|1.||Porter, Forbes D: 13 articles (10/2013 - 08/2003)|
|2.||Wassif, Christopher A: 7 articles (11/2010 - 08/2003)|
|3.||Conley, Sandra K: 4 articles (10/2013 - 01/2010)|
|4.||Waye, John S: 4 articles (07/2007 - 02/2002)|
|5.||Nowaczyk, Małgorzata J M: 4 articles (07/2007 - 02/2002)|
|6.||Eng, Barry: 4 articles (07/2007 - 02/2002)|
|7.||Porter, F D: 3 articles (06/2015 - 10/2001)|
|8.||Balogh, István: 2 articles (10/2015 - 05/2013)|
|9.||Wassif, C A: 2 articles (06/2015 - 10/2010)|
|10.||Xu, Libin: 2 articles (02/2014 - 11/2010)|
06/01/2015 - "For demonstrative purposes, we analyzed the causative gene for the disorder Smith-Lemli-Opitz Syndrome (SLOS), the 7-dehydrocholesterol reductase (DHCR7) gene and determined both the carrier frequency for DHCR7 mutations, and predicted an expected incidence of the disorder. "
01/01/2014 - "First results of molecular analysis of the 7-dehydrocholesterol reductase gene in 10 unrelated Czech and Slovak patients with Smith-Lemli-Opitz syndrome were reported by Kozak et al. (2000). "
09/13/2012 - "Since a defect of 7-dehydrocholesterol reductase is associated with Smith-Lemli-Opitz syndrome (SLOS), the potent and selective inhibitors reported here will enable more detailed investigation of the pathogenesis of SLOS."
11/01/2010 - "Smith-Lemli-Opitz syndrome (SLOS) is a metabolic and developmental disorder caused by mutations in the gene encoding the enzyme 7-dehydrocholesterol reductase (Dhcr7). "
08/01/2010 - "Smith-Lemli-Opitz syndrome (SLOS) is a malformation syndrome resulting from mutations of the 7-dehydrocholesterol reductase (DHCR7) gene. "
|2.||Mental Retardation (Idiocy)
01/01/2010 - "The Smith-Lemli-Opitz (SLO) syndrome is a multiple congenital anomaly with mental retardation due to a decreased or lack of activity of 7-dehydrocholesterol reductase as a consequence of mutations of the DHCR7 gene. "
05/01/2013 - "Smith-Lemli-Opitz syndrome (SLOS), a multiple congenital anomaly with severe mental retardation, is caused by decreased activity of 7-dehydrocholesterol reductase. "
10/18/2015 - "Smith-Lemli-Opitz syndrome is an autosomal recessive mental retardation and multiple malformation syndrome caused by deficiency of the 7-dehydrocholesterol reductase, the enzyme catalyzing the last step in cholesterol biosynthesis. "
09/01/2000 - "Smith-Lemli-Opitz syndrome (SLOS), an autosomal recessive condition with multiple malformations, mental retardation, and growth failure, results from markedly reduced activity of the final enzyme in the cholesterol biosynthetic pathway, 7-dehydrocholesterol reductase (DHCR7). "
02/27/2004 - "A novel mutation of the human 7-dehydrocholesterol reductase gene reduces enzyme activity in patients with holoprosencephaly."
09/01/1997 - "To confirm that blocking 7-dehydrocholesterol delta 7 reductase (7DHC reductase), as observed in Smith-Lemli-Opitz syndrome (SLOS), induces craniofacial defects, we tested BM15.766, which blocks 7DHC reductase but is chemically unrelated to the holoprosencephaly-inducing teratogen AY9944. "
|4.||Bone Fractures (Bone Fracture)
07/01/2012 - "Based on recently reported genetic determinants of vitamin D insufficiency, we aimed to analyze genetic variants of group-specific component (GC), 7-dehydrocholesterol reductase (DHCR7), and cytochrome P450IIR-1 (CYP2R1) for association with vitamin D levels, bone mineral density (BMD), and bone fractures. "
|5.||Vitamin D Deficiency
03/01/2015 - "To date, at least 3 candidate genes, vitamin D binding protein (VDBP) gene (GC), 25-hydroxylase (CYP2R1), and 7-dehydrocholesterol reductase/NAD synthetase 1 (DHCR7/NADSYN1), have been associated with serum 25-hydroxyvitamin D (25[OH]D) levels, but their influences on the prevalence of vitamin D deficiency in relation to other known risk factors have not been clearly defined. "
|3.||trans- 1,4- Bis(2- chlorobenzaminomethyl)cyclohexane Dihydrochloride
|5.||Squalene Monooxygenase (Squalene Epoxidase)
|6.||Complementary DNA (cDNA)
|7.||Vitamin D-Binding Protein
|10.||LDL Receptors (LDL Receptor)