×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
To establish that defects in this gene cause SLOS , we sequenced cDNA clones from SLOS patients.
9634533
1998
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
Our results strongly suggest that defects in the DHCR7 gene cause the SLOS .
9653161
1998
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
Our results strongly suggest that defects in the DHCR7 gene cause the SLOS .
9653161
1998
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
Our data demonstrate that Smith-Lemli-Opitz syndrome is caused by mutations in the gene coding for 7-dehydrocholesterol reductase .
9683613
1998
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
Biochemical variants of Smith-Lemli-Opitz syndrome.
10405455
1999
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
Biochemical variants of Smith-Lemli-Opitz syndrome.
10405455
1999
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
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
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
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
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
We have determined, in 84 patients with clinically and biochemically characterized SLOS (detection rate 96%), the mutational spectrum in the DHCR7 gene.
10677299
2000
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
We have determined, in 84 patients with clinically and biochemically characterized SLOS (detection rate 96%), the mutational spectrum in the DHCR7 gene.
10677299
2000
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
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
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.
10814720
2000
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.
10814720
2000
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
Smith-Lemli-Opitz syndrome: molecular-genetic analysis of ten families.
10896306
2000
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
Smith-Lemli-Opitz syndrome: molecular-genetic analysis of ten families.
10896306
2000
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
The purpose of this article is to correlate detailed clinical information with molecular data in order to improve our understanding of the genotype-phenotype correlation of RSH /SLOS and to report the development of PCR-based assays that will allow more rapid mutation analysis.
10995508
2000
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
The purpose of this article is to correlate detailed clinical information with molecular data in order to improve our understanding of the genotype-phenotype correlation of RSH /SLOS and to report the development of PCR-based assays that will allow more rapid mutation analysis.
10995508
2000
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
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.
11078571
2000
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome.
11111101
2000
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
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
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
Here we report mutation analysis of the DHCR7 gene in SLOS patients from Poland (n = 15), Germany/Austria (n = 22) and Great Britain (n = 22).
11175299
2001
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
Here we report mutation analysis of the DHCR7 gene in SLOS patients from Poland (n = 15), Germany/Austria (n = 22) and Great Britain (n = 22).
11175299
2001
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
Mutations in the human DHCR7 gene.
11241839
2001
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
CausalMutation
CLINVAR
We here report mutations identified in the DHCR7 gene of 13 children diagnosed with SLOS by clinical and biochemical criteria.
11427181
2001
×
Entrez Id:
1717
Gene Symbol:
DHCR7
DHCR7
Smith-Lemli-Opitz Syndrome
1.000
GeneticVariation
CLINVAR
We here report mutations identified in the DHCR7 gene of 13 children diagnosed with SLOS by clinical and biochemical criteria.
11427181
2001