(Q44132732)

30 November 2017

title

Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient (English)

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Smith-Lemli-Opitz syndrome

30 November 2017

main subject

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Judith Loeffler

1

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30 November 2017

Gerd Utermann

series ordinal

2

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30 November 2017

Martina Witsch-Baumgartner

series ordinal

3

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30 November 2017

publication date

1 September 2002

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30 November 2017

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30 November 2017

volume

22

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issue

9

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30 November 2017

page(s)

827-830

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Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols.

30 November 2017

cites work

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

21 January 2018

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Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.

21 January 2018

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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

21 January 2018

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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

21 January 2018

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

21 January 2018

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Smith-Lemli-Opitz syndrome: prenatal diagnosis by quantification of cholesterol precursors in amniotic fluid.

21 January 2018

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Dehydro-oestriol and dehydropregnanetriol are candidate analytes for prenatal diagnosis of Smith-Lemli-Opitz syndrome

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Mutations in the human DHCR7 gene

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/PD.419

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30 November 2017

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