(Q55176677)

24 June 2018

review article

1 reference

title

Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature. (English)

1 reference

24 June 2018

8

Olivier Lichtarge

1 reference

24 June 2018

Christian P Schaaf

1

1 reference

24 June 2018

Janet Koster

2

1 reference

24 June 2018

Panagiotis Katsonis

3

1 reference

24 June 2018

Lisa Kratz

4

1 reference

24 June 2018

Oleg A Shchelochkov

5

1 reference

24 June 2018

Fernando Scaglia

6

1 reference

24 June 2018

Richard I Kelley

7

1 reference

24 June 2018

Hans R Waterham

9

1 reference

24 June 2018

Marwan Shinawi

10

1 reference

24 June 2018

language of work or name

English

0 references

publication date

10 June 2011

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24 June 2018

American Journal of Medical Genetics

published in

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24 June 2018

volume

155A

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24 June 2018

issue

7

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24 June 2018

page(s)

1597-1604

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24 June 2018

Effects of dietary cholesterol and simvastatin on cholesterol synthesis in Smith-Lemli-Opitz syndrome.

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995031

De-orphaning the structural proteome through reciprocal comparison of evolutionarily important structural features

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995031

Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995031

ET viewer: an application for predicting and visualizing functional sites in protein structures

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995031

Evolutionary trace report_maker: a new type of service for comparative analysis of proteins

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995031

DHCR24 gene knockout mice demonstrate lethal dermopathy with differentiation and maturation defects in the epidermis

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995031

Congenital brain anomalies in distal cholesterol biosynthesis defects

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995031

Cholesterol supplementation does not improve developmental progress in Smith-Lemli-Opitz syndrome.

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995031

Generation of viable cholesterol-free mice

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995031

A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995031

Role of cholesterol in synapse formation and function

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995031

Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995031

Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995031

Inhibition of sonic hedgehog autoprocessing in cultured mammalian cells by sterol deprivation

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995031

The Smith-Lemli-Opitz syndrome

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995031

Clinical phenotype of desmosterolosis

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995031

Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS)

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995031

An evolutionary trace method defines binding surfaces common to protein families

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995031

An additional case of pachygyria, joint contractures and facial abnormalities

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995031

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

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995031

The relation between the divergence of sequence and structure in proteins

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995031

Glutaric aciduria type I: clinical heterogeneity and neuroradiologic features

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995031

Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome.

24 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995031

Neuroimaging aspects of Aicardi syndrome.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995031

The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): Report of eight cases including a living child and further evidence for auto

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995031

Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995031

Eventration of the diaphragm and associations.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995031

CNS synaptogenesis promoted by glia-derived cholesterol

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4995031

Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism

13 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.34040

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

21 January 2018

1 reference

12 December 2020

Linear growth of long bones of extremities from infancy through adolescence; continuing studies

1 reference

12 December 2020

1 reference

12 December 2020

Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial

1 reference

12 December 2020

Cholesterol for synthesis of myelin is made locally, not imported into brain

1 reference

12 December 2020

Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO/RSH) syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.34040

1 reference

24 June 2018

PMC publication ID

4995031

1 reference

24 June 2018

PubMed publication ID

21671375

1 reference

24 June 2018