(Q34326159)

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

18 January 2020

title

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

1 reference

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18 January 2020

1

1 reference

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18 January 2020

Gaetano Verde

2

1 reference

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18 January 2020

Angela Sparago

6

1 reference

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18 January 2020

Maria Vittoria Cubellis

15

1 reference

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18 January 2020

Karen Temple

17

1 reference

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18 January 2020

Deborah Jg Mackay

19

1 reference

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18 January 2020

Andrea Riccio

20

1 reference

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18 January 2020

Agostina De Crescenzo

5

object named as

Agostina De Crescenzo

1 reference

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18 January 2020

7

Flavia Cerrato

1 reference

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18 January 2020

Maria Michela Rinaldi

10

object named as

Maria Michela Rinaldi

1 reference

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18 January 2020

author name string

Jonathan Callaway

3

1 reference

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18 January 2020

Saskia M Maas

4

1 reference

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18 January 2020

Silvia Russo

8

1 reference

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18 January 2020

Serena Ferraiuolo

9

1 reference

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18 January 2020

Rita Fischetto

11

1 reference

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18 January 2020

Faustina Lalatta

12

1 reference

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18 January 2020

Lucio Giordano

13

1 reference

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18 January 2020

Paola Ferrari

14

1 reference

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18 January 2020

Lidia Larizza

16

1 reference

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18 January 2020

Marcel M A M Mannens

18

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18 January 2020

publication date

17 December 2008

1 reference

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

European Journal of Human Genetics

18 January 2020

published in

1 reference

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18 January 2020

volume

17

1 reference

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18 January 2020

issue

5

1 reference

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18 January 2020

page(s)

611-619

1 reference

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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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986258

The GNAS locus and pseudohypoparathyroidism

6 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986258

6 July 2018

https://api.crossref.org/works/10.1038%2FEJHG.2008.233

7 January 2021

inferred from DOI database lookup

Control of imprinting at the Gnas cluster.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986258

Phenotypic plasticity and the epigenetics of human disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986258

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986258

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986258

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986258

Epigenetic deregulation of imprinting in congenital diseases of aberrant growth

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986258

Imprinted genes in placental growth and obstetric disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986258

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986258

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986258

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986258

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986258

Transient neonatal diabetes, a disorder of imprinting.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986258

Genomic imprinting: parental influence on the genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986258

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986258

Birth weight and head circumference standards for English twins

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986258

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986258

Dnmt3L and the establishment of maternal genomic imprints.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986258

A new and improved population-based Canadian reference for birth weight for gestational age.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986258

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986258

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986258

Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986258

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

27 October 2018

1 reference

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

1 reference

12 December 2020

Beckwith-Wiedemann syndrome

1 reference

12 December 2020

A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus

1 reference

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

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

18 January 2020

PubMed publication ID

19092779

1 reference