Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Research Project (R01)
Project #
5R01HD029862-02
Application #
2202245
Study Section
Mammalian Genetics Study Section (MGN)
Project Start
1994-12-01
Project End
1997-11-30
Budget Start
1995-12-01
Budget End
1996-11-30
Support Year
2
Fiscal Year
1996
Total Cost
Indirect Cost
Name
Children's Hospital of Philadelphia
Department
Type
DUNS #
073757627
City
Philadelphia
State
PA
Country
United States
Zip Code
19104
Knepper, Jessica L; James, Alison C; Ming, Jeffrey E (2006) TGIF, a gene associated with human brain defects, regulates neuronal development. Dev Dyn 235:1482-90
Roessler, Erich; Du, Yang-Zhu; Mullor, Jose L et al. (2003) Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proc Natl Acad Sci U S A 100:13424-9
Schell-Apacik, Can; Rivero, Mariel; Knepper, Jessica L et al. (2003) SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity. Hum Genet 113:170-7
Orioli, Ieda M; Vieira, Alexandre R; Castilla, Eduardo E et al. (2002) Mutational analysis of the Sonic Hedgehog gene in 220 newborns with oral clefts in a South American (ECLAMC) population. Am J Med Genet 108:12-5
Ming, Jeffrey E; Kaupas, Michelle E; Roessler, Erich et al. (2002) Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Hum Genet 110:297-301
Brown, L Y; Odent, S; David, V et al. (2001) Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination. Hum Mol Genet 10:791-6
Nanni, L; Ming, J E; Du, Y et al. (2001) SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature. Am J Med Genet 102:1-10
Orioli, I M; Castilla, E E; Ming, J E et al. (2001) Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly. Hum Genet 109:1-6
Nanni, L; Croen, L A; Lammer, E J et al. (2000) Holoprosencephaly: molecular study of a California population. Am J Med Genet 90:315-9
Wallis, D; Muenke, M (2000) Mutations in holoprosencephaly. Hum Mutat 16:99-108

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