(Q51906206)

17 April 2018

title

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

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17 April 2018

author

Jeroen Knijnenburg

1

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17 April 2018

Karoly Szuhai

10

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17 April 2018

Carla Rosenberg

object named as

Carla Rosenberg

8

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author name string

Arie van Haeringen

2

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17 April 2018

Kerstin B M Hansson

3

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17 April 2018

Arjan Lankester

4

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17 April 2018

Margot J M Smit

5

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17 April 2018

René D M Belfroid

6

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17 April 2018

Egbert Bakker

7

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17 April 2018

Hans J Tanke

9

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17 April 2018

publication date

7 March 2007

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17 April 2018

European Journal of Human Genetics

published in

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17 April 2018

volume

15

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17 April 2018

issue

5

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17 April 2018

page(s)

548-555

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17 April 2018

Insights from genomic microarrays into structural chromosome rearrangements

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201807

Inheritance of a ring 14 chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201807

7 January 2021

Ring chromosome 18 in a mother and son.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201807

7 January 2021

Ring chromosome 15 in a mother and her children

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201807

7 January 2021

Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of "complete ring" syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201807

7 January 2021

Does "ring syndrome" exist? An analysis of 207 case reports on patients with a ring autosome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201807

7 January 2021

Inverted tandem (“mirror”) duplications in human chromosomes: Inv dup 8p, 4q, 22q

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201807

7 January 2021

A paternally derived inverted duplication of distal 14q with a terminal 14q deletion.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201807

7 January 2021

DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201807

7 January 2021

Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201807

7 January 2021

The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201807

7 January 2021

Array CGH detection of a cryptic deletion in a complex chromosome rearrangement.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201807

7 January 2021

Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201807

7 January 2021

A dysmorphic boy with 4qter deletion and 4q32.3-34.3 duplication: clinical, cytogenetic, and molecular findings

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201807

7 January 2021

Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201807

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201807

7 January 2021

A truncated human chromosome 16 associated with α thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201807

7 January 2021

Telomere capture stabilizes chromosome breakage

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201807

7 January 2021

FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201807

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201807

7 January 2021

Further delineation of the chromosome 14q terminal deletion syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201807

7 January 2021

Duplication 14(q31----qter)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201807

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201807

1 reference

17 April 2018

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17 April 2018