Concepedia

Beckwith–Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1

Rebecca Poole, Donald J Leith, Louise E Docherty, Mansur E Shmela, Christine Gicquel, Miranda Splitt, I. Karen Temple, Deborah Mackay

European Journal of Human Genetics · 2011 · 65 citations · 7 references

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References

7

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

Deborah Mackay, Jonathan L A Callaway, Sophie M Marks et al. · Nature Genetics · 2008 · 538 citations

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Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome

Angela Sparago, Flavia Cerrato, Maria Vernucci et al. · Nature Genetics · 2004 · 366 citations · Full text

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Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor

Richard H. Scott, Jenny Douglas, Linda Baskcomb et al. · Nature Genetics · 2008 · 197 citations

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Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith–Wiedemann syndrome and Wilms' tumor

Dirk Prawitt, Thorsten Enklaar, Barbara Gärtner-Rupprecht et al. · Proceedings of the National Academy of Sciences · 2005 · 127 citations · Full text

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Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders

Julie Demars, Mansur E Shmela, Sylvie Rossignol et al. · Human Molecular Genetics · 2009 · 124 citations · Full text

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