(Q83159434)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16617304%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11 (English)

1 reference

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19 January 2020

author name string

N Simon Thomas

1

1 reference

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19 January 2020

Miranda Durkie

2

1 reference

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19 January 2020

Gemma Potts

3

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19 January 2020

Richard Sandford

4

1 reference

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19 January 2020

Berendine Van Zyl

5

1 reference

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19 January 2020

Sheila Youings

6

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19 January 2020

Nicholas R Dennis

7

1 reference

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19 January 2020

Patricia A Jacobs

8

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19 January 2020

publication date

12 April 2006

1 reference

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European Journal of Human Genetics

19 January 2020

published in

1 reference

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19 January 2020

volume

14

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19 January 2020

issue

7

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19 January 2020

page(s)

831-837

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Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

19 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201617

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201617

7 January 2021

Unequal meiotic crossover: a frequent cause of NF1 microdeletions.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201617

7 January 2021

Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201617

7 January 2021

Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201617

7 January 2021

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.5201617

7 January 2021

Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201617

7 January 2021

The mechanisms involved in formation of deletions and duplications of 15q11-q13.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201617

7 January 2021

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.5201617

7 January 2021

Sex-dependent rearrangements resulting in CMT1A and HNPP.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201617

7 January 2021

High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201617

7 January 2021

Mutational mechanisms of Williams-Beuren syndrome deletions

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201617

7 January 2021

Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201617

7 January 2021

Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201617

7 January 2021

Non-random asynchronous replication at 22q11.2 favours unequal meiotic crossovers leading to the human 22q11.2 deletion.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201617

7 January 2021

Excess of deletions of maternal origin in the DiGeorge/Velo-cardio-facial syndromes. A study of 22 new patients and review of the literature

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201617

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.5201617

7 January 2021

Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: a preliminary study

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201617

7 January 2021

22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental origin

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201617

7 January 2021

Molecular characterization of tetralogy of fallot within Digeorge critical region of the chromosome 22.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201617

7 January 2021

Investigation of meiotic rearrangements in DGS/VCFS patients with a microdeletion 22q11.2.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201617

7 January 2021

Molecular characterization of chromosome 22 deletions by short tandem repeat polymorphism (STRP) in patients with conotruncal heart defects

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201617

7 January 2021

Inter- and Intrachromosomal Rearrangements Are Both Involved in the Origin of 15q11-q13 Deletions in Prader-Willi Syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201617

7 January 2021

The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201617

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201617

7 January 2021

Severe expressive-language delay related to duplication of the Williams-Beuren locus

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201617

7 January 2021

Microduplication and triplication of 22q11.2: a highly variable syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201617

7 January 2021

Sex matters in meiosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201617

7 January 2021

To err (meiotically) is human: the genesis of human aneuploidy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201617

7 January 2021

Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201617

7 January 2021

Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201617

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.5201617

7 January 2021

Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201617

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201617

7 January 2021

Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201617

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201617

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16617304%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference