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Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome.
Niemitz EL, DeBaun MR, Fallon J, Murakami K, Kugoh H, Oshimura M, Feinberg AP. Niemitz EL, et al. Among authors: feinberg ap. Am J Hum Genet. 2004 Nov;75(5):844-9. doi: 10.1086/425343. Epub 2004 Sep 15. Am J Hum Genet. 2004. PMID: 15372379 Free PMC article.
Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting.
Lee MP, DeBaun MR, Mitsuya K, Galonek HL, Brandenburg S, Oshimura M, Feinberg AP. Lee MP, et al. Among authors: feinberg ap. Proc Natl Acad Sci U S A. 1999 Apr 27;96(9):5203-8. doi: 10.1073/pnas.96.9.5203. Proc Natl Acad Sci U S A. 1999. PMID: 10220444 Free PMC article.
277 results