(Q35881946)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755931%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

title

Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755931%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

1 reference

1 reference

Benlian P

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755931%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

Foubert L

2

1 reference

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18 October 2019

Gagné E

3

1 reference

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18 October 2019

Bernard L

4

1 reference

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18 October 2019

De Gennes JL

5

1 reference

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18 October 2019

Langlois S

6

1 reference

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18 October 2019

Robinson W

7

1 reference

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18 October 2019

Hayden M

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755931%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

language of work or name

English

0 references

publication date

1 August 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755931%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

18 October 2019

published in

1 reference

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18 October 2019

volume

59

1 reference

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18 October 2019

issue

2

1 reference

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18 October 2019

page(s)

431-436

1 reference

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Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis

18 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=1914726

Nondisjunction of chromosome 15: origin and recombination

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914726

Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914726

Trisomy 18: studies of the parent and cell division of origin and the effect of aberrant recombination on nondisjunction

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914726

Molecular studies of chromosomal mosaicism: relative frequency of chromosome gain or loss and possible role of cell selection.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914726

Quantitative determination of serum triglycerides by the use of enzymes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914726

Human adipose tissue lipoprotein lipase: changes with feeding and relation to postheparin plasma enzyme

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914726

Human genes involved in lipolysis of plasma lipoproteins: mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914726

Direct detection and automated sequencing of individual alleles after electrophoretic strand separation: identification of a common nonsense mutation in exon 9 of the human lipoprotein lipase gene

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914726

Genomic imprinting: review and relevance to human diseases.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914726

Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B100

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914726

Tetranucleotide repeat polymorphism in the LPL gene

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914726

A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914726

Beckwith-Wiedemann syndrome, tumourigenesis and imprinting

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914726

Heparin--Mn2+ quantitation of high-density-lipoprotein cholesterol: an ultrafiltration procedure for lipemic samples

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914726

[Uniparental disomy: a review of causes and clinical sequelae]

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914726

A PCR method for accurate assessment of trinucleotide repeat expansion in Huntington disease

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914726

Genetic imprinting in the mouse: implications for gene regulation.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914726

Homozygous deletion of exon 9 causes lipoprotein lipase deficiency: possible intron-Alu recombination.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914726

Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914726

Detection of three separate DNA polymorphisms in the human lipoprotein lipase gene by gene amplification and restriction endonuclease digestion

14 November 2018

1 reference

12 December 2020

Support for founder effect for two lipoprotein lipase (LPL) gene mutations in French Canadians by analysis of GT microsatellites flanking the LPL gene

1 reference

12 December 2020

Analysis of DNA changes in the LPL gene in patients with familial combined hyperlipidemia

1 reference

12 December 2020

Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation

1 reference

12 December 2020

Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana

1 reference

12 December 2020

Enzymatic determination of total serum cholesterol

1 reference

12 December 2020

Detection and characterization of the heterozygote state for lipoprotein lipase deficiency

1 reference

12 December 2020

Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI

1 reference

12 December 2020

Molecular studies of translocations and trisomy involving chromosome 13

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755931%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

1 reference