(Q34329150)

1 August 2017

title

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

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1 August 2017

author name string

Claire Louise Susan Turner

1

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1 August 2017

Deborah M Mackay

2

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1 August 2017

Jonathan L A Callaway

3

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1 August 2017

Louise E Docherty

4

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1 August 2017

Rebecca L Poole

5

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1 August 2017

Hilary Bullman

6

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1 August 2017

Margaret Lever

7

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1 August 2017

Bruce M Castle

8

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1 August 2017

Emma C Kivuva

9

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1 August 2017

Peter D Turnpenny

10

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1 August 2017

Sarju G Mehta

11

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1 August 2017

Sahar Mansour

12

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1 August 2017

Emma L Wakeling

13

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1 August 2017

Verghese Mathew

14

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1 August 2017

Jackie Madden

15

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1 August 2017

Justin H Davies

16

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1 August 2017

I Karen Temple

17

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1 August 2017

language of work or name

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27 January 2010

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European Journal of Human Genetics

1 August 2017

published in

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1 August 2017

volume

18

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1 August 2017

issue

6

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1 August 2017

page(s)

648-655

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https://scigraph.springernature.com/pub.10.1038/ejhg.2009.246

1 August 2017

exact match

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cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987339

Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (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=2987339

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci 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=2987339

Identification of the human homolog of the imprinted mouse Air non-coding RNA.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987339

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987339

The centromeric 11p15 imprinting centre is also involved in Silver-Russell 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=2987339

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=2987339

Is maternal duplication of 11p15 associated with Silver-Russell 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=2987339

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=2987339

The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987339

Type-2 IGF receptor: a multi-ligand binding protein

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987339

Monozygotic twins discordant for the Russell-Silver 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=2987339

Loss of the imprinted IGF2/cation-independent mannose 6-phosphate receptor results in fetal overgrowth and perinatal lethality

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987339

Regulation of embryonic growth and lysosomal targeting by the imprinted Igf2/Mpr gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987339

Monozygotic twins discordant for Wiedemann-Beckwith syndrome and the implications for genetic counselling.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987339

Monozygotic twins discordant for the Russell-Silver 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=2987339

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes.

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.246

Clinically distinct epigenetic subgroups in Silver-Russell syndrome: the degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.246

Role of the Dnmt3 family in de novo methylation of imprinted and repetitive sequences during male germ cell development in the mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.246

ICR1 epimutations in llp15 are restricted to patients with Silver-Russell syndrome features

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.246

Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.246

Monozygotic female twins discordant for Silver-Russell syndrome and hypomethylation of the H19-DMR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.246

Abnormal methylation at the KvDMR1 imprinting control region in clinically normal children conceived by assisted reproductive technologies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.246

Mouse mutants lacking the type 2 IGF receptor (IGF2R) are rescued from perinatal lethality in Igf2 and Igf1r null backgrounds

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.246

Epigenetic abnormalities of the mannose-6-phosphate/IGF2 receptor gene are uncommon in human overgrowth syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.246

No evidence for additional imprinting defects in Silver-Russell syndrome patients with maternal uniparental disomy 7 or 11p15 epimutation.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987339

Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies

27 October 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.246

Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome

21 January 2018

1 reference

12 December 2020

Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation

1 reference

12 December 2020

Aberrant imprinting of the insulin-like growth factor II receptor gene in Wilms' tumor

1 reference

12 December 2020

(Epi)mutations in 11p15 significantly contribute to Silver-Russell syndrome: but are they generally involved in growth retardation?

1 reference

12 December 2020

11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations

1 reference

12 December 2020

No evidence for isolated imprinting mutations in the PEG1/MEST locus in Silver-Russell patients

1 reference

12 December 2020

Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprintedDLK1/GTL2gene cluster

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

Epigenetic change in IGF2R is associated with fetal overgrowth after sheep embryo culture

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2009.246

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Dimensions Publication ID

1 August 2017

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1 August 2017

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