(Q34991608)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24045839%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

title

Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2. (English)

1 reference

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22 February 2020

5

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22 February 2020

author name string

Christine Tyson

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24045839%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Andrew J Sharp

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24045839%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Monica Hrynchak

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24045839%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Siu L Yong

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24045839%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Peter Warburton

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24045839%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

John Ck Barber

7

1 reference

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22 February 2020

publication date

18 September 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24045839%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

22 February 2020

published in

1 reference

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22 February 2020

volume

22

1 reference

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22 February 2020

issue

4

1 reference

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22 February 2020

page(s)

458-463

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24045839%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ejhg.2013.185

22 February 2020

exact match

0 references

cites work

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Challenges in identifying candidate amplification targets in human cancers: chromosome 8q21 as a case study

8 July 2018

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A novel pseudo-dicentric variant of 16p11.2-q11.2 contains euchromatin from 16p11.2-p11.1 and resembles pathogenic duplications of proximal 16q.

8 July 2018

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16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2.

8 July 2018

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Association of β-defensin copy number and psoriasis in three cohorts of European origin.

8 July 2018

1 reference

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CCL3L1 copy number and susceptibility to malaria

8 July 2018

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The impact of human gene polymorphisms on HCV infection and disease outcome

8 July 2018

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A worldwide analysis of beta-defensin copy number variation suggests recent selection of a high-expressing DEFB103 gene copy in East Asia

8 July 2018

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New cytogenetically visible copy number variant in region 8q21.2.

8 July 2018

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Diversity of human copy number variation and multicopy genes

8 July 2018

1 reference

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Identification of candidate growth promoting genes in ovarian cancer through integrated copy number and expression analysis

8 July 2018

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Complete Khoisan and Bantu genomes from southern Africa

8 July 2018

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High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians

8 July 2018

1 reference

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Personalized copy number and segmental duplication maps using next-generation sequencing.

8 July 2018

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Benign copy number changes in clinical cytogenetic diagnostics by array CGH

8 July 2018

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

8 July 2018

1 reference

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Analysis of the largest tandemly repeated DNA families in the human genome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953911

Mapping and sequencing of structural variation from eight human genomes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953911

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953911

Direct multiplexed measurement of gene expression with color-coded probe pairs

8 July 2018

1 reference

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

8 July 2018

1 reference

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Psoriasis is associated with increased beta-defensin genomic copy number

8 July 2018

1 reference

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Diet and the evolution of human amylase gene copy number variation

8 July 2018

1 reference

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Serum Immunoglobulin G Antibodies to the GOR Autoepitope Are Present in Patients with Occult Hepatitis C Virus (HCV) Infection despite Lack of HCV-Specific Antibodies

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953911

Novel deletion variants of 9q13-q21.12 and classical euchromatic variants of 9q12/qh involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromatin

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3953911

The euchromatic 9p+ polymorphism is a locus-specific amplification caused by repeated copies of a small DNA segment mapping within 9p12.

8 July 2018

1 reference

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Directly transmitted unbalanced chromosome abnormalities and euchromatic variants

8 July 2018

1 reference

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Detection of large-scale variation in the human genome

8 July 2018

1 reference

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Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster

8 July 2018

1 reference

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Integration of the cytogenetic map with the draft human genome sequence

8 July 2018

1 reference

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Organisation of the pericentromeric region of chromosome 15: at least four partial gene copies are amplified in patients with a proximal duplication of 15q

8 July 2018

1 reference

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Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements

8 July 2018

1 reference

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Amplification of a pseudogene cassette underlies euchromatic variation of 16p at the cytogenetic level

8 July 2018

1 reference

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Digitized and differentially shaded human chromosome ideograms for genomic applications.

8 July 2018

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Parameters of the human genome

8 July 2018

1 reference

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β-defensin genomic copy number is associated with HIV load and immune reconstitution in sub-saharan Africans

8 July 2018

1 reference

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Duplication of 9 p11.2-p13.1: a benign cytogenetic variant.

21 January 2018

1 reference

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Another family with a euchromatic duplication variant of 9q13-q21.1 derived from segmentally duplicated pericentromeric euchromatin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.185

Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.185

Proximal 15q familial euchromatic variant and PWS/AS critical region duplication in the same patient: a cytogenetic pitfall.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.185

Formation of novel CENP-A domains on tandem repetitive DNA and across chromosome breakpoints on human chromosome 8q21 neocentromeres.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2013.185

Euchromatic variant 16p+. Implications in prenatal diagnosis

21 January 2018

1 reference

12 December 2020

Reply to Dundar et. al. why a causal association between classical euchromatic variants of chromosome 9 and multiple miscarriages is unlikely

1 reference

12 December 2020

Duplication of 8p23.2: a benign cytogenetic variant?

1 reference

12 December 2020

An unusual familial chromosome 9 "variant" with variable phenotype: characterization by CGH analysis

1 reference

12 December 2020

Lower copy numbers of the chemokine CCL3L1 gene in patients with chronic hepatitis C

1 reference

12 December 2020

Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions

1 reference

12 December 2020

Neurofibromatosis pseudogene amplification underlies euchromatic cytogenetic duplications and triplications of proximal 15q

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2013.185

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24045839%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24045839%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference