(Q45089586)

9 December 2017

title

Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome (English)

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9 December 2017

6

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9 December 2017

4

Cheryl Maslen

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9 December 2017

Sharon Ginat

1

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9 December 2017

Kevin P Battaile

series ordinal

2

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9 December 2017

Brian C Battaile

series ordinal

3

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9 December 2017

K Michael Gibson

series ordinal

5

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9 December 2017

publication date

1 September 2004

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Molecular Genetics and Metabolism

9 December 2017

published in

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9 December 2017

volume

83

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9 December 2017

issue

1-2

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9 December 2017

page(s)

175-183

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

9 December 2017

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Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome

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

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Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype

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Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada

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

7 January 2021

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

7 January 2021

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A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

7 January 2021

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Possible abnormalities of steroid secretion in children with Smith-Lemli-Opitz syndrome and their parents

7 January 2021

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

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Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings.

7 January 2021

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

7 January 2021

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The Smith-Lemli-Opitz syndrome

7 January 2021

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

7 January 2021

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

7 January 2021

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RSH/Smith-Lemli-Opitz syndrome: mutations and metabolic morphogenesis

7 January 2021

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RSH (so-called Smith-Lemli-Opitz) syndrome

7 January 2021

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Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome.

7 January 2021

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New treatment strategy for Smith-Lemli-Opitz syndrome

7 January 2021

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Simvastatin treatment in the SLO syndrome: a safe approach?

7 January 2021

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

7 January 2021

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

7 January 2021

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7 January 2021

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Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villi

7 January 2021

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Molecular cloning and expression of the human delta7-sterol reductase

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome

7 January 2021

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

7 January 2021

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Accurate detection of Smith-Lemli-Opitz syndrome carriers by measurement of the rate of reduction of the ergosterol C-7 double bond in cultured skin fibroblasts

7 January 2021

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A simple salting out procedure for extracting DNA from human nucleated cells

7 January 2021

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Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.07.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.07.002

RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.07.002

10.1016/J.YMGME.2004.07.002

7 January 2021

Identifiers

DOI

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9 December 2017

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