New insights into the pathogenesis of beckwith-wiedemann and silver-russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects-Reference-Cited by-同舟云学术

New insights into the pathogenesis of beckwith-wiedemann and silver-russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects

Published:2011-09-08 Issue:10 Volume:32 Page:1171-1182
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Demars Julie,Rossignol Sylvie,Netchine Irène,Lee Kai Syin,Shmela Mansur,Faivre Laurence,Weill Jacques,Odent Sylvie,Azzi Salah,Callier Patrick,Lucas Josette,Dubourg Christèle,Andrieux Joris,Le Bouc Yves,El-Osta Assam,Gicquel Christine

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21558/fullpdf

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2. Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci;Azzi;Hum Mol Genet,2009

3. Allele-specific methylated multiplex quantitative PCR (ASMM-QPCR/), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell-Silver and Beckwith-Wiedemann syndromes;Azzi;Hum Mutat,2011

4. A novel H19 antisense RNA overexpressed in breast cancer contributes to paternal IGF2 expression;Berteaux;Mol Cell Biol,2008

5. Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells;Bliek;Eur J Hum Genet,2009a

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