(Q47572023)

4 February 2018

title

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

1 reference

4 February 2018

0 references

1 reference

Susanne E Boonen

1

1 reference

4 February 2018

Sven Pörksen

2

1 reference

4 February 2018

Deborah Jg Mackay

3

1 reference

4 February 2018

Elsebet Oestergaard

4

1 reference

4 February 2018

Birthe Olsen

5

1 reference

4 February 2018

Karen Brondum-Nielsen

6

1 reference

4 February 2018

I Karen Temple

7

1 reference

4 February 2018

Johanne Md Hahnemann

8

1 reference

4 February 2018

publication date

16 January 2008

1 reference

4 February 2018

European Journal of Human Genetics

published in

1 reference

4 February 2018

volume

16

1 reference

4 February 2018

issue

4

1 reference

4 February 2018

page(s)

453-461

1 reference

4 February 2018

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

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201993

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201993

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201993

De novo quantitative bisulfite sequencing using the pyrosequencing technology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201993

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201993

Inherited epigenetic variation--revisiting soft inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201993

Assisted reproduction: the epigenetic perspective

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201993

Transient neonatal diabetes, a disorder of imprinting.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201993

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201993

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201993

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201993

Maternal alleles acquiring paternal methylation patterns in biparental complete hydatidiform moles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201993

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201993

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201993

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201993

Dnmt3L and the establishment of maternal genomic imprints.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201993

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201993

A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201993

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201993

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201993

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201993

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201993

1 reference

4 February 2018

Dimensions Publication ID

0 references

1 reference

4 February 2018