Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management (Q34752094)

4 August 2017

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title

Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management (English)

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Smith-Lemli-Opitz syndrome

4 August 2017

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Forbes D Porter

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4 August 2017

publication date

20 February 2008

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European Journal of Human Genetics

4 August 2017

published in

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4 August 2017

volume

16

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4 August 2017

issue

5

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4 August 2017

page(s)

535-541

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The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome.

4 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

The Smith-Lemli-Opitz syndrome

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https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

Molecular cloning and expression of the human delta7-sterol reductase

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

Evidence for requirement of NADPH-cytochrome P450 oxidoreductase in the microsomal NADPH-sterol Delta7-reductase system

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

Cholesterol modification of hedgehog signaling proteins in animal development

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

Negative regulation of Hedgehog signaling by the cholesterogenic enzyme 7-dehydrocholesterol reductase

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

Repression of smoothened by patched-dependent (pro-)vitamin D3 secretion

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

Cholesterol Precursors Stabilize Ordinary and Ceramide-rich Ordered Lipid Domains (Lipid Rafts) to Different Degrees

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

Formation of 7-dehydrocholesterol-containing membrane rafts in vitro and in vivo, with relevance to the Smith-Lemli-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

Abnormal sterols in cholesterol-deficiency diseases cause secretory granule malformation and decreased membrane curvature

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

Differential effects of cholesterol and 7-dehydrocholesterol on the ligand binding activity of the hippocampal serotonin(1A) receptor: implications in SLOS.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblasts

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https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

Identification of 7(8) and 8(9) unsaturated adrenal steroid metabolites produced by patients with 7-dehydrosterol-delta7-reductase deficiency (Smith-Lemli-Opitz syndrome).

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

The implications of 7-dehydrosterol-7-reductase deficiency (Smith-Lemli-Opitz syndrome) to neurosteroid production

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith-Lemli-Opitz syndrome: a novel metabolic pathway.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

Simvastatin treatment in the SLO syndrome: a safe approach?

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

Levels of unconjugated estriol and other maternal serum markers in pregnancies with Smith-Lemli-Opitz (RSH) syndrome fetuses

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https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

Midgestational maternal urine steroid markers of fetal Smith-Lemli-Opitz (SLO) syndrome (7-dehydrocholesterol 7-reductase deficiency).

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS)

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https://api.crossref.org/works/10.1038%2FEJHG.2008.10

7 January 2021

Identifiers

DOI

10.1038/EJHG.2008.10

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4 August 2017

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