Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis. (Q35882433)

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14 October 2019

title

Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554047%20AND%20SRC:MED&resulttype=core&format=json

Niemann–Pick disease, type C

14 October 2019

main subject

1 reference

Vanier MT

1

1 reference

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14 October 2019

Duthel S

2

1 reference

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14 October 2019

Rodriguez-Lafrasse C

3

1 reference

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14 October 2019

Pentchev P

4

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14 October 2019

Carstea ED

5

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14 October 2019

language of work or name

English

0 references

publication date

1 January 1996

1 reference

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American Journal of Human Genetics

14 October 2019

published in

1 reference

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14 October 2019

volume

58

1 reference

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14 October 2019

issue

1

1 reference

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14 October 2019

page(s)

118-125

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Linkage of Niemann-Pick disease type C to human chromosome 18

14 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914948

The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol

27 July 2018

1 reference

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Regulation of low density lipoprotein receptor and 3-hydroxy-3-methyl-glutaryl-CoA reductase activities are differentially affected in Niemann-Pick type C and type D fibroblasts.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914948

A single ataxia telangiectasia gene with a product similar to PI-3 kinase

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914948

A method for enrichment of hybrid somatic cells: complementation studies in certain lysosomal enzymopathies

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914948

Fetal ascites: an unusual presentation of Niemann-Pick disease type C

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914948

Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914948

Isolation and characterization of Chinese hamster ovary cell mutants defective in intracellular low density lipoprotein-cholesterol trafficking

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914948

A fatal respiratory form of type C Niemann-Pick disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914948

Type C Niemann-Pick disease: cellular uncoupling of cholesterol homeostasis is linked to the severity of disruption in the intracellular transport of exogenously derived cholesterol.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914948

Type C Niemann-Pick Disease: Biochemical Aspects and Phenotypic Heterogeneity

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914948

Chromosomal assignment of 46 brain cDNAs

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914948

Isolation and characterization of Chinese hamster ovary cells defective in the intracellular metabolism of low density lipoprotein-derived cholesterol

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914948

A second-generation linkage map of the human genome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914948

Complementation studies in Niemann-Pick disease type C indicate the existence of a second group

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914948

Abnormal cholesterol metabolism in imipramine-treated fibroblast cultures. Similarities with Niemann-Pick type C disease

24 September 2018

1 reference

12 December 2020

Cholesterol esterification and Niemann-Pick disease: an approach to identifying the defect in fibroblasts

1 reference

12 December 2020

Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing

1 reference

12 December 2020

A microsatellite genetic linkage map of human chromosome 18

1 reference

12 December 2020

A second complementation class of cholesterol transport mutants with a variant Niemann-Pick type C phenotype

1 reference

12 December 2020

19 Receptor-mediated endocytosis of low-density lipoprotein in cultured cells

1 reference

12 December 2020

Biochemical studies in Niemann-Pick disease. I. Major sphingolipids of liver and spleen

1 reference

12 December 2020

Biochemical studies in Niemann-Pick disease. III. In vitro and in vivo assays of sphingomyelin degradation in cultured skin fibroblasts and amniotic fluid cells for the diagnosis of the various forms of the disease

1 reference

12 December 2020

[Type C Niemann-Pick disease in 2 siblings. Biochemical bases of its diagnosis]

1 reference

12 December 2020

Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8554047%20AND%20SRC:MED&resulttype=core&format=json

14 October 2019

PubMed publication ID

8554047

1 reference