Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies (Q35679786)

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scientific article published on 14 September 2011

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English	Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies	scientific article published on 14 September 2011

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scholarly article

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PubMed publication ID

21915152

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9 August 2017

title

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

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PubMed publication ID

21915152

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9 August 2017

author

Joris R Vermeesch

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Joris R Vermeesch

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21915152

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9 August 2017

Beata Nowakowska

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Beata A Nowakowska

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21915152

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Rolph Pfundt

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Rolph Pfundt

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21915152

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Jean-Pierre Fryns

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Jean-Pierre Fryns

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21915152

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Bert B A de Vries

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Bert B A de Vries

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21915152

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Nicole de Leeuw

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Nicole de Leeuw

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21915152

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author name string

Claudia Al Ruivenkamp

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21915152

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Birgit Sikkema-Raddatz

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21915152

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John A Crolla

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21915152

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Reinhilde Thoelen

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21915152

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Marije Koopmans

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21915152

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Nicolette den Hollander

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21915152

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Arie van Haeringen

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Anne-Marie van der Kevie-Kersemaekers

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21915152

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Hanneke Mieloo

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Ton van Essen

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Andrew Green

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Willie Reardon

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publication date

14 September 2011

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Europe PubMed Central

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21915152

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9 August 2017

published in

European Journal of Human Genetics

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21915152

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volume

20

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issue

2

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21915152

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page(s)

166-170

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21915152

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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

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PubMed Central

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

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12 July 2018

Diagnostic genome profiling in mental retardation

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

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12 July 2018

Interchromosomal insertions. Identification of five cases and a review

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PubMed Central

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

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12 July 2018

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

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PubMed Central

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

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12 July 2018

Intrachromosomal insertions: a case report and a review

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PubMed Central

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

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12 July 2018

PGD for a complex chromosomal rearrangement by array comparative genomic hybridization

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25 September 2018

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

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25 September 2018

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

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25 September 2018

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

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25 September 2018

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

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PubMed Central

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25 September 2018

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

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/21915152

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/21915152

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/21915152

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Preimplantation genetic diagnosis for an insertional translocation carrier

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/21915152

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/EJHG.2011.157

1 reference

stated in

Europe PubMed Central

PubMed publication ID

21915152

retrieved

9 August 2017

PMC publication ID

3260932

1 reference

stated in

Europe PubMed Central

PubMed publication ID

21915152

retrieved

9 August 2017

PubMed publication ID

21915152

1 reference

stated in

Europe PubMed Central

PubMed publication ID

21915152

retrieved

9 August 2017

ResearchGate publication ID

51635047

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