kirschner, Richard E et al. (2005) The 22q11.2 deletion in African-American patients: an underdiagnosed population? Am J Med Genet A 134:242-6 |
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