|
Vargas, F R; Roessler, E; Gaudenz, K et al. (1998) Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly. Hum Genet 102:387-92
|
|
Ming, J E; Muenke, M (1998) Holoprosencephaly: from Homer to Hedgehog. Clin Genet 53:155-63
|
|
Ming, J E; Roessler, E; Muenke, M (1998) Human developmental disorders and the Sonic hedgehog pathway. Mol Med Today 4:343-9
|
|
Roessler, E; Muenke, M (1998) Holoprosencephaly: a paradigm for the complex genetics of brain development. J Inherit Metab Dis 21:481-97
|
|
Gaudenz, K; Roessler, E; Vainikka, S et al. (1998) Analysis of patients with craniosynostosis syndromes for a pro246Arg mutation of FGFR4. Mol Genet Metab 64:76-9
|
|
Mallee, J J; Atta, M G; Lorica, V et al. (1997) The structural organization of the human Na+/myo-inositol cotransporter (SLC5A3) gene and characterization of the promoter. Genomics 46:459-65
|
|
Roessler, E; Belloni, E; Gaudenz, K et al. (1997) Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly. Hum Mol Genet 6:1847-53
|
|
Roessler, E; Ward, D E; Gaudenz, K et al. (1997) Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly. Hum Genet 100:172-81
|
|
Feldman, G J; Ward, D E; Lajeunie-Renier, E et al. (1997) A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22. Hum Mol Genet 6:1937-41
|
|
Roessler, E; Belloni, E; Gaudenz, K et al. (1996) Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet 14:357-60
|
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