(Q34476325)

24813812

2 August 2017

title

Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets (English)

1 reference

24813812

Smith-Lemli-Opitz syndrome

2 August 2017

main subject

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24813812%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Claire L Simpson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24813812%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Joan Bailey-Wilson

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24813812%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Christopher A Wassif

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24813812%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

author name string

J Iben

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24813812%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

A Thurm

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24813812%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

S Swedo

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24813812%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

E Tierney

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24813812%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

L G Biesecker

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24813812%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

F D Porter

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24813812%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

language of work or name

1 reference

6 June 2014

1 reference

2 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24813812%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

volume

87

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24813812%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24813812%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

page(s)

570-575

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24813812%20AND%20SRC:MED&resulttype=core&format=json

Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome.

2 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225182

Pregnancy in an individual with mild Smith-Lemli-Opitz syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225182

Mutational spectrum of smith-lemli-opitz syndrome patients in hungary

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225182

An integrated map of genetic variation from 1,092 human genomes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225182

Mutational spectrum of Smith-Lemli-Opitz syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225182

Malformation syndromes caused by disorders of cholesterol synthesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225182

A method and server for predicting damaging missense mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225182

The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225182

SNPnexus: a web database for functional annotation of newly discovered and public domain single nucleotide polymorphisms.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225182

Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225182

Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225182

The Smith-Lemli-Opitz syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4225182

Relation between biomarkers and clinical severity in patients with Smith-Lemli-Opitz syndrome

6 July 2018

1 reference

The Human Gene Mutation Database: 2008 update

21 January 2018

1 reference

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

21 January 2018

1 reference

Borderline normal intelligence in the Smith-Lemli-Opitz (RSH) syndrome.

21 January 2018

1 reference

DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients?

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24813812

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24813812

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Prenatal death in Smith-Lemli-Opitz/RSH syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24813812

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1111/CGE.12425

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24813812%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24813812%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

24813812

1 reference