|
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
|
|
Muenke, M; Cohen Jr, M M (2000) Genetic approaches to understanding brain development: holoprosencephaly as a model. Ment Retard Dev Disabil Res Rev 6:15-21
|
|
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
|
Showing the most recent 10 out of 38 publications
