Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/ejhg2008197.pdf
Reference16 articles.
1. Weksberg R, Shuman C, Smith AC : Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet 2005; 137: 12–23.
2. Gicquel C, Rossignol S, Cabrol S et al: Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet 2005; 37: 1003–1007.
3. Bliek J, Terhal P, van den Bogaard MJ et al: Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype. Am J Hum Genet 2006; 78: 604–614.
4. Eggermann T, Schönherr N, Meyer E et al: Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain. J Med Genet 2006; 43: 615–616.
5. Bliek J, Maas SM, Ruijter JM et al: Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS. Hum Mol Genet 2001; 10: 467–476.
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