Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12530/26562
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dc.contributor.authorEggermann, Katja
dc.contributor.authorBliek, Jet
dc.contributor.authorBrioude, Frédéric
dc.contributor.authorAlgar, Elizabeth
dc.contributor.authorBuiting, Karin
dc.contributor.authorRusso, Silvia
dc.contributor.authorTümer, Zeynep
dc.contributor.authorMonk, David
dc.contributor.authorMoore, Gudrun
dc.contributor.authorAntoniadi, Thalia
dc.contributor.authorMacdonald, Fiona
dc.contributor.authorNetchine, Irène
dc.contributor.authorLombardi, Paolo
dc.contributor.authorSoellner, Lukas
dc.contributor.authorBegemann, Matthias
dc.contributor.authorPrawitt, Dirk
dc.contributor.authorMaher, Eamonn R
dc.contributor.authorMannens, Marcel
dc.contributor.authorRiccio, Andrea
dc.contributor.authorWeksberg, Rosanna
dc.contributor.authorLapunzina, Pablo
dc.contributor.authorGrønskov, Karen
dc.contributor.authorMackay, Deborah Jg
dc.contributor.authorEggermann, Thomas
dc.date.accessioned2019-06-28T14:59:27Z-
dc.date.available2019-06-28T14:59:27Z-
dc.date.issued2016
dc.identifier.citationEur. J. Hum. Genet..2016 10;(24)10:1377-87
dc.identifier.urihttps://hdl.handle.net/20.500.12530/26562-
dc.description.abstractMolecular genetic testing for the 11p15-associated imprinting disorders Silver-Russell and Beckwith-Wiedemann syndrome (SRS, BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions. With the growing knowledge on the molecular basis of these disorders and the demand for molecular testing, it turned out that there is an urgent need for a standardized molecular diagnostic testing and reporting strategy. Based on the results from the first external pilot quality assessment schemes organized by the European Molecular Quality Network (EMQN) in 2014 and in context with activities of the European Network of Imprinting Disorders (EUCID.net) towards a consensus in diagnostics and management of SRS and BWS, best practice guidelines have now been developed. Members of institutions working in the field of SRS and BWS diagnostics were invited to comment, and in the light of their feedback amendments were made. The final document was ratified in the course of an EMQN best practice guideline meeting and is in accordance with the general SRS and BWS consensus guidelines, which are in preparation. These guidelines are based on the knowledge acquired from peer-reviewed and published data, as well as observations of the authors in their practice. However, these guidelines can only provide a snapshot of current knowledge at the time of manuscript submission and readers are advised to keep up with the literature.
dc.language.isoeng
dc.rightsopenAccess-
dc.subject.meshBeckwith-Wiedemann Syndrome
dc.subject.meshChromosomes, Human, Pair 11
dc.subject.meshEurope
dc.subject.meshGenetic Testing
dc.subject.meshGenomic Imprinting
dc.subject.meshHumans
dc.subject.meshSilver-Russell Syndrome
dc.subject.meshSocieties, Medical
dc.subject.meshPractice Guidelines as Topic
dc.titleEMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.
dc.typeArtículo
dc.identifier.pubmedID27165005
dc.format.volume24
dc.format.page1377-87
dc.identifier.e-issn1476-5438
dc.identifier.journalEuropean journal of human genetics : EJHG
dc.identifier.doi10.1038/ejhg.2016.45
dc.format.number10
dc.identifier.pmcPMC5027690
dc.pubmedtypeJournal Article
dc.pubmedtypeResearch Support, Non-U.S. Gov't
Appears in Collections:Fundaciones e Institutos de Investigación > IIS H. U. La Paz > Artículos
Hospitales > H. U. La Paz > Artículos

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