Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes (Q85927748)

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22 February 2020

title

Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes (English)

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22 February 2020

author

Isabel Iglesias-Platas

5

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Guiomar Perez de Nanclares

22 February 2020

8

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22 February 2020

4

Intza Garin

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22 February 2020

author name string

Franck Court

1

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22 February 2020

Alex Martin-Trujillo

2

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22 February 2020

Valeria Romanelli

3

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22 February 2020

Ira Salafsky

6

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22 February 2020

Miriam Guitart

7

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22 February 2020

Pablo Lapunzina

9

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22 February 2020

David Monk

10

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22 February 2020

publication date

19 February 2013

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22 February 2020

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22 February 2020

volume

34

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22 February 2020

issue

4

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22 February 2020

page(s)

595-602

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A method and server for predicting damaging missense mutations

22 February 2020

cites work

1 reference

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7 January 2021

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

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7 January 2021

Genomic imprinting: employing and avoiding epigenetic processes

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings

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7 January 2021

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

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7 January 2021

Prader-Willi syndrome and Angelman syndrome

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7 January 2021

RB1, development, and cancer

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7 January 2021

Changes in DNA methylation of tandem DNA repeats are different from interspersed repeats in cancer

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7 January 2021

Beckwith-Wiedemann syndrome

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7 January 2021

Epigenetic properties and identification of an imprint mark in the Nesp-Gnasxl domain of the mouse Gnas imprinted locus.

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7 January 2021

Is there a genomically imprinted social brain?

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7 January 2021

Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders

1 reference

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7 January 2021

Russell-Silver syndrome

1 reference

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7 January 2021

Genetic and epigenetic analysis of recurrent hydatidiform mole.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22276

7 January 2021

Characterization of novel paternal ncRNAs at the Plagl1 locus, including Hymai, predicted to interact with regulators of active chromatin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22276

7 January 2021

Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22276

7 January 2021

The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22276

7 January 2021

Imprinting on chromosome 20: tissue-specific imprinting and imprinting mutations in the GNAS locus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22276

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22276

7 January 2021

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

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7 January 2021

Epigenetic modifications in an imprinting cluster are controlled by a hierarchy of DMRs suggesting long-range chromatin interactions.

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7 January 2021

A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22276

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.22276

7 January 2021

Transient neonatal diabetes mellitus type 1.

1 reference

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7 January 2021

Trim28 is required for epigenetic stability during mouse oocyte to embryo transition.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22276

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22276

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22276

7 January 2021

Methylation screening of reciprocal genome-wide UPDs identifies novel human-specific imprinted genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22276

7 January 2021

Genome-wide analysis of KAP1 binding suggests autoregulation of KRAB-ZNFs

1 reference

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7 January 2021

Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22276

7 January 2021

Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22276

7 January 2021

Different measures of "genome-wide" DNA methylation exhibit unique properties in placental and somatic tissues

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22276

7 January 2021

Women heterozygous for NALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22276

7 January 2021

In embryonic stem cells, ZFP57/KAP1 recognize a methylated hexanucleotide to affect chromatin and DNA methylation of imprinting control regions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22276

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22276

7 January 2021

Dynamic CpG island methylation landscape in oocytes and preimplantation embryos

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22276

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22276

7 January 2021

Dynamic stage-specific changes in imprinted differentially methylated regions during early mammalian development and prevalence of non-CpG methylation in oocytes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22276

7 January 2021

KRAB-containing zinc-finger repressor proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22276

7 January 2021

Biparental hydatidiform moles: a maternal effect mutation affecting imprinting in the offspring

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22276

7 January 2021

Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22276

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22276

7 January 2021

Identification of an imprinting control region affecting the expression of all transcripts in the Gnas cluster.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22276

7 January 2021

Deficiency of Rbbp1/Arid4a and Rbbp1l1/Arid4b alters epigenetic modifications and suppresses an imprinting defect in the PWS/AS domain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22276

7 January 2021

The H19 locus acts in vivo as a tumor suppressor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22276

7 January 2021

NOEY2 (ARHI), an imprinted putative tumor suppressor gene in ovarian and breast carcinomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22276

7 January 2021

Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype.

1 reference

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7 January 2021

Expression analysis of the NLRP gene family suggests a role in human preimplantation development

1 reference

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7 January 2021

Identifiers

DOI

10.1002/HUMU.22276

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23335487%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference