Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings (Q47572023)

4 February 2018

title

Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings (English)

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Susanne E Boonen

1

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Sven Pörksen

2

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Deborah Jg Mackay

3

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Elsebet Oestergaard

4

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Birthe Olsen

5

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Karen Brondum-Nielsen

6

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I Karen Temple

7

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Johanne Md Hahnemann

8

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publication date

16 January 2008

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European Journal of Human Genetics

published in

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volume

16

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issue

4

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4 February 2018

page(s)

453-461

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201993

exact match

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cites work

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

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

21 January 2018

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

21 January 2018

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De novo quantitative bisulfite sequencing using the pyrosequencing technology.

21 January 2018

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

21 January 2018

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Inherited epigenetic variation--revisiting soft inheritance

21 January 2018

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Assisted reproduction: the epigenetic perspective

21 January 2018

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Transient neonatal diabetes, a disorder of imprinting.

21 January 2018

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

21 January 2018

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

21 January 2018

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A global disorder of imprinting in the human female germ line.

21 January 2018

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Maternal alleles acquiring paternal methylation patterns in biparental complete hydatidiform moles

21 January 2018

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

21 January 2018

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

21 January 2018

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Genomic imprinting disrupted by a maternal effect mutation in the Dnmt1 gene.

21 January 2018

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Dnmt3L and the establishment of maternal genomic imprints.

21 January 2018

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

21 January 2018

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A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus

21 January 2018

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7 January 2021

Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology

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7 January 2021

Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases

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7 January 2021

Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB

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7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201993

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4 February 2018

Dimensions Publication ID

1046895014

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4 February 2018