(Q47198694)

English

Efficient typing of copy number variations in a segmental duplication-mediated rearrangement hotspot using multiplex competitive amplification

scientific article published on 7 June 2012

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scholarly article

1 reference

Europe PubMed Central

11 January 2018

http://europepmc.org/abstract/MED/22673690

Efficient typing of copy number variations in a segmental duplication-mediated rearrangement hotspot using multiplex competitive amplification (English)

1 reference

Europe PubMed Central

11 January 2018

http://europepmc.org/abstract/MED/22673690

object named as

Feng Zhang

12

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author name string

Renqian Du

1

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Europe PubMed Central

11 January 2018

http://europepmc.org/abstract/MED/22673690

Chuncheng Lu

2

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Europe PubMed Central

11 January 2018

http://europepmc.org/abstract/MED/22673690

Zhengwen Jiang

3

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Europe PubMed Central

11 January 2018

http://europepmc.org/abstract/MED/22673690

Shilin Li

4

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Europe PubMed Central

11 January 2018

http://europepmc.org/abstract/MED/22673690

Ruixiao Ma

5

1 reference

Europe PubMed Central

11 January 2018

http://europepmc.org/abstract/MED/22673690

Haijia An

6

1 reference

Europe PubMed Central

11 January 2018

http://europepmc.org/abstract/MED/22673690

Miaofei Xu

7

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Europe PubMed Central

11 January 2018

http://europepmc.org/abstract/MED/22673690

Yu An

8

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Europe PubMed Central

11 January 2018

http://europepmc.org/abstract/MED/22673690

Yankai Xia

9

1 reference

Europe PubMed Central

11 January 2018

http://europepmc.org/abstract/MED/22673690

Li Jin

10

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Europe PubMed Central

11 January 2018

http://europepmc.org/abstract/MED/22673690

Xinru Wang

11

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11 January 2018

http://europepmc.org/abstract/MED/22673690

publication date

7 June 2012

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Europe PubMed Central

11 January 2018

http://europepmc.org/abstract/MED/22673690

Journal of Human Genetics

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11 January 2018

http://europepmc.org/abstract/MED/22673690

57

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Europe PubMed Central

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http://europepmc.org/abstract/MED/22673690

8

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http://europepmc.org/abstract/MED/22673690

545-551

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11 January 2018

http://europepmc.org/abstract/MED/22673690

https://scigraph.springernature.com/pub.10.1038/jhg.2012.66

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Copy number variation in human health, disease, and evolution

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.66

7 January 2021

based on heuristic

inferred from DOI database lookup

Genome architecture, rearrangements and genomic disorders

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https://api.crossref.org/works/10.1038%2FJHG.2012.66

7 January 2021

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Population analysis of large copy number variants and hotspots of human genetic disease

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https://api.crossref.org/works/10.1038%2FJHG.2012.66

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of copy number variation hotspots in human populations

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https://api.crossref.org/works/10.1038%2FJHG.2012.66

7 January 2021

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Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over

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https://api.crossref.org/works/10.1038%2FJHG.2012.66

7 January 2021

based on heuristic

inferred from DOI database lookup

Recent segmental duplications in the human genome

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https://api.crossref.org/works/10.1038%2FJHG.2012.66

7 January 2021

based on heuristic

inferred from DOI database lookup

Structural variation of the human genome: mechanisms, assays, and role in male infertility

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.66

7 January 2021

based on heuristic

inferred from DOI database lookup

Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.66

7 January 2021

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Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.66

7 January 2021

based on heuristic

inferred from DOI database lookup

The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.66

7 January 2021

based on heuristic

inferred from DOI database lookup

MEIG1 is essential for spermiogenesis in mice

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.66

7 January 2021

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Meig1 deficiency causes a severe defect in mouse spermatogenesis.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.66

7 January 2021

based on heuristic

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The b2/b3 subdeletion shows higher risk of spermatogenic failure and higher frequency of complete AZFc deletion than the gr/gr subdeletion in a Chinese population

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.66

7 January 2021

based on heuristic

inferred from DOI database lookup

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.66

7 January 2021

based on heuristic

inferred from DOI database lookup

Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.66

7 January 2021

based on heuristic

inferred from DOI database lookup

The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.66

7 January 2021

based on heuristic

inferred from DOI database lookup

Partial deletions are associated with an increased risk of complete deletion in AZFc: a new insight into the role of partial AZFc deletions in male infertility

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.66

7 January 2021

based on heuristic

inferred from DOI database lookup

Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.66

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.66

7 January 2021

based on heuristic

inferred from DOI database lookup

Designing a simple multiplex ligation-dependent probe amplification (MLPA) assay for rapid detection of copy number variants in the genome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.66

7 January 2021

based on heuristic

inferred from DOI database lookup

Finishing the euchromatic sequence of the human genome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.66

7 January 2021

based on heuristic

inferred from DOI database lookup

Primate segmental duplications: crucibles of evolution, diversity and disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.66

7 January 2021

based on heuristic

inferred from DOI database lookup

Human genomic deletions mediated by recombination between Alu elements.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.66

7 January 2021

based on heuristic

inferred from DOI database lookup

Alu recombination-mediated structural deletions in the chimpanzee genome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.66

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.66

7 January 2021

based on heuristic

inferred from DOI database lookup

Germline rates of de novo meiotic deletions and duplications causing several genomic disorders

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.66

7 January 2021

based on heuristic

inferred from DOI database lookup

Genotype, haplotype and copy-number variation in worldwide human populations

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.66

7 January 2021

based on heuristic

inferred from DOI database lookup

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.66

7 January 2021

based on heuristic

inferred from DOI database lookup

Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2012.66

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/JHG.2012.66

1 reference

Europe PubMed Central

11 January 2018

http://europepmc.org/abstract/MED/22673690

1 reference

Europe PubMed Central

11 January 2018

http://europepmc.org/abstract/MED/22673690

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