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A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes

MUSSA, ALESSANDRO;MELIS, daniela;FERRERO, Giovanni Battista;
2016-01-01
2016
CLINICAL EPIGENETICS
8
1
23
38
http://www.springer.com/biomed/human+genetics/journal/13148
Beckwith–Wiedemann syndrome; Borderline cases; Molecular diagnosis; Mosaic (epi)genetic alterations; MS-MLPA; Multi-method approach; Pyrosequencing; Silver–Russell syndrome; SNP array; Southern blot; Beckwith-Wiedemann Syndrome; Blotting, Southern; Child; Child, Preschool; Chromosomes, Human, Pair 11; CpG Islands; DNA Methylation; Epigenesis, Genetic; Female; Humans; Infant; Male; Mosaicism; Multiplex Polymerase Chain Reaction; Oligonucleotide Array Sequence Analysis; Silver-Russell Syndrome; Genetics; Molecular Biology; Developmental Biology; Genetics (clinical)
Russo, Silvia; Calzari, Luciano; Mussa, Alessandro; Mainini, Ester; Cassina, Matteo; Di Candia, Stefania; Clementi, Maurizio; Guzzetti, Sara; Tabano, ...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/1614284
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