|
Smith-Lemli-Opitz Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The terminal enzymes of cholesterol synthesis, DHCR24 and DHCR7, interact physically and functionally.
|
25637936 |
2015 |
|
Smith-Lemli-Opitz Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
|
23519317 |
2013 |
|
Smith-Lemli-Opitz Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS).
|
15954111 |
2005 |
|
Smith-Lemli-Opitz Syndrome
|
|
0.800 |
GeneticVariation
|
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 |
|
Smith-Lemli-Opitz Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.
|
12949967 |
2003 |
|
Smith-Lemli-Opitz Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada.
|
12070263 |
2002 |
|
Smith-Lemli-Opitz Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome.
|
11427181 |
2001 |
|
Smith-Lemli-Opitz Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
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
|
|
0.800 |
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
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
|
|
0.800 |
GeneticVariation
|
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
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.
|
10814720 |
2000 |
|
Smith-Lemli-Opitz Syndrome
|
|
0.800 |
CausalMutation
|
CLINVAR |
Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations.
|
10602371 |
1999 |
|
Smith-Lemli-Opitz Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.
|
9683613 |
1998 |
|
Smith-Lemli-Opitz Syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome.
|
9653161 |
1998 |