Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes

This article is an update of the best practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes published in 2010 in BMC Medical Genetics [1]. The update takes into account developments in terms of techniques, differential diagnoses and (especially) reporting standards. I...

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Autores principales: Beygo, Jasmin, Buiting, Karin, Ramsden, Simon C., Ellis, Rachael, Clayton-Smith, Jill, Kanber, Deniz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2019
Materias:
Policy
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777528/
https://www.ncbi.nlm.nih.gov/pubmed/31235867
http://dx.doi.org/10.1038/s41431-019-0435-0
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author Beygo, Jasmin
Buiting, Karin
Ramsden, Simon C.
Ellis, Rachael
Clayton-Smith, Jill
Kanber, Deniz
author_facet Beygo, Jasmin
Buiting, Karin
Ramsden, Simon C.
Ellis, Rachael
Clayton-Smith, Jill
Kanber, Deniz
author_sort Beygo, Jasmin
collection PubMed
description This article is an update of the best practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes published in 2010 in BMC Medical Genetics [1]. The update takes into account developments in terms of techniques, differential diagnoses and (especially) reporting standards. It highlights the advantages and disadvantages of each method and moreover, is meant to facilitate the interpretation of the obtained results - leading to improved standardised reports.
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spelling pubmed-67775282019-10-07 Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes Beygo, Jasmin Buiting, Karin Ramsden, Simon C. Ellis, Rachael Clayton-Smith, Jill Kanber, Deniz Eur J Hum Genet Policy This article is an update of the best practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes published in 2010 in BMC Medical Genetics [1]. The update takes into account developments in terms of techniques, differential diagnoses and (especially) reporting standards. It highlights the advantages and disadvantages of each method and moreover, is meant to facilitate the interpretation of the obtained results - leading to improved standardised reports. Springer International Publishing 2019-06-24 2019-09 /pmc/articles/PMC6777528/ /pubmed/31235867 http://dx.doi.org/10.1038/s41431-019-0435-0 Text en © The Author(s) 2019 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Policy
Beygo, Jasmin
Buiting, Karin
Ramsden, Simon C.
Ellis, Rachael
Clayton-Smith, Jill
Kanber, Deniz
Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes
title Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes
title_full Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes
title_fullStr Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes
title_full_unstemmed Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes
title_short Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes
title_sort update of the emqn/acgs best practice guidelines for molecular analysis of prader-willi and angelman syndromes
topic Policy
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777528/
https://www.ncbi.nlm.nih.gov/pubmed/31235867
http://dx.doi.org/10.1038/s41431-019-0435-0
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