(Q33642312)

28 July 2017

title

Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia (English)

1 reference

familial hypercholesterolemia

28 July 2017

0 references

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1 reference

Jirí Fajkus

7

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author name string

Radan Goldmann

1

1 reference

28 July 2017

Lukás Tichý

2

1 reference

28 July 2017

Tomás Freiberger

3

1 reference

28 July 2017

Petra Zapletalová

4

1 reference

28 July 2017

Ondrej Letocha

5

1 reference

28 July 2017

Vladimír Soska

6

1 reference

28 July 2017

Lenka Fajkusová

8

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28 July 2017

publication date

27 July 2010

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28 July 2017

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28 July 2017

volume

11

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28 July 2017

page(s)

115

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Mapping insertions, deletions and SNPs on Venter's chromosomes

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923121

Efficacy of statins in familial hypercholesterolaemia: a long term cohort study

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923121

Small deletion variants have stable breakpoints commonly associated with alu elements.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923121

The fine-scale and complex architecture of human copy-number variation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923121

Paired-end mapping reveals extensive structural variation in the human genome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923121

Saccharomyces cerevisiae Sae2- and Tel1-dependent single-strand DNA formation at DNA break promotes microhomology-mediated end joining

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923121

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=2923121

Human subtelomeres are hot spots of interchromosomal recombination and segmental duplication

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923121

Guidelines for the diagnosis and management of heterozygous 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=2923121

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923121

A review on the diagnosis, natural history, and treatment of 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=2923121

Recently integrated human Alu repeats: finding needles in the haystack

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923121

Homologous and nonhomologous recombination resulting in deletion: effects of p53 status, microhomology, and repetitive DNA length and orientation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923121

Alu repeats and human disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923121

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923121

Standardized nomenclature for Alu repeats.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923121

RNA polymerase III. Genes, factors and transcriptional specificity.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923121

Analysis of transcription of the human Alu family ubiquitous repeating element by eukaryotic RNA polymerase III

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923121

Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination 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=2923121

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=2923121

Clustering and subfamily relationships of the Alu family in the human genome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923121

Deletion of exon encoding cysteine-rich repeat of low density lipoprotein receptor alters its binding specificity 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=2923121

Polymorphism and evolution of Alu sequences in the human low density lipoprotein receptor gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923121

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=2923121

The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane 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=2923121

Evolution of the master Alu gene(s)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923121

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=2923121

Reductions in all-cause, cancer, and coronary mortality in statin-treated patients with heterozygous familial hypercholesterolaemia: a prospective registry study

28 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-115

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-115

Nonviral retroposons: genes, pseudogenes, and transposable elements generated by the reverse flow of genetic information

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-115

Potential Gene Conversion and Source Genes for Recently Integrated Alu Elements

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-115

Ionizing radiation and restriction enzymes induce microhomology-mediated illegitimate recombination in Saccharomyces cerevisiae

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-115

Comparison of genetic versus clinical diagnosis in familial hypercholesterolemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-115

Two novel partial deletions of LDL-receptor gene in Italian patients with familial hypercholesterolemia (FH Siracusa and FH Reggio Emilia).

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-115

Large rearrangements of the LDL receptor gene and lipid profile in a FH Spanish population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-115

Update of the molecular basis of familial hypercholesterolemia in The Netherlands

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-115

Identification of deletions and duplications in the low density lipoprotein receptor gene by MLPA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-115

Low-density lipoprotein receptor genotype and response to pravastatin in children with familial hypercholesterolemia: substudy of an intima-media thickness trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-115

Enrichment for Histone H3 Lysine 9 Methylation at Alu Repeats in Human Cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-115

Epigenetic nucleosomes: Alu sequences and CG as nucleosome positioning element

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-115

Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-115

Methylation of endogenous human retroelements in health and disease.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2923121

The molecular basis of familial hypercholesterolemia in The Netherlands

30 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification and characterization of LDL receptor gene mutations in hyperlipidemic Chinese

1 reference

12 December 2020

Characterization of three mutations of the low density lipoprotein receptor gene in Italian patients with familial hypercholesterolemia

1 reference

12 December 2020

Four novel partial deletions of LDL-receptor gene in Italian patients with familial hypercholesterolemia

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2350-11-115

1 reference

Dimensions Publication ID

28 July 2017

0 references

1 reference

28 July 2017

1 reference