| 1 | A patient with Smith-Lemli-Opitz syndrome: novel muta tion of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement. (19365639) | SzabA^ G.P.... OlA!h E. | 2010 | DHCR7 |
| 2 | A novel DHCR7 mutation in a Smith-Lemli-Opitz syndrom e infant presenting with neonatal cholestasis. (20052364) | Ko J.S.... Kim J.W. | 2010 | DHCR7 |
| 3 | Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrom e: First reported case and consideration of mechanism. (20104611) | Weaver D.D.... Muenke M. | 2010 | DHCR7 |
| 4 | Smith-Lemli-Opitz syndrome--case report, diagnostics and therapeutic options (19856245) | OberthA1r A.... Vierzig A. | 2009 | DHCR7 |
| 5 | Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management. (18285838) | Porter F.D. | 2008 | DHCR7 |
| 6 | Sonic hedgehog in Smith-Lemli-Opitz syndrome and tumor development. (18776754) | Guizzetti M.... Costa L.G. | 2008 | SHH |
| 7 | Oral manifestations of Smith-Lemli-Opitz syndrome: a paediatric case report. (19886368) | Pizzo G.... Giuliana G. | 2008 | DHCR7 |
| 8 | Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature. (18249054) | Jezela-Stanek A.... Krajewska-Walasek M. | 2008 | DHCR7 |
| 9 | Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis. (17441222) | Waye J.S.... Nowaczyk M.J. | 2007 | DHCR7 |
| 10 | Photosensitivity in Smith-Lemli-Opitz syndrome: A flux balance analysis of altered metabolism. (18188427) | Eapen B.R. | 2007 | DHCR7 |
| 11 | Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy. (16446309) | Correa-Cerro L.S.... Porter F.D. | 2006 | DHCR7 |
| 12 | A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome. (16392899) | Romano F.... Travali S. | 2005 | DHCR7 |
| 13 | Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS). (15954111) | Waye J.S.... Porter F.D. | 2005 | DHCR7 |
| 14 | R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients. (16044199) | Matsumoto Y.... Matsuura S. | 2005 | DHCR7 |
| 15 | DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome. (15805162) | Correa-Cerro L.S.... Porter F.D. | 2005 | DHCR7 |
| 16 | Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7. (15979035) | Cardoso M.L.... Vilarinho L. | 2005 | DHCR7 |
| 17 | Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol. (16097001) | Shinawi M.... Potocki L. | 2005 | DHCR7 |
| 18 | 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. (16181459) | Anstey A.V.... Bowden P.E. | 2005 | DHCR7 |
| 19 | Recent insights into the Smith-Lemli-Opitz syndrome. (16207203) | Yu H.... Patel S.B. | 2005 | DHCR7 |
| 20 | Immunohistochemical and microarray analyses of a mouse model for the smith-lemli-opitz syndrome. (16280635) | Waage-Baudet H.... Sulik K.K. | 2005 | DHCR7 |
| 21 | DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients. (15952211) | Scalco F.B.... Moretti-Ferreira D. | 2005 | DHCR7 |
| 22 | Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome. (15319461) | Merkens L.S.... Steiner R.D. | 2004 | DHCR7 |
| 23 | Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. (15286151) | Witsch-Baumgartner M.... Utermann G. | 2004 | LDLR, APOE, DHCR7 |
| 24 | Smith-Lemli-Opitz syndrome and the DHCR7 gene. (12914579) | Jira P.E.... Wevers R.A. | 2003 | DHCR7 |
| 25 | Identification of three patients with a very mild form of Smith- Lemli-Opitz syndrome. (12949967) | Langius F.A.... Poll-The B.T. | 2003 | DHCR7 |
| 26 | Feedback inhibition of the cholesterol biosynthetic pathway in patients with Smith-Lemli-Opitz syndrome as demonstrated by urinary mevalonate excretion. (12364550) | Pappu A.S.... Connor W.E. | 2002 | HMGCR |
| 27 | Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome. (12270273) | Patrono C.... Santorelli F.M. | 2002 | DHCR7 |
| 28 | Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome. (11161831) | Battaile K.P.... Steiner R.D. | 2001 | DHCR7 |
| 29 | Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith-Lemli-Opitz syndrome. (11427181) | Jira P.E.... Waterham H.R. | 2001 | DHCR7 |
| 30 | Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome. (11745994) | Nowaczyk M.J.... Porter F.D. | 2001 | DHCR7 |
| 31 | Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome. (11503168) | Nowaczyk M.J.... Waye J.S. | 2001 | DHCR7 |
| 32 | Oxysterols in the circulation of patients with the Smith-Lemli-Opitz syndrome: abnormal levels of 24S- and 27-hydroxycholesterol. (11254748) | BjAPrkhem I.... Diczfalusy U. | 2001 | CYP27A1 |
| 33 | DHCR7 and Smith-Lemli-Opitz syndrome. (11767235) | Nowaczyk M.J.... Waye J.S. | 2001 | DHCR7 |
| 34 | Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping. (10995508) | Krakowiak P.A.... Porter F.D. | 2000 | DHCR7 |
| 35 | Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome. (10748414) | Patrono C.... Santorelli F.M. | 2000 | DHCR7 |
| 36 | Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome. (11111101) | Waterham H.R.... Wanders R.J. | 2000 | DHCR7 |
| 37 | Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome. (11186897) | Nowaczyk M.J.... Kelley R.E. | 2000 | DHCR7 |
| 38 | Mutational spectrum in the Delta7-sterol reductase gene and genotype- phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. (10677299) | Witsch-Baumgartner M.... Utermann G. | 2000 | DHCR7 |
| 39 | RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis. (11001807) | Porter F.D. | 2000 | DHCR7 |
| 40 | Neonatal urinary steroids in Smith-Lemli-Opitz syndrome associated with 7-dehydrocholesterol reductase deficiency. (10443904) | Shackleton C.H.... Kelley R. | 1999 | DHCR7 |
| 41 | Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations. (10602371) | De Brasi D.... Andria G. | 1999 | DHCR7 |
| 42 | Prenatal diagnosis of Smith-Lemli-Opitz syndrome in a pregnancy with low maternal serum oestriol and a sex-reversed fetus. (10073912) | Bick D.P.... Kelley R.I. | 1999 | CGB7 |
| 43 | Cholesterol biosynthesis from lanosterol. Molecular cloning, tissue distribution, expression, chromosomal localization, and regulation of rat 7-dehydrocholesterol reductase, a Smith-Lemli-Opitz syndrome-related protein. (10329655) | Bae S.H.... Paik Y.K. | 1999 | DHCR7 |
| 44 | Smith-Lemli-Opitz syndrome: in vivo and in vitro study of testicular function in a prepubertal patient with ambiguous genitalia. (10591424) | Berensztein E.... Rivarola M. | 1999 | DHCR7 |
| 45 | Mutations in the delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. (9653161) | Fitzky B.U.... Moebius F.F. | 1998 | DHCR7 |
| 46 | 7-Dehydrocholesterol down-regulates cholesterol biosy nthesis in cultured Smith-Lemli-Opitz syndrome skin fibroblasts. (9548596) | Honda M.... Shefer S. | 1998 | HMGCR |
| 47 | Smith-Lemli-Opitz syndrome; a special defect in cholesterol metabolism (8766772) | Aalfs C.M.... Wijburg F.A. | 1996 | DHCR7 |
| 48 | Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog? (8989473) | Kelley R.L.... Muenke M. | 1996 | DHCR7 |
| 49 | Inhibition of 7-dehydrocholesterol reductase by the teratogen AY9944: a rat model for Smith-Lemli-Opitz syndrome. (8987154) | Kolf-Clauw M.... Roux C. | 1996 | DHCR7 |
| 50 | Hypothalamic-pituitary-gonadal function in two infants with Smith-Lemli-Opitz syndrome. (1605242) | Pankau R.... Sippell W.G. | 1992 | SRD5A1, HSD3BP4 |
