Agency
National Institute of Health (NIH)
Institute
National Heart, Lung, and Blood Institute (NHLBI)
Type
Specialized Center (P50)
Project #
5P50HL051533-04
Application #
6242288
Study Section
Project Start
1997-01-01
Project End
1997-12-31
Budget Start
1996-10-01
Budget End
1997-09-30
Support Year
4
Fiscal Year
1997
Total Cost
Indirect Cost
Name
Children's Hospital of Philadelphia
Department
Type
DUNS #
073757627
City
Philadelphia
State
PA
Country
United States
Zip Code
19104
D'Alessandro, Lisa C A; Latney, Brande C; Paluru, Prasuna C et al. (2013) The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle. Am J Med Genet A 161A:792-802
Chen, J-R; Chatterjee, B; Meyer, R et al. (2004) Tbx2 represses expression of Connexin43 in osteoblastic-like cells. Calcif Tissue Int 74:561-73
Goldmuntz, Elizabeth; Bamford, Richard; Karkera, Jayaprakash D et al. (2002) CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. Am J Hum Genet 70:776-80
Goldmuntz, E; Geiger, E; Benson, D W (2001) NKX2.5 mutations in patients with tetralogy of fallot. Circulation 104:2565-8
Driscoll, D A (2001) Prenatal diagnosis of the 22q11.2 deletion syndrome. Genet Med 3:14-8
Lund, J; Chen, F; Hua, A et al. (2000) Comparative sequence analysis of 634 kb of the mouse chromosome 16 region of conserved synteny with the human velocardiofacial syndrome region on chromosome 22q11.2. Genomics 63:374-83
Li, Y X; Farrell, M J; Liu, R et al. (2000) Double-stranded RNA injection produces null phenotypes in zebrafish. Dev Biol 217:394-405
Galili, N; Nayak, S; Epstein, J A et al. (2000) Rnf4, a RING protein expressed in the developing nervous and reproductive systems, interacts with Gscl, a gene within the DiGeorge critical region. Dev Dyn 218:102-11
Kerstjens-Frederikse, W S; Kurahashi, H; Driscoll, D A et al. (1999) Microdeletion 22q11.2: clinical data and deletion size. J Med Genet 36:721-3
Werner, P; Raducha, M G; Prociuk, U et al. (1999) Comparative mapping of the DiGeorge region in the dog and exclusion of linkage to inherited canine conotruncal heart defects. J Hered 90:494-8

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