Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith–Lemli–Opitz syndrome fibroblasts

Combined analysis of oligonucleotide microarray data from transgenic and knockout mice identifies direct SREBP target genes

Jay D. Horton, Nila Shah, Janet A. Warrington et al. · Proceedings of the National Academy of Sciences · 2003 · 1.4K citations · Full text

Life Sciences, Genetics, Molecular Biology +16

Defective Cholesterol Biosynthesis Associated with the Smith-Lemli-Opitz Syndrome

G S Tint, Mira Irons, Ellen Roy Elias et al. · New England Journal of Medicine · 1994 · 814 citations · Full text

Life Sciences, Genetics, Pediatrics +15

A solvent system for delipidation of plasma or serum without protein precipitation

Bill E. Cham, Brian Knowles · Journal of Lipid Research · 1976 · 518 citations · Full text

Life Sciences, Biochemistry, Lipid Biochemistry +15

Mutations in the Human Sterol Δ7-Reductase Gene at 11q12-13 Cause Smith-Lemli-Opitz Syndrome

Christopher A. Wassif, Cheryl L. Maslen, Stivelia Kachilele-Linjewile et al. · The American Journal of Human Genetics · 1998 · 424 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Mutations in the Δ7-sterol reductase gene in patients with the Smith–Lemli–Opitz syndrome

Barbara U. Fitzky, Martina Witsch‐Baumgartner, Martin Erdel et al. · Proceedings of the National Academy of Sciences · 1998 · 388 citations

Life Sciences, Genetics, Molecular Genetics +17