rs80338859
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.
|
27513191 |
2017 |
rs80338859
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
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).
|
20556518 |
2010 |
rs80338859
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.
|
15521979 |
2004 |
rs80338859
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
Smith-Lemli-Opitz syndrome: molecular-genetic analysis of ten families.
|
10896306 |
2000 |
rs80338859
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome.
|
10814720 |
2000 |
rs80338859
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
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).
|
9653161 |
1998 |
rs80338853
|
|
A |
0.840 |
CausalMutation |
CLINVAR |
High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey.
|
22211794 |
2012 |
rs80338853
|
|
A |
0.840 |
CausalMutation |
CLINVAR |
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.
|
15776424 |
2005 |
rs80338853
|
|
A |
0.840 |
CausalMutation |
CLINVAR |
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.
|
15670717 |
2005 |
rs80338853
|
|
A |
0.840 |
CausalMutation |
CLINVAR |
Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome.
|
14981719 |
2004 |
rs80338853
|
|
A |
0.840 |
CausalMutation |
CLINVAR |
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).
|
10995508 |
2000 |
rs80338853
|
|
A |
0.840 |
CausalMutation |
CLINVAR |
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.
|
10677299 |
2000 |
rs80338853
|
|
A |
0.840 |
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 |
rs80338853
|
|
A |
0.840 |
CausalMutation |
CLINVAR |
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).
|
9653161 |
1998 |
rs80338853
|
|
A |
0.840 |
GeneticVariation |
CLINVAR |
|
|
|
rs121909768
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Smith-Lemli-Opitz syndrome among Arabs.
|
21696385 |
2012 |
rs61757582
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype.
|
22438180 |
2012 |
rs80338860
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Mutational spectrum of Smith-Lemli-Opitz syndrome.
|
23042628 |
2012 |
rs121909768
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?
|
20556518 |
2010 |
rs121909768
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis.
|
17441222 |
2007 |
rs80338860
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol.
|
16983147 |
2006 |
rs121909768
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
These results suggest that R352Q is a predominant founder mutation in Japanese SLOS patients.
|
16044199 |
2005 |
rs61757582
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS).
|
15954111 |
2005 |
rs61757582
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts.
|
15896653 |
2005 |
rs80338860
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients.
|
15952211 |
2005 |