Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Institutional National Research Service Award (T32)
Project #
5T32HD007105-22
Application #
2875496
Study Section
Mental Retardation Research Committee (HDMR)
Program Officer
Hanson, James W
Project Start
1977-07-15
Project End
2002-04-30
Budget Start
1998-05-01
Budget End
1999-04-30
Support Year
22
Fiscal Year
1998
Total Cost
Indirect Cost
Name
Mount Sinai School of Medicine
Department
Genetics
Type
Schools of Medicine
DUNS #
114400633
City
New York
State
NY
Country
United States
Zip Code
10029
Bard, Kim A; Brent, Linda; Lester, Barry et al. (2011) Neurobehavioral Integrity of Chimpanzee Newborns: Comparisons across groups and across species reveal gene-environment interaction effects. Infant Child Dev 20:47-93
Mc Guire, Peter J; Lim-Melia, Elizabeth; Diaz, George A et al. (2008) Combined liver-kidney transplant for the management of methylmalonic aciduria: a case report and review of the literature. Mol Genet Metab 93:22-9
Yasuda, Makiko; Domaradzki, Maciej E; Armentano, Donna et al. (2007) Acute intermittent porphyria: vector optimization for gene therapy. J Gene Med 9:806-11
Bishop, David F; Johansson, Annika; Phelps, Robert et al. (2006) Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions. Am J Hum Genet 78:645-58
Shabbeer, Junaid; Yasuda, Makiko; Benson, Stacy D et al. (2006) Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations. Hum Genomics 2:297-309
Tukel, T; Uzumcu, A; Gezer, A et al. (2005) A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter. J Med Genet 42:408-15
Yoon-Robarts, Miran; Linden, R Michael (2003) Identification of active site residues of the adeno-associated virus type 2 Rep endonuclease. J Biol Chem 278:4912-8
Levy, Brynn; Dunn, Teresa M; Kern, Jeffrey H et al. (2002) Delineation of the dup5q phenotype by molecular cytogenetic analysis in a patient with dup5q/del 5p (cri du chat). Am J Med Genet 108:192-7
Tadin, M; Braverman, E; Cianfarani, S et al. (2001) Complex cytogenetic rearrangement of chromosome 8q in a case of Ambras syndrome. Am J Med Genet 102:100-4
Amma, L L; Campos-Barros, A; Wang, Z et al. (2001) Distinct tissue-specific roles for thyroid hormone receptors beta and alpha1 in regulation of type 1 deiodinase expression. Mol Endocrinol 15:467-75

Showing the most recent 10 out of 40 publications