Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype (Q33680984)

28 July 2017

title

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

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Smith-Lemli-Opitz syndrome

28 July 2017

main subject

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8

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28 July 2017

A K Ryan

1

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28 July 2017

K Bartlett

2

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28 July 2017

P Clayton

3

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28 July 2017

S Eaton

4

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28 July 2017

L Mills

5

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28 July 2017

D Donnai

6

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28 July 2017

R M Winter

7

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28 July 2017

language of work or name

English

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publication date

1 July 1998

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

35

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28 July 2017

issue

7

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28 July 2017

page(s)

558-565

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A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

28 July 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051366

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051366

Cardiovascular malformations in 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=1051366

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=1051366

Defective cholesterol biosynthesis associated with 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=1051366

Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: probable disruption of an SLOS 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=1051366

RSH/SLO ("Smith-Lemli-Opitz") syndrome: historical, genetic, and developmental considerations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051366

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051366

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051366

Female external genitalia and müllerian duct derivatives in a 46,XY infant with 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=1051366

Apparent Smith-Lemli-Opitz syndrome and Miller-Dieker syndrome in a family with segregating translocation t(7;17)(q34;p13.1).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051366

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=1051366

Phenotypic diversity in 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=1051366

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051366

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051366

Defective cholesterol biosynthesis 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=1051366

Borderline normal intelligence in the Smith-Lemli-Opitz (RSH) 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=1051366

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

30 October 2018

1 reference

12 December 2020

Direct analysis of filter paper blood specimens for identification of Smith-Lemli-Opitz syndrome using time-of-flight secondary ion mass spectrometry

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

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

1 reference

12 December 2020

Prenatal diagnosis of Smith-Lemli-Opitz syndrome, type II

1 reference

12 December 2020

Unusual case of Smith-Lemli-Opitz syndrome "type II"

1 reference

12 December 2020

Prenatal diagnosis of Smith-Lemli-Optiz syndrome

1 reference

12 December 2020

Prenatal diagnosis of Smith-Lemli-Opitz syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Defective conversion of 7-dehydrocholesterol to cholesterol in cultured skin fibroblasts from Smith-Lemli-Opitz syndrome homozygotes

1 reference

12 December 2020

First trimester prenatal diagnosis of Smith-Lemli-Opitz syndrome (7-dehydrocholesterol reductase deficiency)

1 reference

12 December 2020

Desmosterolosis: a new inborn error of cholesterol biosynthesis

1 reference

12 December 2020

A new face for an old syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.35.7.558

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release_gihdnjqou5exla5drzc7nhzpwu

28 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/gihdnjqou5exla5drzc7nhzpwu

24 November 2022

mapped directly with Wikidata item

PMC publication ID

1051366

1 reference

28 July 2017

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