(Q33625271)

28 July 2017

1 reference

title

Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism (English)

1 reference

Smith-Lemli-Opitz syndrome

28 July 2017

main subject

1 reference

5

Maximilian Muenke

1 reference

28 July 2017

David D Weaver

1

1 reference

28 July 2017

Benjamin D Solomon

series ordinal

2

1 reference

28 July 2017

Kelly Akin-Samson

series ordinal

3

1 reference

28 July 2017

Richard I Kelley

series ordinal

4

1 reference

28 July 2017

publication date

1 February 2010

1 reference

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

154C

1 reference

28 July 2017

issue

1

1 reference

28 July 2017

page(s)

142-145

1 reference

Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815131

Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815131

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815131

The Smith-Lemli-Opitz syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815131

Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815131

Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815131

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815131

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815131

The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815131

Defective forebrain development in mice lacking gp330/megalin

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815131

Smith-Lemli-Opitz syndrome. II: A disorder of the fetal adrenals?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815131

Human lamin B receptor exhibits sterol C14-reductase activity in Saccharomyces cerevisiae

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.C.30241

DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815131

MRI and 1H�MRS findings in Smith-Lemli-Opitz syndrome

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815131

Teratogen-mediated inhibition of target tissue response to Shh signaling

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2815131

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

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20104611

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog?

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20104611

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.C.30241

1 reference

28 July 2017

1 reference

28 July 2017

1 reference