Molecular spectrum of autosomal dominant hypercholesterolemia in France (Q35153026)

6 August 2017

Molecular spectrum of autosomal dominant hypercholesterolemia in France (English)

1 reference

6 August 2017

0 references

10

0 references

Jean-Pierre Rabès

Jean-Pierre Rabès

15

0 references

Mathilde Varret

Mathilde Varret

14

0 references

Catherine Boileau

Catherine Boileau

13

0 references

Marianne Abifadel

8

Marianne Abifadel

1 reference

6 August 2017

11

Claudine Junien

1 reference

6 August 2017

4

Martine Devillers

1 reference

6 August 2017

7

Danièle Erlich

1 reference

6 August 2017

Alice Marques-Pinheiro

9

Alice Marques-Pinheiro

1 reference

6 August 2017

2

Alain Carrié

1 reference

6 August 2017

5

Valérie Carreau

1 reference

6 August 2017

6

Mathilde Di Filippo

1 reference

6 August 2017

Marie Marduel

1

1 reference

6 August 2017

Agnes Sassolas

3

1 reference

6 August 2017

French ADH Research Network

12

1 reference

6 August 2017

1 November 2010

1 reference

6 August 2017

1 reference

6 August 2017

31

1 reference

6 August 2017

E1811-24

1 reference

6 August 2017

11

1 reference

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

6 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152176

Genetic heterogeneity of autosomal dominant hypercholesterolemia.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152176

Catalytic activity is not required for secreted PCSK9 to reduce low density lipoprotein receptors in HepG2 cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152176

Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152176

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152176

The UMD-LDLR database: additions to the software and 490 new entries to the database.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152176

Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152176

R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152176

Identification of a novel sterol-independent regulatory element in the human low density lipoprotein receptor promoter

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152176

Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152176

Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152176

Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152176

Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152176

Finnish type of low density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152176

Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152176

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152176

What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia?

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152176

Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152176

Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a Sout

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152176

Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152176

Familial ligand-defective apolipoprotein B-100: simultaneous detection of the ARG3500-->GLN and ARG3531-->CYS mutations in a French population

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152176

Differences in the phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152176

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152176

Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia

16 November 2018

1 reference

12 December 2020

Three direct repeats and a TATA-like sequence are required for regulated expression of the human low density lipoprotein receptor gene

1 reference

12 December 2020

Identification of a novel cis-acting element participating in maximal induction of the human low density lipoprotein receptor gene transcription in response to low cellular cholesterol levels

1 reference

12 December 2020

A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing

1 reference

12 December 2020

Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform

1 reference

12 December 2020

Identifiers

DOI

10.1002/HUMU.21348

1 reference

6 August 2017

1 reference

6 August 2017

1 reference