Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver-Russell syndrome-Reference-Cited by-同舟云学术

Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver-Russell syndrome

Published:2013-02-07 Issue:3 Volume:161 Page:572-577
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Ghanim Mustafa,Rossignol Sylvie,Delobel Bruno,Irving Melita,Miller Owen,Devisme Louise,Plennevaux Jean-Louis,Lucidarme-Rossi Sophie,Manouvrier Sylvie,Salah Azzi,Chivu Olimpia,Netchine Irène,Vincent-Delorme Catherine

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference30 articles.

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2. Gastrointestinal complications of Russell-Silver syndrome: a pilot study;Anderson;Am J Med Genet,2002

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

4. Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype;Bliek;Am J Hum Genet,2006

5. Clinically distinct epigenetic subgroups in Silver-Russell syndrome: The degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies;Bruce;J Clin Endocrinol Metab,2009

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