(Q34688448)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17873648%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

review article

1 reference

title

Structural variation in the human genome: the impact of copy number variants on clinical diagnosis (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17873648%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17873648%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Carla Rosenberg

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17873648%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

author name string

Laia Rodriguez-Revenga

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17873648%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Allen Lamb

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17873648%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Charles Lee

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17873648%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

language of work or name

English

0 references

publication date

1 September 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17873648%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17873648%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

volume

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17873648%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

page(s)

600-606

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17873648%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17873648%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1097/gim.0b013e318149e1e3

7 January 2020

exact match

0 references

cites work

Directly transmitted unbalanced chromosome abnormalities and euchromatic variants

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Detection of large-scale variation in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318149E1E3

Large-scale copy number polymorphism in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318149E1E3

Copy number variation: new insights in genome diversity

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318149E1E3

Structural variation in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E318149E1E3

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

21 January 2018

1 reference

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A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

21 January 2018

1 reference

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Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

21 January 2018

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Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome.

21 January 2018

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Global variation in copy number in the human genome

21 January 2018

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Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays

21 January 2018

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Accurate and reliable high-throughput detection of copy number variation in the human genome

21 January 2018

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Identification of frequent chromosome copy-number polymorphisms by use of high-resolution single-nucleotide-polymorphism arrays

21 January 2018

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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

21 January 2018

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Mammalian ultraconserved elements are strongly depleted among segmental duplications and copy number variants

21 January 2018

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

21 January 2018

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The functions of animal microRNAs

21 January 2018

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A microRNA cluster as a target of genomic amplification in malignant lymphoma.

21 January 2018

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Frequent deletions and down-regulation of micro- RNA genes miR15 and miR16 at 13q14 in chronic lymphocytic leukemia

21 January 2018

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MicroRNA profiling reveals distinct signatures in B cell chronic lymphocytic leukemias

21 January 2018

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Common deletion polymorphisms in the human genome.

21 January 2018

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

21 January 2018

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Long-range control of gene expression: emerging mechanisms and disruption in disease

21 January 2018

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Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.

21 January 2018

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Fine-scale structural variation of the human genome

21 January 2018

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Genome assembly comparison identifies structural variants in the human genome.

21 January 2018

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Completing the map of human genetic variation

21 January 2018

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

21 January 2018

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Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome

21 January 2018

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Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation

21 January 2018

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Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

21 January 2018

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Array-based comparative genomic hybridization for investigating chromosomal abnormalities in patients with learning disability: systematic review meta-analysis of diagnostic and false-positive yields

21 January 2018

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High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays

21 January 2018

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Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

21 January 2018

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Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

21 January 2018

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Diagnostic genome profiling in mental retardation

21 January 2018

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Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

21 January 2018

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Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

21 January 2018

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Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation.

21 January 2018

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Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases.

21 January 2018

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Strong association of de novo copy number mutations with autism

21 January 2018

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Mapping autism risk loci using genetic linkage and chromosomal rearrangements

21 January 2018

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Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants?

21 January 2018

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

21 January 2018

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Population stratification of a common APOBEC gene deletion polymorphism

21 January 2018

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Molecular mechanisms for constitutional chromosomal rearrangements in humans

21 January 2018

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Megabase deletions of gene deserts result in viable mice

21 January 2018

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Common deletions and SNPs are in linkage disequilibrium in the human genome

21 January 2018

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