Article
Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome.
American journal of medical genetics. Part A - 1 Nov 2009
Horike Shin-Ichi, Ferreira Jose Carlos P, Meguro-Horike Makiko, Choufani Sanaa, Smith Adam C, Shuman Cheryl, Meschino Wendy, Chitayat David, Zackai Elaine, Scherer Stephen W, Weksberg Rosanna
Abstract excerpt
Over a 10-year period blood samples were collected from 57 individuals with growth restriction and RSS-like features. Our goal was to identify epigenetic abnormalities in this cohort, including uniparental disomy of chromosome 7 (UPD7), methylation changes at chromosome 11p15, as well as new epig...
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