Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings. - Wikidata - wikimedia - TriplyDB

Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings.

Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings.

http://www.wikidata.org/entity/Q47572023

about

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57 Associations between methylation of paternally expressed gene 3 (PEG3), cervical intraepithelial neoplasia and invasive cervical cancer.A review of known imprinting syndromes and their association with assisted reproduction technologies.Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up DNA methyltransferase 1o functions during preimplantation development to preclude a profound level of epigenetic variation Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes.Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.Multilocus methylation defects in imprinting disorders.Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b.Human exposure to flame-retardants is associated with aberrant DNA methylation at imprinted genes in sperm.PLAGL1 epimutation and bladder exstrophy: Coincidence or concurrent etiology?Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation.Silver-Russell syndrome due to paternal H19/IGF2 hypomethylation in a twin girl born after in vitro fertilization.A familial disorder of altered DNA-methylation

P2860

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P2860

Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings.

http://www.wikidata.org/entity/Q47572023

description

2008 nî lūn-bûn

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2008年の論文

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年学术文章

@zh-sg

2008年學術文章

@yue

2008年學術文章

@zh

2008年學術文章

@zh-hant

name

Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings.

@en

Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings.

@nl

type

label

Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings.

@en

Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings.

@nl

prefLabel

Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings.

@en

Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings.

@nl

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SJ.EJHG.5201993

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European Journal of Human Genetics

P1476

Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings.

@en

P2093

Birthe Olsen

http://www.w3.org/2001/XMLSchema#string

Deborah Jg Mackay

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Elsebet Oestergaard

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I Karen Temple

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Johanne Md Hahnemann

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Karen Brondum-Nielsen

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Susanne E Boonen

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Sven Pörksen

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P2860

Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF)

Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene

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

Inherited epigenetic variation--revisiting soft inheritance

LIT1, an imprinted antisense RNA in the human KvLQT1 locus identified by screening for differentially expressed transcripts using monochromosomal hybrids.

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

Transient neonatal diabetes, a disorder of imprinting.

Assisted reproduction: the epigenetic perspective.

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

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

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sj.ejhg.5201993

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453-461

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10.1038/SJ.EJHG.5201993

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4

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1046895014

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P921

maternal health