(Q52029695)

English

Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications.

scientific article published in February 2006

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Europe PubMed Central

PubMed publication ID

20 April 2018

http://europepmc.org/abstract/MED/16391556

Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications. (English)

1 reference

Europe PubMed Central

PubMed publication ID

20 April 2018

http://europepmc.org/abstract/MED/16391556

3

1 reference

Europe PubMed Central

PubMed publication ID

20 April 2018

http://europepmc.org/abstract/MED/16391556

Jeroen Knijnenburg

4

1 reference

Europe PubMed Central

PubMed publication ID

20 April 2018

http://europepmc.org/abstract/MED/16391556

author name string

Marjolein Kriek

1

1 reference

Europe PubMed Central

PubMed publication ID

20 April 2018

http://europepmc.org/abstract/MED/16391556

Stefan J White

2

1 reference

Europe PubMed Central

PubMed publication ID

20 April 2018

http://europepmc.org/abstract/MED/16391556

Gert-Jan B van Ommen

5

1 reference

Europe PubMed Central

PubMed publication ID

20 April 2018

http://europepmc.org/abstract/MED/16391556

Johan T den Dunnen

6

1 reference

Europe PubMed Central

PubMed publication ID

20 April 2018

http://europepmc.org/abstract/MED/16391556

Martijn H Breuning

7

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Europe PubMed Central

PubMed publication ID

20 April 2018

http://europepmc.org/abstract/MED/16391556

publication date

1 February 2006

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Europe PubMed Central

PubMed publication ID

20 April 2018

http://europepmc.org/abstract/MED/16391556

European Journal of Human Genetics

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Europe PubMed Central

PubMed publication ID

20 April 2018

http://europepmc.org/abstract/MED/16391556

14

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Europe PubMed Central

PubMed publication ID

20 April 2018

http://europepmc.org/abstract/MED/16391556

2

1 reference

Europe PubMed Central

PubMed publication ID

20 April 2018

http://europepmc.org/abstract/MED/16391556

180-189

1 reference

Europe PubMed Central

PubMed publication ID

20 April 2018

http://europepmc.org/abstract/MED/16391556

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201540

21 January 2018

Segmental duplications: an 'expanding' role in genomic instability and disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201540

21 January 2018

Genome architecture, rearrangements and genomic disorders

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201540

21 January 2018

Segmental duplications: organization and impact within the current human genome project assembly

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201540

21 January 2018

Recent duplication, domain accretion and the dynamic mutation of the human genome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201540

21 January 2018

Recent segmental duplications in the human genome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201540

21 January 2018

Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201540

21 January 2018

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201540

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A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality--and tolerance of segmental aneuploidy--in humans

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201540

21 January 2018

Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201540

21 January 2018

An Alu Transposition Model for the Origin and Expansion of Human Segmental Duplications

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201540

21 January 2018

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201540

21 January 2018

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201540

21 January 2018

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201540

21 January 2018

Molecular-evolutionary mechanisms for genomic disorders

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201540

21 January 2018

Mutational mechanisms of Williams-Beuren syndrome deletions

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201540

21 January 2018

A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201540

21 January 2018

Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201540

21 January 2018

Human Nudel and NudE as regulators of cytoplasmic dynein in poleward protein transport along the mitotic spindle

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201540

21 January 2018

Large-scale copy number polymorphism in the human genome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201540

21 January 2018

Detection of large-scale variation in the human genome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201540

21 January 2018

Segmental duplications and copy-number variation in the human genome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201540

21 January 2018

Insights from genomic microarrays into structural chromosome rearrangements

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201540

21 January 2018

Familial DiGeorge syndrome and associated partial monosomy of chromosome 22

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201540

7 January 2021

based on heuristic

inferred from DOI database lookup

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201540

7 January 2021

based on heuristic

inferred from DOI database lookup

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.5201540

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/SJ.EJHG.5201540

1 reference

Europe PubMed Central

PubMed publication ID

20 April 2018

http://europepmc.org/abstract/MED/16391556

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

20 April 2018

http://europepmc.org/abstract/MED/16391556

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