(Q24539117)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634533%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

title

Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634533%20AND%20SRC:MED&resulttype=core&format=json

Smith-Lemli-Opitz syndrome

12 November 2019

main subject

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634533%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

Robert D. Steiner

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634533%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

author name string

C Maslen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634533%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

S Kachilele-Linjewile

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634533%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

D Lin

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634533%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

L M Linck

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634533%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

W E Connor

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634533%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

F D Porter

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634533%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

language of work or name

English

0 references

publication date

1 July 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634533%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

12 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634533%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

volume

63

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634533%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

page(s)

55-62

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634533%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634533%20AND%20SRC:MED&resulttype=core&format=json

Protein measurement with the Folin phenol reagent

12 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377256

Molecular cloning and expression of the human delta7-sterol reductase

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377256

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377256

Markedly inhibited 7-dehydrocholesterol-delta 7-reductase activity in liver microsomes from Smith-Lemli-Opitz homozygotes

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377256

A simple method for the isolation and purification of total lipides from animal tissues

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377256

Basic local alignment search tool

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377256

Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377256

Cholesterol modification of hedgehog signaling proteins in animal development

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377256

Hedgehog patterning activity: role of a lipophilic modification mediated by the carboxy-terminal autoprocessing domain

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377256

A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377256

The human metabotropic glutamate receptor 8 (GRM8) gene: a disproportionately large gene located at 7q31.3-q32.1.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377256

Cloning by metabolic interference in yeast and enzymatic characterization of Arabidopsis thaliana sterol delta 7-reductase

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377256

Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377256

Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377256

Female external genitalia and müllerian duct derivatives in a 46,XY infant with the smith-lemli-Opitz syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377256

Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377256

Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377256

Abnormal bile acids in the Smith-Lemli-Opitz syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377256

Teratogenic Effect of an Inhibitor of Cholesterol Synthesis (AY 9944) in Rats: Correlation with Maternal Cholesterolemia

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377256

Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377256

Apparent Smith-Lemli-Opitz syndrome and Miller-Dieker syndrome in a family with segregating translocation t(7;17)(q34;p13.1).

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377256

Immortalization of virus-free human placental cells that express tissue-specific functions

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377256

Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377256

Unique lipids of primate spermatozoa: desmosterol and docosahexaenoic acid

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9634533

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9634533

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Pathogenesis of malformations in a rodent model for Smith-Lemli-Opitz syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9634533

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/301936

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634533%20AND%20SRC:MED&resulttype=core&format=json

OpenCitations bibliographic resource ID

12 November 2019

531357

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634533%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference