CVI Program Unit(s):
Cardiovascular Development / Congenital Heart Disease
CVI Research Description:
Eight out of every thousand infants (1/120) in the United States are born with a congenital heart defect (CHD) (Clark and Takao, 1990). The most common involve the outflow tract of the heart. The etiology of only a fraction of such CHDs is known. We will rely upon our access to an extensive population of patients at the Children's Hospital of Philadelphia with CHDs, primarily defects of the outflow tract of the heart. Using molecular and cytogenetic techniques we will identify chromosomal abnormalities that will allow us to characterize genes involved in human cardiogenesis.
Nimmakayalu MA., Gotter AL., Shaikh TH., Emanuel BS.: A novel sequence-based approach to localize translocation breakpoints identifies the molecular basis of a t(4;22). Human Molecular Genetics 12(21): 2817-25, Nov 1 2003.
DeBerardinis RJ., Conforto D., Russell K., Kaplan J., Kollros PR., Zackai EH., Emanuel BS.: Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21. American Journal of Medical Genetics 121A(1): 31-6, Aug 15 2003.
McElhinney DB., Driscoll DA., Emanuel BS., Goldmuntz E.: Chromosome 22q11 deletion in patients with truncus arteriosus. Pediatric Cardiology 24(6): 569-73, Nov-Dec 2003.
McElhinney DB., Driscoll DA., Levin ER., Jawad AF., Emanuel BS., Goldmuntz E.: Chromosome 22q11 deletion in patients with ventricular septal defect: frequency and associated cardiovascular anomalies. Pediatrics 112(6 Pt 1): e472, Dec 2003.
Kurahashi H., Shaikh T., Takata M., Toda T., Emanuel BS.: The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats. American Journal of Human Genetics 72(3): 733-8, Mar 2003.
Gripp KW., Kasparcova V., McDonald-McGinn DM., Bhatt S., Bartlett SP., Storm AL., Drumheller TC., Emanuel BS., Zackai EH., Stolle CA.: A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: fluorescence in situ hybridization and dosage-sensitive Southern blot analysis. Genetics in Medicine 3(2): 102-8, Mar-Apr 2001.
Gong W., Gottlieb S., Collins J., Blescia A., Dietz H., Goldmuntz E., McDonald-McGinn DM., Zackai EH., Emanuel BS., Driscoll DA., Budarf ML.: Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects. Journal of Medical Genetics 38(12): E45, Dec 2001.
Kurahashi H., Emanuel BS.: Long AT-rich palindromes and the constitutional t(11;22) breakpoint. Human Molecular Genetics 10(23): 2605-17, Nov 1 2001.
Kurahashi H., Emanuel BS.: Unexpectedly high rate of de novo constitutional t(11;22) translocations in sperm from normal males. Nature Genetics 29(2): 139-40, Oct 2001.
Emanuel BS., Shaikh TH.: Segmental duplications: an 'expanding' role in genomic instability and disease. [Review] [91 refs] Nature Reviews Genetics 2(10): 791-800, Oct 2001.
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Last updated: 08/23/2016
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