(Q54595461)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23913548%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

title

Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23913548%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23913548%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Deborah Jg Mackay

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23913548%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

author name string

Rebecca L Poole

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23913548%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Louise E Docherty

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23913548%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Abeer Al Sayegh

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23913548%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Claire Turner

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23913548%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Emma Baple

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23913548%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Emma Wakeling

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23913548%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Lucy Harrison

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23913548%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Anna Lehmann

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23913548%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

I Karen Temple

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23913548%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

International Clinical Imprinting Consortium

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23913548%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

language of work or name

English

0 references

publication date

2 August 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23913548%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

6 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23913548%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

volume

161A

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23913548%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23913548%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

page(s)

2174-2182

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23913548%20AND%20SRC:MED&resulttype=core&format=json

Lessons from imprinted multilocus loss of methylation in human syndromes: A step toward understanding the mechanisms underlying these complex diseases.

6 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36049

An atypical case of hypomethylation at multiple imprinted loci

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36049

Imprinting errors and developmental asymmetry

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36049

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36049

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36049

Prader-Willi syndrome and Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36049

A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36049

Maternal UPD 20 in a hyperactive child with severe growth retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36049

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36049

Further refinement of the critical minimal genetic region for the imprinting disorder 6q24 transient neonatal diabetes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36049

Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36049

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/10.1002%2FAJMG.A.36049

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/10.1002%2FAJMG.A.36049

Mechanisms of imprint dysregulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36049

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36049

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36049

A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36049

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36049

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36049

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36049

Beckwith Wiedemann imprinting defect found in leucocyte but not buccal DNA in a child born small for gestational age

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36049

Molecular mechanisms regulating phenotypic outcome in paternal and maternal uniparental disomy for chromosome 14.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36049

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36049

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36049

Uniparental disomy and the phenotype of mosaic trisomy 20: a new case and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36049

DNA methylation and human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36049

Methylation levels at imprinting control regions are not altered with ovulation induction or in vitro fertilization in a birth cohort

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36049

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/10.1002%2FAJMG.A.36049

Dynamic CpG island methylation landscape in oocytes and preimplantation embryos

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36049

Reproductive outcomes after assisted conception

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36049

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36049

Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36049

21 January 2018

Imprinting and disease

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36049

Aberrant DNA methylation of imprinted loci in human spontaneous abortions after assisted reproduction techniques and natural conception

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36049

Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36049

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.36049

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23913548%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

1 reference