A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith–Wiedemann syndrome-Reference-Cited by-同舟云学术

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A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith–Wiedemann syndrome

Published:2011-07 Issue:4 Volume:54 Page:e451-e454
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

De Crescenzo Agostina,Coppola Filomena,Falco Pietro,Bernardo Italo,Ausanio Gaetano,Cerrato Flavia,Falco Luigi,Riccio Andrea

Funder

Telethon- Italia

Associazione Italiana Ricerca sul Cancro

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference11 articles.

1. Beckwith–Wiedemann syndrome;Weksberg;Eur. J. Hum. Genet.,2010

2. Genomic imprinting: employing and avoiding epigenetic processes;Bartolomei;Genes Dev.,2009

3. Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith–Wiedemann syndrome and Silver-Russell syndrome;Nativio;Hum. Mol. Genet.,2011

4. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver–Russell syndrome;Gicquel;Nat. Genet.,2005

5. Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith–Wiedemann;Sparago;Nat. Genet.,2004

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