(Q34329655)

1 August 2017

title

Genomic profile of copy number variants on the short arm of human chromosome 8. (English)

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1 August 2017

Shihui Yu

1

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1 August 2017

Stephanie Fiedler

series ordinal

2

1 reference

1 August 2017

Andrew Stegner

series ordinal

3

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1 August 2017

William D Graf

series ordinal

4

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1 August 2017

publication date

12 May 2010

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European Journal of Human Genetics

1 August 2017

published in

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1 August 2017

volume

18

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1 August 2017

issue

10

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1 August 2017

page(s)

1114-1120

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Inverted duplications deletions: underdiagnosed rearrangements??

1 August 2017

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Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes

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6 July 2018

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6 July 2018

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6 July 2018

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

6 July 2018

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

6 July 2018

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The application of region-specific probes for the resolution of duplication 8p: a case report and a review of the literature

6 July 2018

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Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event

6 July 2018

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

6 July 2018

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6 July 2018

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6 July 2018

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

6 July 2018

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

6 July 2018

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The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications

6 July 2018

1 reference

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Terminal deletion in chromosome region 8p23.1-8pter in a child with features of velo-cardio-facial syndrome.

6 July 2018

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Inversion duplication of the short arm of chromosome 8: clinical data on seven patients and review of the literature

6 July 2018

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Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization

6 July 2018

1 reference

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D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p).

6 July 2018

1 reference

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Inverted tandem duplication generates a duplication deficiency of chromosome 8p.

6 July 2018

1 reference

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

6 July 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2010.66

Mosaicism for an ectopic NOR at 8pter and a complex rearrangement of chromosome 8 in a patient with severe psychomotor retardation.

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2010.66

U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements.

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2010.66

Small supernumerary marker chromosomes – progress towards a genotype-phenotype correlation

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2010.66

Copy number variations associated with idiopathic autism identified by whole-genome microarray-based comparative genomic hybridization.

21 January 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2010.66

Validation of the Agilent 244K oligonucleotide array-based comparative genomic hybridization platform for clinical cytogenetic diagnosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.66

Quantitative real-time polymerase chain reaction for the verification of genomic imbalances detected by microarray-based comparative genomic hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.66

Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.66

Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.66

Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.66

Stabilization of a terminal inversion duplication of 8p by telomere capture from 18q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.66

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%2FEJHG.2010.66

A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.66

Protelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.66

Prenatal diagnosis of de novo unbalanced translocation 8p;21q using subtelomeric probes

21 January 2018

1 reference

12 December 2020

Monosomy 1p36 breakpoints indicate repetitive DNA sequence elements may be involved in generating and/or stabilizing some terminal deletions

1 reference

12 December 2020

Molecular cytogenetic characterization of a unique and complex de novo 8p rearrangement

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular cytogenetic and clinical findings in a patient with a small supernumerary r(8) mosaicism

1 reference

12 December 2020

Duplication-deficiency of the short arm of chromosome 8 following artificial insemination

1 reference

12 December 2020

Structural variation in the human genome

1 reference

12 December 2020

Molecular characterization of inv dup del(8p): analysis of five cases

1 reference

12 December 2020

Prenatal diagnosis of inverted duplicated 8p

1 reference

12 December 2020

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.66

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/EJHG.2010.66

1 reference

1 August 2017

1 reference

1 August 2017

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