(Q34701782)

4 August 2017

title

8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH. (English)

1 reference

8p23.1 duplication syndrome

4 August 2017

main subject

1 reference

Yanick Crow

13

0 references

author name string

John C K Barber

1

1 reference

4 August 2017

Viv K Maloney

2

1 reference

4 August 2017

Shuwen Huang

3

1 reference

4 August 2017

David J Bunyan

4

1 reference

4 August 2017

Lara Cresswell

5

1 reference

4 August 2017

Esther Kinning

6

1 reference

4 August 2017

Anna Benson

7

1 reference

4 August 2017

Tim Cheetham

8

1 reference

4 August 2017

Jonathan Wyllie

9

1 reference

4 August 2017

Sally Ann Lynch

10

1 reference

4 August 2017

Simon Zwolinski

11

1 reference

4 August 2017

Laura Prescott

12

1 reference

4 August 2017

Rob Morgan

14

1 reference

4 August 2017

Emma Hobson

15

1 reference

4 August 2017

publication date

17 October 2007

1 reference

European Journal of Human Genetics

4 August 2017

published in

1 reference

4 August 2017

volume

16

1 reference

4 August 2017

issue

1

1 reference

4 August 2017

page(s)

18-27

1 reference

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

4 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201932

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201932

7 January 2021

Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201932

7 January 2021

Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201932

7 January 2021

Diagnostic genome profiling in mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201932

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201932

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201932

7 January 2021

Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201932

7 January 2021

Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201932

7 January 2021

Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201932

7 January 2021

Directly transmitted unbalanced chromosome abnormalities and euchromatic variants

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201932

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201932

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201932

7 January 2021

Copy number polymorphism and expression level variation of the human alpha-defensin genes DEFA1 and DEFA3

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201932

7 January 2021

Defensins knowledgebase: a manually curated database and information source focused on the defensins family of antimicrobial peptides

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201932

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201932

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201932

7 January 2021

High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201932

7 January 2021

Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201932

7 January 2021

Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201932

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.5201932

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201932

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.5201932

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201932

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201932

7 January 2021

Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201932

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201932

1 reference

4 August 2017

1 reference