Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders-Reference-Cited by-同舟云学术

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

Published:2013-08-02 Issue:9 Volume:161 Page:2174-2182
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Poole Rebecca L.¹²,Docherty Louise E.¹²,Al Sayegh Abeer¹²,Caliebe Almuth¹²,Turner Claire³,Baple Emma⁴,Wakeling Emma⁵,Harrison Lucy¹²⁶,Lehmann Anna¹²,Temple I. Karen¹²,Mackay Deborah J.G.¹²,

Affiliation:

1. Faculty of Medicine; University of Southampton; Southampton UK

2. Wessex Genetics Service, University Hospital Trust; Southampton, and Salisbury Hospital NHS Foundation Trust; Salisbury UK

3. Peninsula Genetic Service; Royal Devon and Exeter Hospital; Exeter UK

4. Centre for Human Genetics; St. George's, University of London; London UK

5. North West Thames Regional Genetics Service; North West London Hospitals NHS Trust; Harrow UK

6. Comprehensive Local Research Network (Hampshire & Isle of Wight); Hampshire UK

Funder

Newlife Foundation for Disabled Children

Hampshire and the Isle of Wight NIHR Comprehensive Local Research Network

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36049/fullpdf

Reference47 articles.

1. Multilocus 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;Azzi;Hum Mol Genet,2009

2. Lessons from imprinted multilocus loss of methylation in human syndromes;Azzi;Epigenetics,2010

3. An atypical case of hypomethylation at multiple imprinted loci;Baple;Eur J Hum Genet,2011

4. Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib;Bastepe;Nat Genet,2005

5. Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues;Begemann;Clin Genet,2010

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