A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlyin...
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes
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Full title
Author / Creator
Russo, Silvia , Calzari, Luciano , Mussa, Alessandro , Mainini, Ester , Cassina, Matteo , Di Candia, Stefania , Clementi, Maurizio , Guzzetti, Sara , Tabano, Silvia , Miozzo, Monica , Sirchia, Silvia , Finelli, Palma , Prontera, Paolo , Maitz, Silvia , Sorge, Giovanni , Calcagno, Annalisa , Maghnie, Mohamad , Divizia, Maria Teresa , Melis, Daniela , Manfredini, Emanuela , Ferrero, Giovanni Battista , Pecile, Vanna and Larizza, Lidia
Publisher
Germany: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
Germany: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
Multiple (epi)genetic defects affecting the expression of the imprinted genes within the 11p15.5 chromosomal region underlie Silver-Russell (SRS) and Beckwith-Wiedemann (BWS) syndromes. The molecular diagnosis of these opposite growth disorders requires a multi-approach flowchart to disclose known primary and secondary (epi)genetic alterations; how...
Alternative Titles
Full title
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes
Authors, Artists and Contributors
Author / Creator
Calzari, Luciano
Mussa, Alessandro
Mainini, Ester
Cassina, Matteo
Di Candia, Stefania
Clementi, Maurizio
Guzzetti, Sara
Tabano, Silvia
Miozzo, Monica
Sirchia, Silvia
Finelli, Palma
Prontera, Paolo
Maitz, Silvia
Sorge, Giovanni
Calcagno, Annalisa
Maghnie, Mohamad
Divizia, Maria Teresa
Melis, Daniela
Manfredini, Emanuela
Ferrero, Giovanni Battista
Pecile, Vanna
Larizza, Lidia
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4772365
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4772365
Other Identifiers
ISSN
1868-7075,1868-7083
E-ISSN
1868-7083,1868-7075
DOI
10.1186/s13148-016-0183-8
