Associated Papers
Integrated multi-dimensional analysis highlights DHCR7 mutations involving in cholesterol biosynthesis and contributing therapy of gastric cancer.
Chen Y et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2023
Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development.
Tamura M et al.
Human Genome Variation, 2017
Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review.
Boland MR et al.
The Pharmacogenomics Journal, 2016
Mutational spectrum of Smith-Lemli-Opitz syndrome.
Waterham HR et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?
Jezela-Stanek A et al.
Journal of Inherited Metabolic Disease, 2010
Recent insights into the Smith-Lemli-Opitz syndrome.
Yu H et al.
Clinical Genetics, 2005
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
Correa-Cerro LS et al.
Molecular Genetics and Metabolism, 2005
Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease.
Mueller C et al.
American Journal of Medical Genetics. Part A, 2003
DHCR7 and Smith-Lemli-Opitz syndrome.
Nowaczyk MJ et al.
Clinical and Investigative Medicine. Medecine Clinique Et Experimentale, 2001
The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology.
Nowaczyk MJ et al.
Clinical Genetics, 2001
Molecular genetics of the Smith-Lemli-Opitz syndrome and postsqualene sterol metabolism.
Fitzky BU et al.
Current Opinion in Lipidology, 1999
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