The implications of 7-dehydrosterol-7-reductase deficiency (Smith–Lemli–Opitz syndrome) to neurosteroid production

Cholesterol Modification of Hedgehog Signaling Proteins in Animal Development

Jeffery A. Porter, Keith E. Young, Philip A. Beachy · Science · 1996 · 1.4K citations

Life Sciences, Biochemistry, Developmental Biology +16

A newly recognized syndromeof multiple congenital anomalies

David W. Smith, Luc Lemli, John M. Opitz · The Journal of Pediatrics · 1964 · 662 citations

Medicine, Obstetrics, Pediatrics +9

Human 3α-hydroxysteroid dehydrogenase isoforms (AKR1C1‒AKR1C4) of the aldo-keto reductase superfamily: functional plasticity and tissue distribution reveals roles in the inactivation and formation of male and female sex hormones

T.M. Penning, Michael E. Burczynski, Joseph M. Jez et al. · Biochemical Journal · 2000 · 572 citations · Full text

Life Sciences, Biochemistry, Endocrinology +17

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

Neurosteroid biosynthesis: genes for adrenal steroidogenic enzymes are expressed in the brain

Synthia H. Mellon, Christian F. Deschepper · Brain Research · 1993 · 404 citations

Life Sciences, Neurobiology, Neuroscience +14