Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. (Q34326159)

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18 January 2020

title

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome (English)

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18 January 2020

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18 January 2020

Gaetano Verde

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Angela Sparago

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Maria Vittoria Cubellis

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Karen Temple

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Deborah Jg Mackay

19

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Andrea Riccio

20

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18 January 2020

Agostina De Crescenzo

5

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Agostina De Crescenzo

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Flavia Cerrato

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18 January 2020

Maria Michela Rinaldi

10

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Maria Michela Rinaldi

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18 January 2020

author name string

Jonathan Callaway

3

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18 January 2020

Saskia M Maas

4

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Silvia Russo

8

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Serena Ferraiuolo

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Rita Fischetto

11

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Faustina Lalatta

12

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Lucio Giordano

13

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Paola Ferrari

14

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Lidia Larizza

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Marcel M A M Mannens

18

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publication date

17 December 2008

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European Journal of Human Genetics

18 January 2020

published in

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volume

17

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issue

5

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18 January 2020

page(s)

611-619

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https://scigraph.springernature.com/pub.10.1038/ejhg.2008.233

18 January 2020

exact match

0 references

cites work

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

1 reference

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The GNAS locus and pseudohypoparathyroidism

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7 January 2021

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Control of imprinting at the Gnas cluster.

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Phenotypic plasticity and the epigenetics of human disease

6 July 2018

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Zac1 regulates an imprinted gene network critically involved in the control of embryonic growth

6 July 2018

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Circular chromosome conformation capture (4C) uncovers extensive networks of epigenetically regulated intra- and interchromosomal interactions.

6 July 2018

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The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region

6 July 2018

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Epigenetic deregulation of imprinting in congenital diseases of aberrant growth

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Imprinted genes in placental growth and obstetric disorders

6 July 2018

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ZAC, LIT1 (KCNQ1OT1) and p57KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndrome

6 July 2018

1 reference

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Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor

6 July 2018

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DNMT3B mutations and DNA methylation defect define two types of ICF syndrome.

6 July 2018

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Lack of involvement of known DNA methyltransferases in familial hydatidiform mole implies the involvement of other factors in establishment of imprinting in the human female germline

6 July 2018

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Genomic imprinting: parental influence on the genome

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Risk of cancer during the first four years of life in children from The Beckwith-Wiedemann Syndrome Registry

6 July 2018

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6 July 2018

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

6 July 2018

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Dnmt3L and the establishment of maternal genomic imprints.

27 October 2018

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Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour

27 October 2018

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Epimutation of the TNDM locus and the Beckwith–Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus

27 October 2018

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Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome

27 October 2018

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Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour

27 October 2018

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12 December 2020

Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS

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12 December 2020

Beckwith-Wiedemann syndrome

1 reference

12 December 2020

A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus

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12 December 2020

Identifiers

DOI

10.1038/EJHG.2008.233

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19092779%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

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18 January 2020

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