×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS).
17497248 2007
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts.
17237122 2007
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
SLOS is caused by the mutations in the gene for 3beta-hydroxysterol Delta(7) reductase (DHCR7 ; EC 1.3.1.21), which maps to chromosome 11q12-13.17994283 2007
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts.
17237122 2007
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations.
16497572 2007
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
DHCR7 mutation is a rapid and reliable method for prenatal diagnosis of SLOS , and provides an alternative to specialized biochemical tests for elevated 7DHC in amniotic fluid or CVS.17441222 2007
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol.
16983147 2006
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol.
16983147 2006
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome.
16392899 2005
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients.
16044199 2005
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome.
15464432 2005
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients.
16044199 2005
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome.
15805162 2005
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
We report the mutation analysis and determination of residual cholesterol synthesis in 47 SLOS patients, and the effects of treatment of SLOS skin fibroblasts with simvastatin.
15896653 2005
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients.
15952211 2005
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
We report the mutation analysis and determination of residual cholesterol synthesis in 47 SLOS patients, and the effects of treatment of SLOS skin fibroblasts with simvastatin.
15896653 2005
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome.
15805162 2005
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
Surveys of SLOS patients have identified more than one hundred point mutations of the DHCR7 gene, most of which are missense mutations.
15954111 2005
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome.
15464432 2005
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.
15776424 2005
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
15670717 2005
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients.
15952211 2005
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
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 2005
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7 .
15979035 2005
×
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
Recent insights into the Smith-Lemli-Opitz syndrome.
16207203 2005