Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

Matthias Begemann; Faisal I Rezwan; Jasmin Beygo; Louise E Docherty; Julia Kolarova; Christopher Schroeder; Karin Buiting; Kamal Chokkalingam; Franziska Degenhardt; Emma L Wakeling; Stephanie Kleinle; Daniela González Fassrainer; Barbara Oehl-Jaschkowitz; Claire L S Turner; Michal Patalan; Maria Gizewska; Gerhard Binder; Can Thi Bich Ngoc; Vu Chi Dung; Sarju G Mehta; Gareth Baynam; Julian P Hamilton-Shield; Sara Aljareh; Oluwakemi Lokulo-Sodipe; Rachel Horton; Reiner Siebert; Miriam Elbracht; Isabel Karen Temple; Thomas Eggermann; Deborah J G Mackay

doi:10.1136/jmedgenet-2017-105190

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Epigenetics

Original article

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

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Matthias Begemann Institute of Human Genetics, RWTH Aachen University, Aachen, Germany PubMed articles Google scholar articles
Faisal I Rezwan Faculty of Medicine, University of Southampton, Southampton, UK PubMed articles Google scholar articles
Jasmin Beygo Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany PubMed articles Google scholar articles
Louise E Docherty MRC Human Genetics Unit, The Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK PubMed articles Google scholar articles
Julia Kolarova Institute of Human Genetics, University of Ulm, Ulm, Germany PubMed articles Google scholar articles
Christopher Schroeder Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany PubMed articles Google scholar articles
Karin Buiting Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany PubMed articles Google scholar articles
Kamal Chokkalingam Department of Diabetic Medicine, Nottingham University Hospital NHS Trust, Nottingham, UK PubMed articles Google scholar articles
Franziska Degenhardt Institute of Human Genetics, Bonn, Germany PubMed articles Google scholar articles
Emma L Wakeling North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, London, UK PubMed articles Google scholar articles
Stephanie Kleinle Medical Genetics Center München, München, Germany PubMed articles Google scholar articles
Daniela González Fassrainer Medical Genetics Center München, München, Germany PubMed articles Google scholar articles
Barbara Oehl-Jaschkowitz Praxis für Humangenetik Homburg, Homburg, Germany PubMed articles Google scholar articles
Claire L S Turner Peninsula Genetics Service, Royal Devon and Exeter Hospital, Exeter, UK PubMed articles Google scholar articles
Michal Patalan Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University, Szczecin, Poland PubMed articles Google scholar articles
Maria Gizewska Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology, Pomeranian Medical University, Szczecin, Poland PubMed articles Google scholar articles
Gerhard Binder Pediatric Endocrinology, University Children’s Hospital, Tübingen, Germany PubMed articles Google scholar articles
Can Thi Bich Ngoc Department of Medical Genetics, Metabolism and Endocrinology, The National Children’s Hospital, Hanoi, Vietnam PubMed articles Google scholar articles
Vu Chi Dung Department of Medical Genetics, Metabolism and Endocrinology, The National Children’s Hospital, Hanoi, Vietnam PubMed articles Google scholar articles
Sarju G Mehta Department of Clinical Genetics, Cambridge University Hospitals Trust, Cambridge, UK PubMed articles Google scholar articles
Gareth Baynam School of Paediatrics and Child Health, The University of Western Australia, Perth, Western Australia, Australia Genetic Services of Western Australian and Western Australian Register of Developmental Anomalies, Perth, Western Australia, Australia PubMed articles Google scholar articles
Julian P Hamilton-Shield School of Clinical Sciences, University of Bristol, Bristol, UK PubMed articles Google scholar articles
Sara Aljareh Faculty of Medicine, University of Southampton, Southampton, UK PubMed articles Google scholar articles
Oluwakemi Lokulo-Sodipe Faculty of Medicine, University of Southampton, Southampton, UK Wessex Clinical Genetics Service, University Hospital, Southampton, UK PubMed articles Google scholar articles
Rachel Horton Faculty of Medicine, University of Southampton, Southampton, UK Wessex Clinical Genetics Service, University Hospital, Southampton, UK PubMed articles Google scholar articles
Reiner Siebert Institute of Human Genetics, University of Ulm, Ulm, Germany PubMed articles Google scholar articles
Miriam Elbracht Institute of Human Genetics, RWTH Aachen University, Aachen, Germany PubMed articles Google scholar articles
Isabel Karen Temple Faculty of Medicine, University of Southampton, Southampton, UK Wessex Clinical Genetics Service, University Hospital, Southampton, UK PubMed articles Google scholar articles
Thomas Eggermann Institute of Human Genetics, RWTH Aachen University, Aachen, Germany PubMed articles Google scholar articles
Deborah J G Mackay Faculty of Medicine, University of Southampton, Southampton, UK PubMed articles Google scholar articles

Correspondence to Dr Deborah J G Mackay, Faculty of Medicine, University of Southampton, Southampton SP2 8BJ, UK; djgm{at}soton.ac.uk

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Citation

Begemann M, Rezwan FI, Beygo J, et al

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

Journal of Medical Genetics 2018;55:497-504.

Publication history

Received December 1, 2017
Revised January 16, 2018
Accepted February 15, 2018
First published March 24, 2018.

Online issue publication

June 25, 2018

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© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted. This is an open access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http://creativecommons.org/licenses/by/4.0/

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