(Q35603645)

9 August 2017

title

No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome (English)

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9 August 2017

main subject

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4

Niels Tommerup

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author name string

Susanne E Boonen

1

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9 August 2017

Johanne M D Hahnemann

2

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9 August 2017

Deborah Mackay

3

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9 August 2017

Karen Brøndum-Nielsen

5

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9 August 2017

Zeynep Tümer

6

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9 August 2017

Karen Grønskov

7

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9 August 2017

publication date

24 August 2011

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European Journal of Human Genetics

9 August 2017

published in

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9 August 2017

volume

20

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9 August 2017

issue

1

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9 August 2017

page(s)

119-121

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https://scigraph.springernature.com/pub.10.1038/ejhg.2011.140

9 August 2017

exact match

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cites work

An atypical case of hypomethylation at multiple imprinted loci

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234508

Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234508

Screening for genomic variants in ZFP57 in Silver-Russell syndrome patients with 11p15 epimutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234508

Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234508

Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234508

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234508

A maternal-zygotic effect gene, Zfp57, maintains both maternal and paternal imprints

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234508

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234508

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234508

Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234508

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234508

Extending the maternal-zygotic effect with genomic imprinting.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234508

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

25 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.140

Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues

21 January 2018

1 reference

12 December 2020

Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci

1 reference

12 December 2020

1 reference

12 December 2020

1 reference

12 December 2020

Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation

1 reference

12 December 2020

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2011.140

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9 August 2017

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9 August 2017

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