Syntenic organization of the mouse distal chromosome 7 imprinting cluster and the Beckwith-Wiedemann syndrome region in chromosome 11p15.5. (Q48000452)

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12 November 2019

title

Syntenic organization of the mouse distal chromosome 7 imprinting cluster and the Beckwith-Wiedemann syndrome region in chromosome 11p15.5. (English)

1 reference

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Beckwith-Wiedemann syndrome

12 November 2019

main subject

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12

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12 November 2019

Wolf Reik

14

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Wendy Dean

7

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12 November 2019

author name string

M Paulsen

1

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K R Davies

2

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12 November 2019

L M Bowden

3

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A J Villar

4

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12 November 2019

O Franck

5

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M Fuermann

6

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T F Moore

8

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N Rodrigues

9

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K E Davies

10

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12 November 2019

R J Hu

11

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E R Maher

13

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J Walter

15

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publication date

1 July 1998

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12 November 2019

language of work or name

English

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published in

Human Molecular Genetics

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12 November 2019

volume

7

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12 November 2019

issue

7

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12 November 2019

page(s)

1149-1159

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Imprinting mechanisms in mammals

12 November 2019

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Imprinted chromosomal regions of the human genome display sex-specific meiotic recombination frequencies

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The human Achaete-Scute homologue 2 (ASCL2,HASH2) maps to chromosome 11p15.5, close to IGF2 and is expressed in extravillus trophoblasts.

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The IPL gene on chromosome 11p15.5 is imprinted in humans and mice and is similar to TDAG51, implicated in Fas expression and apoptosis

21 January 2018

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Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements

21 January 2018

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A 2.5-Mb Transcript Map of a Tumor-Suppressing Subchromosomal Transferable Fragment from 11p15.5, and Isolation and Sequence Analysis of Three Novel Genes

21 January 2018

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A novel human homologue of yeast nucleosome assembly protein, 65 kb centromeric to the p57KIP2 gene, is biallelically expressed in fetal and adult tissues

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Imprinting of IGF2 and H19: lack of reciprocity in sporadic Beckwith-Wiedemann syndrome

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Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by altered imprinting pattern in the IGF2-H19 domain

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

21 January 2018

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Altered cell differentiation and proliferation in mice lacking p57KIP2 indicates a role in Beckwith–Wiedemann syndrome

21 January 2018

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Molecular characterization of cytogenetic alterations associated with the Beckwith — Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/HMG/7.7.1149

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9618174%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference