A rapid microarray based whole genome analysis for detection of uniparental disomy (Q60035836)

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13 January 2020

title

A rapid microarray based whole genome analysis for detection of uniparental disomy (English)

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13 January 2020

main subject

whole genome sequencing

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6

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13 January 2020

Valérie Cormier-Daire

7

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11

Olaf Riess

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5

Murat Bastepe

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13 January 2020

author name string

Andreas Dufke

2

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13 January 2020

Sven Poths

3

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13 January 2020

Ulrike Angelika Mau-Holzmann

4

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13 January 2020

Thomas Eggermann

8

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13 January 2020

Gabriele Gillessen-Kaesbach

9

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13 January 2020

Michael Bonin

10

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13 January 2020

Ozge Altug-Teber

1

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13 January 2020

publication date

1 August 2005

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13 January 2020

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volume

26

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issue

2

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page(s)

153-159

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Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q).

13 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20198

7 January 2021

Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20198

7 January 2021

Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation.

1 reference

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7 January 2021

Uniparental disomy: clinical indications for testing in growth retardation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20198

7 January 2021

A new genetic concept: uniparental disomy and its potential effect, isodisomy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20198

7 January 2021

Analysis of structural and numerical chromosome abnormalities in sperm of normal men and carriers of constitutional chromosome aberrations. A review

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20198

7 January 2021

Uniparental paternal disomy in a genetic cancer-predisposing syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20198

7 January 2021

Whole-genome scan, in a complex disease, using 11,245 single-nucleotide polymorphisms: comparison with microsatellites

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20198

7 January 2021

Large-scale genotyping of complex DNA.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20198

7 January 2021

Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20198

7 January 2021

Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20198

7 January 2021

Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15.

1 reference

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7 January 2021

The use of a genetic map of biallelic markers in linkage studies

1 reference

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7 January 2021

Uniparental paternal disomy in Angelman's syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20198

7 January 2021

Formation of uniparental disomy 7 delineated from new cases and a UPD7 case after trisomy 7 rescue. Presentation of own results and review of the literature.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20198

7 January 2021

Genomewide linkage analysis of bipolar disorder by use of a high-density single-nucleotide-polymorphism (SNP) genotyping assay: a comparison with microsatellite marker assays and finding of significant linkage to chromosome 6q22.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20198

7 January 2021

Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20198

7 January 2021

Mechanisms leading to uniparental disomy and their clinical consequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20198

7 January 2021

Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20198

7 January 2021

Identifiers

DOI

10.1002/HUMU.20198

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15968682%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

1 reference