|
Smith-Lemli-Opitz Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Birthday of a syndrome: 50 years anniversary of Smith-Lemli-Opitz Syndrome.
|
24824134 |
2015 |
|
Smith-Lemli-Opitz Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
|
22975760 |
2013 |
|
Smith-Lemli-Opitz Syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Maternal ABCA1 genotype is associated with severity of Smith-Lemli-Opitz syndrome and with viability of patients homozygous for null mutations.
|
22929031 |
2013 |
|
Smith-Lemli-Opitz Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Maternal ABCA1 genotype is associated with severity of Smith-Lemli-Opitz syndrome and with viability of patients homozygous for null mutations.
|
22929031 |
2013 |
|
Smith-Lemli-Opitz Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutational spectrum of smith-lemli-opitz syndrome patients in hungary.
|
23293579 |
2012 |
|
Smith-Lemli-Opitz Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutational spectrum of Smith-Lemli-Opitz syndrome.
|
23042628 |
2012 |
|
Smith-Lemli-Opitz Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutational spectrum of Smith-Lemli-Opitz syndrome.
|
23042628 |
2012 |
|
Smith-Lemli-Opitz Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders.
|
22382802 |
2012 |
|
Smith-Lemli-Opitz Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Smith-Lemli-Opitz syndrome.
|
21777499 |
2011 |
|
Smith-Lemli-Opitz Syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism.
|
20104611 |
2010 |
|
Smith-Lemli-Opitz Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome.
|
20635399 |
2010 |
|
Smith-Lemli-Opitz Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism.
|
20104611 |
2010 |
|
Smith-Lemli-Opitz Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol.
|
16983147 |
2006 |
|
Smith-Lemli-Opitz Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients.
|
15952211 |
2005 |
|
Smith-Lemli-Opitz Syndrome
|
|
0.700 |
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 |
|
Smith-Lemli-Opitz Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome.
|
11427181 |
2001 |
|
Smith-Lemli-Opitz Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome.
|
11161831 |
2001 |
|
Smith-Lemli-Opitz Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.
|
11175299 |
2001 |
|
Smith-Lemli-Opitz Syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome.
|
11427181 |
2001 |
|
Smith-Lemli-Opitz Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome.
|
11427181 |
2001 |
|
Smith-Lemli-Opitz Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping.
|
10995508 |
2000 |
|
Smith-Lemli-Opitz Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.
|
10814720 |
2000 |
|
Smith-Lemli-Opitz Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.
|
10677299 |
2000 |
|
Smith-Lemli-Opitz Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.
|
10814720 |
2000 |
|
Smith-Lemli-Opitz Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
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.
|
10710236 |
2000 |