94 Article(s)Download |
PMID | Title | Pub. Year | #Total Relationships |
51 | 23920082 | An efficient synthesis of 4α- and 4β-hydroxy- 7-dehydrocholesterol, biomarkers for patients with and animal models of the Smith-Lemli-Opitz syndrome. | 2013 Oct-Nov | 1 |
52 | 24296449 | Smith-Lemli-Opitz syndrome - clinical consequences for dental care. | 2013 Jul-Sep | 1 |
53 | 22391996 | No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome. | 2012 Sep | 1 |
54 | 22882119 | A new class of selective and potent 7-dehydrocholesterol reductase inhibitors. | 2012 Sep 13 | 3 |
55 | 22917620 | Cholesterol epoxide hydrolase and cancer. | 2012 Dec | 1 |
56 | 23042628 | Mutational spectrum of Smith-Lemli-Opitz syndrome. | 2012 Nov 15 | 1 |
57 | 23293579 | Mutational spectrum of smith-lemli-opitz syndrome patients in hungary. | 2012 Nov | 1 |
58 | 20952551 | Inhibition of human sterol Δ7-reductase and other postlanosterol enzymes by LK-980, a novel inhibitor of cholesterol synthesis. | 2011 Jan | 3 |
59 | 21724437 | Alterations in membrane caveolae and BKCa channel activity in skin fibroblasts in Smith-Lemli-Opitz syndrome. | 2011 Nov | 1 |
60 | 20014133 | Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome. | 2010 Jan | 3 |
61 | 20067919 | Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications. | 2010 Apr 1 | 1 |
62 | 20635399 | Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome. | 2010 Aug | 2 |
63 | 19390132 | Spectrum of DHCR7 mutations in Slovak patients with Smith-Lemli-Opitz syndrome and detection of common mutations by PCR-based assays. | 2009 Mar | 1 |
64 | 19856245 | [Smith-Lemli-Opitz syndrome--case report, diagnostics and therapeutic options]. | 2009 Oct | 1 |
65 | 18285838 | Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management. | 2008 May | 1 |
66 | 19886368 | Oral manifestations of Smith-Lemli-Opitz syndrome: a paediatric case report. | 2008 Dec | 1 |
67 | 17441222 | Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis. | 2007 Jul | 1 |
68 | 17650909 | [The Smith-Lemli-Opitz syndrome--case report, early diagnosis]. | 2007 Mar | 1 |
69 | 17994283 | Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic. | 2007 Nov | 2 |
70 | 16687448 | Negative regulation of Hedgehog signaling by the cholesterogenic enzyme 7-dehydrocholesterol reductase. | 2006 Jun | 3 |
71 | 16814115 | Ultraviolet A sensitivity in Smith-Lemli-Opitz syndrome: Possible involvement of cholesta-5,7,9(11)-trien-3 beta-ol. | 2006 Jul 15 | 2 |
72 | 15670717 | 3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome. | 2005 Feb | 3 |
73 | 15896653 | Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts. | 2005 Jun | 2 |
74 | 15954111 | Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS). | 2005 Jul | 1 |
75 | 15979035 | Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7. | 2005 Jul | 1 |
76 | 16181459 | Photosensitive Smith-Lemli-Opitz syndrome is not caused by a single gene mutation: analysis of the gene encoding 7-dehydrocholesterol reductase in five U.K. families. | 2005 Oct | 1 |
77 | 16207203 | Recent insights into the Smith-Lemli-Opitz syndrome. | 2005 Nov | 1 |
78 | 15013448 | A novel mutation of the human 7-dehydrocholesterol reductase gene reduces enzyme activity in patients with holoprosencephaly. | 2004 Feb 27 | 1 |
79 | 15286151 | Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. | 2004 Aug | 2 |
80 | 15464432 | Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome. | 2004 Sep-Oct | 1 |
81 | 15514417 | Cholesterol metabolism and suicidality in Smith-Lemli-Opitz syndrome carriers. | 2004 Nov | 1 |
82 | 12914579 | Smith-Lemli-Opitz syndrome and the DHCR7 gene. | 2003 May | 2 |
83 | 12949967 | Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome. | 2003 Sep 15 | 3 |
84 | 14556255 | Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease. | 2003 Nov 15 | 1 |
85 | 11175299 | Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations. | 2001 Jan | 1 |
86 | 11427181 | Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome. | 2001 May | 4 |
87 | 11453964 | The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology. | 2001 Jun | 2 |
88 | 10677299 | Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. | 2000 Feb | 3 |
89 | 10719329 | Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villi. | 2000 Mar | 2 |
90 | 10946022 | Simvastatin. A new therapeutic approach for Smith-Lemli-Opitz syndrome. | 2000 Aug | 1 |
91 | 10951458 | Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome. | 2000 Aug 28 | 1 |
92 | 11001806 | Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis. | 2000 Sep-Oct | 3 |
93 | 9683613 | Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. | 1998 Aug | 1 |
94 | 7482633 | Enzyme inhibition during the conversion of squalene to cholesterol. | 1995 Jul | 1 |