EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 im...
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome
About this item
Full title
Author / Creator
Eggermann, Katja , Bliek, Jet , Brioude, Frédéric , Algar, Elizabeth , Buiting, Karin , Russo, Silvia , Tümer, Zeynep , Monk, David , Moore, Gudrun , Antoniadi, Thalia , Macdonald, Fiona , Netchine, Irène , Lombardi, Paolo , Soellner, Lukas , Begemann, Matthias , Prawitt, Dirk , Maher, Eamonn R , Mannens, Marcel , Riccio, Andrea , Weksberg, Rosanna , Lapunzina, Pablo , Grønskov, Karen , Mackay, Deborah JG and Eggermann, Thomas
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
Molecular 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...
Alternative Titles
Full title
EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver–Russell and Beckwith–Wiedemann syndrome
Authors, Artists and Contributors
Author / Creator
Bliek, Jet
Brioude, Frédéric
Algar, Elizabeth
Buiting, Karin
Russo, Silvia
Tümer, Zeynep
Monk, David
Moore, Gudrun
Antoniadi, Thalia
Macdonald, Fiona
Netchine, Irène
Lombardi, Paolo
Soellner, Lukas
Begemann, Matthias
Prawitt, Dirk
Maher, Eamonn R
Mannens, Marcel
Riccio, Andrea
Weksberg, Rosanna
Lapunzina, Pablo
Grønskov, Karen
Mackay, Deborah JG
Eggermann, Thomas
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5027690
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5027690
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2016.45
