Core B will provide tissue culture services including the establishment of cell cultures of EBV-transformed lymphocytes and skin fibroblasts. Slides of metaphase chromosomes will be prepared from harvests of cultured cells for FISH experiments. Genomic DNA will be extracted from various sources and also prepared for PFGE. Somatic cell hybrids will be generated as needed.
| 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 |
Showing the most recent 10 out of 26 publications
