(Q37682292)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20105165%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

review article

1 reference

title

The impact of human copy number variation on a new era of genetic testing (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20105165%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20105165%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

author name string

K W Choy

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20105165%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

S R Setlur

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20105165%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

C Lee

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20105165%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

publication date

26 January 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20105165%20AND%20SRC:MED&resulttype=core&format=json

BJOG: an International Journal of Obstetrics and Gynaecology

17 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20105165%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

volume

117

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20105165%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

page(s)

391-398

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20105165%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20105165%20AND%20SRC:MED&resulttype=core&format=json

Challenges and standards in integrating surveys of structural variation

17 January 2020

cites work

1 reference

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Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2-year multi-center retrospective study and review of the literature

21 January 2018

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International, collaborative assessment of 146,000 prenatal karyotypes: expected limitations if only chromosome-specific probes and fluorescent in-situ hybridization are used.

21 January 2018

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Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR.

21 January 2018

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Copy-number variation and association studies of human disease

21 January 2018

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Detection of large-scale variation in the human genome

21 January 2018

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Large-scale copy number polymorphism in the human genome

21 January 2018

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Fine-scale structural variation of the human genome

21 January 2018

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Common deletion polymorphisms in the human genome.

21 January 2018

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Global variation in copy number in the human genome

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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Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies

21 January 2018

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De novo 16p13.11 microdeletion identified by high-resolution array CGH in a fetus with increased nuchal translucency.

21 January 2018

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Prenatal detection of unbalanced chromosomal rearrangements by array CGH.

21 January 2018

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Evolution of prenatal genetics: from point mutation testing to chromosomal microarray analysis

21 January 2018

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Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

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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Copy number variation: new insights in genome diversity

21 January 2018

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Integrated detection and population-genetic analysis of SNPs and copy number variation

21 January 2018

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

21 January 2018

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Germ-line DNA copy number variation frequencies in a large North American population

21 January 2018

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Copy number variants, diseases and gene expression

21 January 2018

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

21 January 2018

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Molecular mechanisms for constitutional chromosomal rearrangements in humans

21 January 2018

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A microhomology-mediated break-induced replication model for the origin of human copy number variation

21 January 2018

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Mechanisms of change in gene copy number

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-0528.2009.02470.X

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

21 January 2018

1 reference

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Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles

21 January 2018

1 reference

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Major changes in our DNA lead to major changes in our thinking

21 January 2018

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Systematic assessment of copy number variant detection via genome-wide SNP genotyping

21 January 2018

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Copy-number variation in control population cohorts

21 January 2018

1 reference

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Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-0528.2009.02470.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-0528.2009.02470.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-0528.2009.02470.X

CCL3L1 gene-containing segmental duplications and polymorphisms in CCR5 affect risk of systemic lupus erythaematosus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-0528.2009.02470.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-0528.2009.02470.X

alpha-Synuclein locus triplication causes Parkinson's disease

21 January 2018

1 reference

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Alpha-synuclein locus duplication as a cause of familial Parkinson's disease

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-0528.2009.02470.X

Psoriasis is associated with increased beta-defensin genomic copy number

21 January 2018

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Strong association of de novo copy number mutations with autism

21 January 2018

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Rare chromosomal deletions and duplications increase risk of schizophrenia

21 January 2018

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Large recurrent microdeletions associated with schizophrenia

21 January 2018

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

21 January 2018

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Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay.

21 January 2018

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Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation.

21 January 2018

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Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16

21 January 2018

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

21 January 2018

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Copy number variation at 1q21.1 associated with neuroblastoma

21 January 2018

1 reference

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Copy number variant in the candidate tumor suppressor gene MTUS1 and familial breast cancer risk

21 January 2018

1 reference

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Deletion polymorphism of UDP-glucuronosyltransferase 2B17 and risk of prostate cancer in African American and Caucasian men

21 January 2018

1 reference

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Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-0528.2009.02470.X

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-0528.2009.02470.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-0528.2009.02470.X

Subtle chromosomal rearrangements in children with unexplained mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-0528.2009.02470.X

Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-0528.2009.02470.X

Diagnosing idiopathic learning disability: a cost-effectiveness analysis of microarray technology in the National Health Service of the United Kingdom.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-0528.2009.02470.X

Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-0528.2009.02470.X

THE APPLICATION OF MICROARRAY BASED COMPARATIVE GENOMIC HYBRIDIZATION IN PRENATAL DIAGNOSIS

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-0528.2009.02470.X