Molecular diagnosis of Beckwith-Wiedemann syndrome using quantitative methylation-sensitive polymerase chain reaction. (Q54573235)

1 June 2018

title

Molecular diagnosis of Beckwith-Wiedemann syndrome using quantitative methylation-sensitive polymerase chain reaction. (English)

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1 June 2018

Beckwith-Wiedemann syndrome

main subject

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Bradford Coffee

1

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1 June 2018

Kasinathan Muralidharan

2

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1 June 2018

William E Highsmith

3

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1 June 2018

Pablo Lapunzina

4

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1 June 2018

Stephen T Warren

5

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1 June 2018

language of work or name

English

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publication date

1 October 2006

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1 June 2018

published in

Genetics in Medicine

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1 June 2018

volume

8

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1 June 2018

issue

10

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1 June 2018

page(s)

628-634

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1 June 2018

https://scigraph.springernature.com/pub.10.1097/01.gim.0000237770.42442.cc

exact match

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cites work

Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000237770.42442.CC

Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000237770.42442.CC

Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000237770.42442.CC

Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000237770.42442.CC

Interaction between differentially methylated regions partitions the imprinted genes Igf2 and H19 into parent-specific chromatin loops

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000237770.42442.CC

Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000237770.42442.CC

Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000237770.42442.CC

A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000237770.42442.CC

Uniparental paternal disomy in a genetic cancer-predisposing syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000237770.42442.CC

MethyLight: a high-throughput assay to measure DNA methylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000237770.42442.CC

A novel real-time PCR assay for quantitative analysis of methylated alleles (QAMA): analysis of the retinoblastoma locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000237770.42442.CC

The KCNQ1OT1 promoter, a key regulator of genomic imprinting in human chromosome 11p15.5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000237770.42442.CC

Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome Y.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000237770.42442.CC

10.1097/01.GIM.0000237770.42442.CC

21 January 2018

Identifiers

DOI

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1 June 2018

Dimensions Publication ID

1030967222

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1 June 2018