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6. Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1. Weksberg R, Nishikawa J, Caluseriu O, Fei YL, Shuman C, Wei C, Steele L, Cameron J, Smith A, Ambus I, Li M, Ray PN, Sadowski P, Squire J. Hum Mol Genet; 2001 Dec 15; 10(26):2989-3000. PubMed ID: 11751681 [Abstract] [Full Text] [Related]
11. Seven megabase yeast artificial chromosome contig at region 11p15: identification of a yeast artificial chromosome spanning the breakpoint of a chromosomal translocation found in a case of Beckwith-Wiedemann syndrome. Negrini M, Sabbioni S, Ohta M, Veronese ML, Rattan S, Junien C, Croce CM. Cancer Res; 1995 Jul 01; 55(13):2904-9. PubMed ID: 7796419 [Abstract] [Full Text] [Related]
12. Low frequency of p57KIP2 mutation in Beckwith-Wiedemann syndrome. Lee MP, DeBaun M, Randhawa G, Reichard BA, Elledge SJ, Feinberg AP. Am J Hum Genet; 1997 Aug 01; 61(2):304-9. PubMed ID: 9311734 [Abstract] [Full Text] [Related]
13. 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. Proc Natl Acad Sci U S A; 1999 Apr 27; 96(9):5203-8. PubMed ID: 10220444 [Abstract] [Full Text] [Related]
18. Imprinting of the gene encoding a human cyclin-dependent kinase inhibitor, p57KIP2, on chromosome 11p15. Matsuoka S, Thompson JS, Edwards MC, Bartletta JM, Grundy P, Kalikin LM, Harper JW, Elledge SJ, Feinberg AP. Proc Natl Acad Sci U S A; 1996 Apr 02; 93(7):3026-30. PubMed ID: 8610162 [Abstract] [Full Text] [Related]
19. Targeted disruption of the human LIT1 locus defines a putative imprinting control element playing an essential role in Beckwith-Wiedemann syndrome. Horike S, Mitsuya K, Meguro M, Kotobuki N, Kashiwagi A, Notsu T, Schulz TC, Shirayoshi Y, Oshimura M. Hum Mol Genet; 2000 Sep 01; 9(14):2075-83. PubMed ID: 10958646 [Abstract] [Full Text] [Related]
20. A radiation hybrid map of the distal short arm of human chromosome 11, containing the Beckwith-Wiedemann and associated embryonal tumor disease loci. Richard CW, Boehnke M, Berg DJ, Lichy JH, Meeker TC, Hauser E, Myers RM, Cox DR. Am J Hum Genet; 1993 May 01; 52(5):915-21. PubMed ID: 8387721 [Abstract] [Full Text] [Related] Page: [Next] [New Search]