Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation (Q36802138)

16 August 2017

Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation (English)

1 reference

Dominique Bonnefont-Rousselot

16 August 2017

0 references

4

Dominique Bonnefont-Rousselot

0 references

Nathan O Stitziel

Nathan Stitziel

13

0 references

Jean-Pierre Rabès

Jean-Pierre Rabès

20

0 references

Mathilde Varret

Mathilde Varret

22

0 references

Catherine Boileau

Catherine Boileau

21

0 references

Sekar Kathiresan

18

Sekar Kathiresan

1 reference

16 August 2017

17

Marianne Abifadel

1 reference

16 August 2017

2

Khadija Ouguerram

1 reference

16 August 2017

7

Martine Devillers

1 reference

16 August 2017

11

Danièle Erlich

1 reference

16 August 2017

Alice Marques-Pinheiro

5

Alice Marques-Pinheiro

1 reference

16 August 2017

15

Jean-Philippe Jaïs

1 reference

French Research Network on ADH

16 August 2017

16

French Research Network on ADH

1 reference

16 August 2017

8

Gérald Luc

1 reference

16 August 2017

10

Laurent Tosolini

1 reference

16 August 2017

Marie Marduel

1

1 reference

16 August 2017

Valérie Serre

3

1 reference

16 August 2017

Knut Erik Berge

6

1 reference

16 August 2017

Jean-Michel Lecerf

9

1 reference

16 August 2017

Gina M Peloso

12

1 reference

16 August 2017

Patrick Nitchké

14

1 reference

16 August 2017

Trond Paul Leren

19

1 reference

16 August 2017

language of work or name

1 reference

11 October 2012

1 reference

16 August 2017

1 reference

16 August 2017

34

1 reference

16 August 2017

1

1 reference

16 August 2017

83-87

1 reference

Molecular spectrum of autosomal dominant hypercholesterolemia in France

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638718

A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638718

Effect of apolipoprotein E genotype on apolipoprotein B-100 metabolism in normolipidemic and hyperlipidemic subjects

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638718

Apolipoprotein E structure: insights into function.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638718

Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638718

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638718

Apolipoprotein E polymorphism and cardiovascular disease: a HuGE review

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638718

Genetic determinants of plasma triglycerides: impact of rare and common mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638718

Pathogenesis of type III hyperlipoproteinemia (dysbetalipoproteinemia). Questions, quandaries, and paradoxes.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638718

Characterization of five new mutants in the carboxyl-terminal domain of human apolipoprotein E: no cosegregation with severe hyperlipidemia.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638718

Sea blue histiocytosis associated with hyperlipoproteinemia type IIb.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638718

Abnormal lipoprotein receptor-binding activity of the human E apoprotein due to cysteine-arginine interchange at a single site

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638718

The spleen in type I hyperlipoproteinemia. Histochemical, biochemical, microfluorometric and electron microscopic observations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638718

Sea-blue histiocytosis in hyperlipoproteinemia (cytomorphological, clinical and pathogenetic aspects).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638718

Ceroid histiocytosis of the spleen in hyperlipemia: relationship to the syndrome of the sea-blue histiocyte

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638718

Sea-blue histiocytosis associated with hyperlipidaemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638718

Cholesterol ester storage disease in an adult presenting with sea-blue histiocytosis.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638718

Two apolipoprotein E5 variants illustrate the importance of the position of additional positive charge on receptor-binding activity

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638718

Niemann-Pick disease, type B with TRAP-positive storage cells and secondary sea blue histiocytosis

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638718

Splenomegaly with sea-blue histiocytosis, dyslipidemia, and nephropathy in a patient with lecithin-cholesterol acyltransferase deficiency: a clinicopathologic correlation.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638718

Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638718

High expression of CEACAM6 and CEACAM8 mRNA in acute lymphoblastic leukemias.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638718

The composition, structural properties and binding of very-low-density and low-density lipoproteins to the LDL receptor in normo- and hypertriglyceridemia: relation to the apolipoprotein E phenotype

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638718

Niemann-Pick disease type C--a neurometabolic disease through disturbed intracellular lipid transport

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638718

Effect of atorvastatin on apolipoprotein B100 containing lipoprotein metabolism in type-2 diabetes

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638718

Familial splenomegaly: macrophage hypercatabolism of lipoproteins associated with apolipoprotein E mutation [apolipoprotein E (delta149 Leu)].

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638718

Chronic Reticuloendothelial Cell Storage Disease

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3638718

Objectives, Design and Recruitment of a Familial and Longitudinal Cohort for Studying Gene-Environment Interactions in the Field of Cardiovascular Risk: The Stanislas Cohort

20 October 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.22215

Apolipoprotein E gene mutations in subjects with mixed hyperlipidemia and a clinical diagnosis of familial combined hyperlipidemia

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.22215

A presumptive new locus for autosomal dominant hypercholesterolemia mapping to 8q24.22

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22949395

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Niemann-Pick disease, type B with TRAP-positive storage cells and secondary sea blue histiocytosis.

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.22215

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.22215

1 reference

16 August 2017

1 reference

16 August 2017

PubMed publication ID

22949395

1 reference