(Q34652997)

3 August 2017

1 reference

title

Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability (English)

1 reference

Xavier Estivill i Pallejà

3 August 2017

series ordinal

2

1 reference

PubMed ID

17637735

3 August 2017

Stilianos Antonarakis

series ordinal

3

1 reference

3 August 2017

Jacques S Beckmann

1

0 references

publication date

1 August 2007

1 reference

3 August 2017

Nature Reviews Genetics

1 reference

3 August 2017

8

1 reference

3 August 2017

639-646

1 reference

3 August 2017

8

1 reference

https://scigraph.springernature.com/pub.10.1038/nrg2149

3 August 2017

0 references

cites work

Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation

1 reference

A highly polymorphic locus in human DNA

31 March 2020

1 reference

Hypervariable 'minisatellite' regions in human DNA.

31 March 2020

1 reference

Individual-specific ‘fingerprints’ of human DNA

31 March 2020

1 reference

Variable number of tandem repeat (VNTR) markers for human gene mapping

31 March 2020

1 reference

Hypervariabflity of simple sequences as a general source for polymorphic DNA markers

31 March 2020

1 reference

Use of variable simple sequence motifs as genetic markers: application to study of myotonic dystrophy

31 March 2020

1 reference

Report of the DNA committee and catalogues of cloned and mapped genes and DNA polymorphisms

31 March 2020

1 reference

The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome

31 March 2020

1 reference

Large restriction fragments containing poly-TG are highly polymorphic in a variety of vertebrates

31 March 2020

1 reference

Survey of human and rat microsatellites.

31 March 2020

1 reference

A second-generation linkage map of the human genome

31 March 2020

1 reference

A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC)

31 March 2020

1 reference

The 1993-94 Généthon human genetic linkage map

31 March 2020

1 reference

A comprehensive genetic map of the human genome based on 5,264 microsatellites

31 March 2020

1 reference

A haplotype map of the human genome

31 March 2020

1 reference

Single nucleotide polymorphism array analysis of cancer.

31 March 2020

1 reference

Isolates and their potential use in complex gene mapping efforts

31 March 2020

1 reference

31 March 2020

1 reference

Uniparental disomy revisited: the first twelve years

31 March 2020

1 reference

Parental origin of the extra chromosome in trisomy 21 as indicated by analysis of DNA polymorphisms. Down Syndrome Collaborative Group

31 March 2020

1 reference

Complement factor H polymorphism and age-related macular degeneration

31 March 2020

1 reference

A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration

31 March 2020

1 reference

Complement factor H variant increases the risk of age-related macular degeneration

31 March 2020

1 reference

Complement factor H polymorphism in age-related macular degeneration

31 March 2020

1 reference

A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes

31 March 2020

1 reference

A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region

31 March 2020

1 reference

Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes

31 March 2020

1 reference

A genome-wide association study identifies novel risk loci for type 2 diabetes

31 March 2020

1 reference

A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants

31 March 2020

1 reference

Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes

31 March 2020

1 reference

Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels

31 March 2020

1 reference

A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity

31 March 2020

1 reference

Variation in FTO contributes to childhood obesity and severe adult obesity

31 March 2020

1 reference

A common variant on chromosome 9p21 affects the risk of myocardial infarction

31 March 2020

1 reference

A common allele on chromosome 9 associated with coronary heart disease

31 March 2020

1 reference

Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24.

31 March 2020

1 reference

Compelling evidence for a prostate cancer gene at 22q12.3 by the International Consortium for Prostate Cancer Genetics

31 March 2020

1 reference

A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer

31 March 2020

1 reference

Genome-wide association study identifies novel breast cancer susceptibility loci

31 March 2020

1 reference

Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer

31 March 2020

1 reference

Triplicated alpha-globin loci in humans

31 March 2020

1 reference

Deletion of alpha-globin genes in haemoglobin-H disease demonstrates multiple alpha-globin structural loci

31 March 2020

1 reference

Tandem array of human visual pigment genes at Xq28

31 March 2020

1 reference

Molecular patterns of X chromosome-linked color vision genes among 134 men of European ancestry

31 March 2020

1 reference

Structure of chromosomal duplicons and their role in mediating human genomic disorders

31 March 2020

1 reference

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

31 March 2020

1 reference

Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders

31 March 2020

1 reference

Detection of large-scale variation in the human genome

31 March 2020

1 reference

Large-scale copy number polymorphism in the human genome

31 March 2020

1 reference

Global variation in copy number in the human genome

31 March 2020

1 reference

A comprehensive analysis of common copy-number variations in the human genome

31 March 2020

1 reference

Chemical characterization of element 112

31 March 2020

1 reference

Array-based comparative genomic hybridization and copy number variation in cancer research.

31 March 2020

1 reference

Copy number variation: new insights in genome diversity

31 March 2020

1 reference

Genome assembly comparison identifies structural variants in the human genome.

31 March 2020

1 reference

Structural variation in the human genome

31 March 2020

1 reference

Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans

31 March 2020

1 reference

Mendelian disorders deserve more attention

31 March 2020

1 reference

Structural variants: changing the landscape of chromosomes and design of disease studies

31 March 2020

1 reference

Identification of disease genes by whole genome CGH arrays

31 March 2020

1 reference

Relative impact of nucleotide and copy number variation on gene expression phenotypes

31 March 2020

1 reference

Systematic review and meta-analysis of the association between complement factor H Y402H polymorphisms and age-related macular degeneration

31 March 2020

1 reference

A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration

31 March 2020

1 reference

The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts

31 March 2020

1 reference

Chromosome 21 and down syndrome: from genomics to pathophysiology

31 March 2020

1 reference

Molecular mechanisms for CMT1A duplication and HNPP deletion

31 March 2020

1 reference

alpha-Synuclein locus triplication causes Parkinson's disease

31 March 2020

1 reference

Hereditary pancreatitis caused by triplication of the trypsinogen locus

31 March 2020

1 reference

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

31 March 2020

1 reference

Regulatory polymorphisms underlying complex disease traits

31 March 2020

1 reference

From DNA to RNA to disease and back: the 'central dogma' of regulatory disease variation

31 March 2020

1 reference

The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility

31 March 2020

1 reference

FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity

31 March 2020

1 reference

Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European A

31 March 2020

1 reference

A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon

31 March 2020

1 reference

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

31 March 2020

1 reference

Copy number variants and pharmacogenomics

31 March 2020

1 reference

Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome

31 March 2020

1 reference

Molecular mechanisms for genomic disorders

31 March 2020

1 reference

Strong association of de novo copy number mutations with autism

31 March 2020

1 reference

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

31 March 2020

1 reference

Measurement of locus copy number by hybridisation with amplifiable probes

31 March 2020

1 reference

MLPA and MAPH: new techniques for detection of gene deletions

31 March 2020

1 reference

Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation.

31 March 2020

1 reference

Common deletion polymorphisms in the human genome.

31 March 2020

1 reference

A worldwide survey of haplotype variation and linkage disequilibrium in the human genome

31 March 2020

1 reference

Genomic rearrangements and sporadic disease

31 March 2020

1 reference

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

31 March 2020

1 reference

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7 January 2021

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Identifiers

DOI

10.1038/NRG2149

1 reference

PubMed ID

17637735

Dimensions Publication ID

3 August 2017

0 references

1 reference

PubMed ID

17637735