Condition: Smith-Lemli-Opitz Syndrome


rs1046560765 in DHCR7 gene and Smith-Lemli-Opitz Syndrome PMID 10995508 2000 Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping.

PMID 11175299 2001 Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.

PMID 15896653 2005 Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts.

PMID 23918729 2013 Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome.

PMID 22438180 2012 Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype.

PMID 23519317 2013 Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

PMID 12818773 2003 [Clinical characteristics and diagnosis of Smith-Lemli-Opitz syndrome and tentative phenotype-genotype correlation: report of 45 cases].

PMID 15776424 2005 Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.

PMID 16983147 2006 Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol.

PMID 9634533 1998 Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

PMID 15952211 2005 DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients.

PMID 21990131 2011 Adrenal function in Smith-Lemli-Opitz syndrome.

PMID 22391996 2012 No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome.

PMID 24500076 2014 Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome.

PMID 16181459 2005 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.

PMID 15954111 2005 Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS).

PMID 9653161 1998 Among the mutations found in patients with the SLOS, are missense (P51S, T93M, L99P, L157P, A247V, V326L, R352W, C380S, R404C, and G410S), nonsense (W151X), and splice site (IVS8-1G>C) mutations as well as an out of frame deletion (720-735 del).

PMID 10814720 2000 Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.

PMID 25637936 2015 The terminal enzymes of cholesterol synthesis, DHCR24 and DHCR7, interact physically and functionally.

PMID 12949967 2003 Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.

PMID 10677299 2000 Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.

PMID 9683613 1998 Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.

PMID 11427181 2001 Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome.

PMID 15521979 2004 DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.

PMID 9653161 1998 Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome.

PMID 28349652 2017 Normal IQ is possible in Smith-Lemli-Opitz syndrome.

PMID 22929031 2013 Maternal ABCA1 genotype is associated with severity of Smith-Lemli-Opitz syndrome and with viability of patients homozygous for null mutations.

PMID 15805162 2005 DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome.

PMID 15979035 2005 Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7.

PMID 10995508 2000 We also report rapid polymerase chain reaction (PCR)-based assays developed to detect four of the recurring mutations (T93M, W151X, V326L, and R404C) and six other RSH/SLOS mutations (321G-->C, L109P, T154M, T289I, Y318N, and L341P).

PMID 9653161 1998 Among the mutations found in patients with the SLOS, are missense (P51S, T93M, L99P, L157P, A247V, V326L, R352W, C380S, R404C, and G410S), nonsense (W151X), and splice site (IVS8-1G>C) mutations as well as an out of frame deletion (720-735 del).

PMID 11078571 2000 Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosis.

PMID 11175299 2001 W151X is the most frequent (0.33) mutation in Polish SLOS patients.

PMID 9653161 1998 Among the mutations found in patients with the SLOS, are missense (P51S, T93M, L99P, L157P, A247V, V326L, R352W, C380S, R404C, and G410S), nonsense (W151X), and splice site (IVS8-1G>C) mutations as well as an out of frame deletion (720-735 del).

PMID 10995508 2000 We also report rapid polymerase chain reaction (PCR)-based assays developed to detect four of the recurring mutations (T93M, W151X, V326L, and R404C) and six other RSH/SLOS mutations (321G-->C, L109P, T154M, T289I, Y318N, and L341P).

PMID 17965227 2008 As reported before, the mutational spectra differed significantly between populations, and frequency peaks of common mutations were observed in North-West (c.964-1G>C), North-East (p.Trp151X, p.Val326Leu) and Southern Europe (p.Thr93Met).SLOS was virtually absent from Finland.

PMID 19390132 2009 Mutations W151X and V326L accounted for 76% of the SLOS alleles in Slovak population.

PMID 23293579 2012 Mutational spectrum of smith-lemli-opitz syndrome patients in hungary.

PMID 15670717 2005 3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.

PMID 20556518 2010 The results of our previous newborn screening, based on the carrier frequency of the two most common SLOS-causing mutations in Poland (p.W151X and p.V326L), would make SLOS one of the most frequent recessive disorders in our country (with an incidence of 1:2,300 - 1:3,937).

PMID 16497572 2007 In Polish individuals with SLOS two DHCR7 mutations, c.452G>A (p.Trp151X) and c.976G>T (p.Val326Leu), account for 65.2% of all observed DHCR7 mutations.

PMID 10995508 2000 We also report rapid polymerase chain reaction (PCR)-based assays developed to detect four of the recurring mutations (T93M, W151X, V326L, and R404C) and six other RSH/SLOS mutations (321G-->C, L109P, T154M, T289I, Y318N, and L341P).

PMID 18249054 2008 Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literature.

PMID 11111101 2000 Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome.

PMID 23042628 2012 Mutational spectrum of Smith-Lemli-Opitz syndrome.

PMID 11453964 2001 The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology.

PMID 11767235 2001 DHCR7 and Smith-Lemli-Opitz syndrome.

PMID 17441222 2007 Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis.

PMID 16044199 2005 These results suggest that R352Q is a predominant founder mutation in Japanese SLOS patients.

PMID 20556518 2010 Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?

PMID 21696385 2012 Smith-Lemli-Opitz syndrome among Arabs.

PMID 12070263 2002 Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada.

PMID 19390132 2009 Spectrum of DHCR7 mutations in Slovak patients with Smith-Lemli-Opitz syndrome and detection of common mutations by PCR-based assays.

PMID 10995508 2000 We also report rapid polymerase chain reaction (PCR)-based assays developed to detect four of the recurring mutations (T93M, W151X, V326L, and R404C) and six other RSH/SLOS mutations (321G-->C, L109P, T154M, T289I, Y318N, and L341P).

PMID 22382802 2012 Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders.

PMID 11161831 2001 Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome.

PMID 24824134 2015 Birthday of a syndrome: 50 years anniversary of Smith-Lemli-Opitz Syndrome.

PMID 10710236 2000 Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-G-->C is found in over sixty percent of US propositi.

PMID 20104611 2010 Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism.

PMID 20635399 2010 Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome.

PMID 21777499 2011 Smith-Lemli-Opitz syndrome.

PMID 22975760 2013 An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

PMID 28503313 2017 Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development.

PMID 16044199 2005 R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients.

PMID 20052364 2010 Genetic analysis of the DHCR7 gene identified a novel missense mutation (Pro227Ser) as well as a known mutation (Gly303Arg) previously identified in a Japanese patient with SLOS.

PMID 28166604 2017 Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates.

PMID 10995508 2000 We also report rapid polymerase chain reaction (PCR)-based assays developed to detect four of the recurring mutations (T93M, W151X, V326L, and R404C) and six other RSH/SLOS mutations (321G-->C, L109P, T154M, T289I, Y318N, and L341P).

PMID 17237122 2007 Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts.

PMID 20694756 2010 Abstracts of the Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Istanbul, Turkey. August 31-September 3, 2010.

PMID 11241839 2001 Mutations in the human DHCR7 gene.

PMID 12914579 2003 Smith-Lemli-Opitz syndrome and the DHCR7 gene.

PMID 17497248 2007 Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS).

PMID 17994283 2007 Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic.

PMID 11745994 2001 Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome.

PMID 20014133 2010 Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome.

PMID 14981719 2004 Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome.

PMID 27401223 2016 Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review.

PMID 22211794 2012 High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey.

PMID 16392899 2005 The molecular analysis of the coding exons and the intron-exon boundaries of the DHCR7 gene demonstrated the presence of two missense mutations: a novel mutation (I251N) and a known mutation (E288K) responsible in a compound heterozygous state for a severe form of SLOS.

PMID 10995508 2000 We also report rapid polymerase chain reaction (PCR)-based assays developed to detect four of the recurring mutations (T93M, W151X, V326L, and R404C) and six other RSH/SLOS mutations (321G-->C, L109P, T154M, T289I, Y318N, and L341P).

PMID 9653161 1998 Among the mutations found in patients with the SLOS, are missense (P51S, T93M, L99P, L157P, A247V, V326L, R352W, C380S, R404C, and G410S), nonsense (W151X), and splice site (IVS8-1G>C) mutations as well as an out of frame deletion (720-735 del).

PMID 15464432 2005 Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome.

PMID 27513191 2017 A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.

PMID 10896306 2000 Smith-Lemli-Opitz syndrome: molecular-genetic analysis of ten families.

PMID 12270273 2002 Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome.

PMID 10602371 1999 Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations.

PMID 21706511 2011 Holoprosencephaly at prenatal diagnosis: analysis of 28 cases regarding etiopathogenic diagnoses.

PMID 10602371 1999 Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations.

PMID 10995508 2000 We also report rapid polymerase chain reaction (PCR)-based assays developed to detect four of the recurring mutations (T93M, W151X, V326L, and R404C) and six other RSH/SLOS mutations (321G-->C, L109P, T154M, T289I, Y318N, and L341P).

PMID 14981719 2004 Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome.

PMID 9653161 1998 Among the mutations found in patients with the SLOS, are missense (P51S, T93M, L99P, L157P, A247V, V326L, R352W, C380S, R404C, and G410S), nonsense (W151X), and splice site (IVS8-1G>C) mutations as well as an out of frame deletion (720-735 del).

PMID 15776424 2005 The analysis included 20 Spanish and 12 Italian SLOS patients and revealed very different mutation spectra in these patients compared to previously described patients from Czechoslovakia, Germany, Poland, and the UK and implicated p.Thr93Met on the J haplotype as the most frequent Mediterranean founder mutation.

PMID 22226660 2012 Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.

PMID 18076100 2008 Acute postnatal cataract formation in Smith-Lemli-Opitz syndrome.

PMID 16207203 2005 Recent insights into the Smith-Lemli-Opitz syndrome.

PMID 26969503 2016 The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome.

PMID 10405455 1999 Biochemical variants of Smith-Lemli-Opitz syndrome.

PMID 20556518 2010 The results of our previous newborn screening, based on the carrier frequency of the two most common SLOS-causing mutations in Poland (p.W151X and p.V326L), would make SLOS one of the most frequent recessive disorders in our country (with an incidence of 1:2,300 - 1:3,937).

PMID 9653161 1998 Among the mutations found in patients with the SLOS, are missense (P51S, T93M, L99P, L157P, A247V, V326L, R352W, C380S, R404C, and G410S), nonsense (W151X), and splice site (IVS8-1G>C) mutations as well as an out of frame deletion (720-735 del).

PMID 10995508 2000 We also report rapid polymerase chain reaction (PCR)-based assays developed to detect four of the recurring mutations (T93M, W151X, V326L, and R404C) and six other RSH/SLOS mutations (321G-->C, L109P, T154M, T289I, Y318N, and L341P).

PMID 9653161 1998 Among the mutations found in patients with the SLOS, are missense (P51S, T93M, L99P, L157P, A247V, V326L, R352W, C380S, R404C, and G410S), nonsense (W151X), and splice site (IVS8-1G>C) mutations as well as an out of frame deletion (720-735 del).

PMID 15877207 2005 Selective antibody immune deficiency in a patient with Smith-Lemli-Opitz syndrome.

PMID 9653161 1998 Among the mutations found in patients with the SLOS, are missense (P51S, T93M, L99P, L157P, A247V, V326L, R352W, C380S, R404C, and G410S), nonsense (W151X), and splice site (IVS8-1G>C) mutations as well as an out of frame deletion (720-735 del).

PMID 15013448 2004 A novel mutation of the human 7-dehydrocholesterol reductase gene reduces enzyme activity in patients with holoprosencephaly.

PMID 9653161 1998 Among the mutations found in patients with the SLOS, are missense (P51S, T93M, L99P, L157P, A247V, V326L, R352W, C380S, R404C, and G410S), nonsense (W151X), and splice site (IVS8-1G>C) mutations as well as an out of frame deletion (720-735 del).