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Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome.
scientific article published in August 2010
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
3027211
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20635399%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 February 2020
title
Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
3027211
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20635399%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 February 2020
author
Christopher A Wassif
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
3027211
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20635399%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 February 2020
author name string
Grace Koo
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
3027211
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20635399%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 February 2020
Sandra K Conley
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
3027211
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20635399%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 February 2020
Forbes D Porter
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
3027211
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20635399%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 February 2020
language of work or name
English
0 references
publication date
1 August 2010
1 reference
stated in
Europe PubMed Central
PMC publication ID
3027211
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20635399%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 February 2020
published in
American Journal of Medical Genetics
1 reference
stated in
Europe PubMed Central
PMC publication ID
3027211
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20635399%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 February 2020
volume
152A
1 reference
stated in
Europe PubMed Central
PMC publication ID
3027211
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20635399%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 February 2020
issue
8
1 reference
stated in
Europe PubMed Central
PMC publication ID
3027211
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20635399%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 February 2020
page(s)
2094-2098
1 reference
stated in
Europe PubMed Central
PMC publication ID
3027211
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20635399%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 February 2020
cites work
Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027211
retrieved
22 May 2018
Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027211
retrieved
22 May 2018
Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027211
retrieved
22 May 2018
3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027211
retrieved
22 May 2018
Preputial gland tumor sterols. 3. A metabolic pathway from lanosterol to cholesterol
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027211
retrieved
22 May 2018
A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027211
retrieved
22 May 2018
Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027211
retrieved
22 May 2018
Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027211
retrieved
22 May 2018
Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027211
retrieved
22 May 2018
Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027211
retrieved
22 May 2018
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027211
retrieved
22 May 2018
Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027211
retrieved
22 May 2018
Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027211
retrieved
22 May 2018
Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027211
retrieved
22 May 2018
Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027211
retrieved
22 May 2018
Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027211
retrieved
22 May 2018
Female external genitalia and müllerian duct derivatives in a 46,XY infant with the smith-lemli-Opitz syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027211
retrieved
22 May 2018
Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation in African Americans.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027211
retrieved
13 August 2018
Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027211
retrieved
13 August 2018
Identifiers
DOI
10.1002/AJMG.A.33540
1 reference
stated in
Europe PubMed Central
PMC publication ID
3027211
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20635399%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 February 2020
PMC publication ID
3027211
1 reference
stated in
Europe PubMed Central
PMC publication ID
3027211
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20635399%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 February 2020
PubMed publication ID
20635399
1 reference
stated in
Europe PubMed Central
PMC publication ID
3027211
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20635399%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 February 2020
ResearchGate publication ID
45200969
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