(Q35679786)

9 August 2017

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies (English)

1 reference

9 August 2017

18

Joris R Vermeesch

1 reference

9 August 2017

1

Beata A Nowakowska

1 reference

9 August 2017

11

Rolph Pfundt

1 reference

9 August 2017

17

Jean-Pierre Fryns

1 reference

9 August 2017

14

Bert B A de Vries

1 reference

9 August 2017

Nicole de Leeuw

2

1 reference

9 August 2017

Claudia Al Ruivenkamp

3

1 reference

9 August 2017

Birgit Sikkema-Raddatz

4

1 reference

9 August 2017

John A Crolla

5

1 reference

9 August 2017

Reinhilde Thoelen

6

1 reference

9 August 2017

Marije Koopmans

7

1 reference

9 August 2017

Nicolette den Hollander

8

1 reference

9 August 2017

Arie van Haeringen

9

1 reference

9 August 2017

Anne-Marie van der Kevie-Kersemaekers

10

1 reference

9 August 2017

Hanneke Mieloo

12

1 reference

9 August 2017

Ton van Essen

13

1 reference

9 August 2017

Andrew Green

15

1 reference

9 August 2017

Willie Reardon

16

1 reference

9 August 2017

14 September 2011

1 reference

European Journal of Human Genetics

9 August 2017

1 reference

9 August 2017

20

1 reference

9 August 2017

2

1 reference

9 August 2017

166-170

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2011.157

9 August 2017

0 references

cites work

Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260932

Diagnostic genome profiling in mental retardation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260932

Interchromosomal insertions. Identification of five cases and a review

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260932

Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260932

Intrachromosomal insertions: a case report and a review

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260932

PGD for a complex chromosomal rearrangement by array comparative genomic hybridization.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260932

Phenotypic variability of a deletion and duplication 6q16.1 → q21 due to a paternal balanced ins(7;6)(p15;q16.1q21).

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260932

Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260932

Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260932

A familial complex chromosome translocation resulting in duplication of 6p25.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260932

Preimplantation genetic diagnosis of chromosome abnormalities: implications from the outcome for couples with chromosomal rearrangements

25 September 2018

1 reference

12 December 2020

Familial insertion (3;5)(q25.3;q22.1q31.3) with deletion or duplication of chromosome region 5q22.1-5q31.3 in ten unbalanced carriers

1 reference

12 December 2020

Interstitial 11q deletion derived from a maternal ins(4;11)(p14;q24.2q25): a patient report and review

1 reference

12 December 2020

Preimplantation genetic diagnosis for an insertional translocation carrier

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2011.157

1 reference

9 August 2017

1 reference

9 August 2017

1 reference