(Q73121102)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12634857%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndrome (English)

1 reference

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1 November 2019

8

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1 November 2019

7

Joris R Vermeesch

1 reference

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1 November 2019

author name string

Gabriel Stefan Gebhardt

1

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1 November 2019

Koenraad Devriendt

2

1 reference

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1 November 2019

Reinhilde Thoelen

3

1 reference

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1 November 2019

Ann Swillen

4

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1 November 2019

Elly Pijkels

5

1 reference

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1 November 2019

Jean-Pierre Fryns

6

1 reference

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1 November 2019

publication date

1 February 2003

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12634857%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

1 November 2019

published in

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1 November 2019

volume

11

1 reference

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1 November 2019

issue

2

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1 November 2019

page(s)

109-111

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200930

1 November 2019

exact match

0 references

cites work

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200930

7 January 2021

Structure of chromosomal duplicons and their role in mediating human genomic disorders

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200930

7 January 2021

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200930

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200930

7 January 2021

Deletion in chromosome region 22q11 in a child with CHARGE association.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200930

7 January 2021

A common molecular basis for rearrangement disorders on chromosome 22q11

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200930

7 January 2021

Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200930

7 January 2021

Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200930

7 January 2021

Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200930

7 January 2021

Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200930

7 January 2021

Characterisation of interstitial duplications and triplications of chromosome 15q11-q13.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200930

7 January 2021

Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200930

7 January 2021

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200930

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200930

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12634857%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference