(Q34439909)

2 August 2017

title

Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level (English)

1 reference

2 August 2017

John C K Barber

1

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2 August 2017

Viv Maloney

2

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2 August 2017

Edward J Hollox

3

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2 August 2017

Annegret Stuke-Sontheimer

4

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2 August 2017

Gabi du Bois

5

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2 August 2017

Eva Daumiller

6

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2 August 2017

Ute Klein-Vogler

7

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2 August 2017

Andreas Dufke

8

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2 August 2017

John A L Armour

9

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2 August 2017

Thomas Liehr

10

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2 August 2017

language of work or name

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1 October 2005

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European Journal of Human Genetics

2 August 2017

published in

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2 August 2017

volume

13

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2 August 2017

issue

10

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2 August 2017

page(s)

1131-1136

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Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance

2 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201475

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201475

8p23 duplication reconsidered: is it a true euchromatic variant with no clinical manifestation?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201475

Large multi-chromosomal duplications encompass many members of the olfactory receptor gene family in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201475

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201475

Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201475

Familial partial trisomy 8p without dysmorphic features and only mild mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201475

Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201475

GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201475

Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201475

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201475

Large-scale copy number polymorphism in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201475

Detection of large-scale variation in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201475

A fetus with a 90,XX karyotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201475

7 January 2021

Inherited duplication, dup (8) (p23.1p23.1) pat, in a father and daughter with congenital heart defects

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201475

7 January 2021

On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201475

7 January 2021

Duplication of chromosome region 8p23.1 ? p23.3: A benign variant?

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201475

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201475

7 January 2021

GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201475

7 January 2021

Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201475

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201475

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201475

1 reference

Dimensions Publication ID

2 August 2017

1007695661

0 references

1 reference