Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome. (Q35446554)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15286151%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

title

Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome (English)

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31 December 2019

6

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author name string

Witsch-Baumgartner M

1

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31 December 2019

Gruber M

2

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31 December 2019

Kraft HG

3

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31 December 2019

Rossi M

4

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31 December 2019

Clayton P

5

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31 December 2019

Haas D

7

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31 December 2019

Kelley RI

8

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31 December 2019

Krajewska-Walasek M

9

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31 December 2019

Utermann G

10

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31 December 2019

language of work or name

English

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publication date

1 August 2004

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Journal of Medical Genetics

31 December 2019

published in

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31 December 2019

volume

41

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31 December 2019

issue

8

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page(s)

577-584

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A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

31 December 2019

cites work

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Modifier genes in mice and humans

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The Smith-Lemli-Opitz syndrome

12 July 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

12 July 2018

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Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome.

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

12 July 2018

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

12 July 2018

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

12 July 2018

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Cholesterol metabolism and embryogenesis

12 July 2018

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Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism

12 July 2018

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Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

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Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function

12 July 2018

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Apolipoprotein E alleles as risk factors in Alzheimer's disease

12 July 2018

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Defective forebrain development in mice lacking gp330/megalin

12 July 2018

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

12 July 2018

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Knockout of the mouse apolipoprotein B gene results in embryonic lethality in homozygotes and protection against diet-induced hypercholesterolemia in heterozygotes

12 July 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

12 July 2018

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Apolipoprotein E polymorphism in health and disease

12 July 2018

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12 July 2018

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Polymorphism of apolipoprotein E influences levels of serum apolipoproteins E and B in the human neonate

12 July 2018

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12 July 2018

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12 July 2018

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26 September 2018

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26 September 2018

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Expression of mouse alpha-macroglobulins, lipoprotein receptor-related protein, LDL receptor, apolipoprotein E, and lipoprotein lipase in pregnancy

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15286151

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Maternal high density lipoproteins affect fetal mass and extra-embryonic fetal tissue sterol metabolism in the mouse

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15286151

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Transport of maternal LDL and HDL to the fetal membranes and placenta of the Golden Syrian hamster is mediated by receptor-dependent and receptor-independent processes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15286151

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2004.018085

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15286151%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15286151%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

1 reference