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10. Coding mutations in p57KIP2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms tumors. O'Keefe D; Dao D; Zhao L; Sanderson R; Warburton D; Weiss L; Anyane-Yeboa K; Tycko B Am J Hum Genet; 1997 Aug; 61(2):295-303. PubMed ID: 9311733 [TBL] [Abstract][Full Text] [Related]
11. 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. Demars J; Shmela ME; Rossignol S; Okabe J; Netchine I; Azzi S; Cabrol S; Le Caignec C; David A; Le Bouc Y; El-Osta A; Gicquel C Hum Mol Genet; 2010 Mar; 19(5):803-14. PubMed ID: 20007505 [TBL] [Abstract][Full Text] [Related]
12. Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway. Brown KW; Villar AJ; Bickmore W; Clayton-Smith J; Catchpoole D; Maher ER; Reik W Hum Mol Genet; 1996 Dec; 5(12):2027-32. PubMed ID: 8968759 [TBL] [Abstract][Full Text] [Related]
13. 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; 10(26):2989-3000. PubMed ID: 11751681 [TBL] [Abstract][Full Text] [Related]
14. Rapid detection of methylation change at H19 in human imprinting disorders using methylation-sensitive high-resolution melting. Wojdacz TK; Dobrovic A; Algar EM Hum Mutat; 2008 Oct; 29(10):1255-60. PubMed ID: 18473334 [TBL] [Abstract][Full Text] [Related]
15. Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome. Sparago A; Cerrato F; Vernucci M; Ferrero GB; Silengo MC; Riccio A Nat Genet; 2004 Sep; 36(9):958-60. PubMed ID: 15314640 [TBL] [Abstract][Full Text] [Related]
16. A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family. Jurkiewicz D; Kugaudo M; Skórka A; Śmigiel R; Smyk M; Ciara E; Chrzanowska K; Krajewska-Walasek M Am J Med Genet A; 2017 Jan; 173(1):72-78. PubMed ID: 27612309 [TBL] [Abstract][Full Text] [Related]
17. Oppositely imprinted genes p57(Kip2) and igf2 interact in a mouse model for Beckwith-Wiedemann syndrome. Caspary T; Cleary MA; Perlman EJ; Zhang P; Elledge SJ; Tilghman SM Genes Dev; 1999 Dec; 13(23):3115-24. PubMed ID: 10601037 [TBL] [Abstract][Full Text] [Related]
18. Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome. Catchpoole D; Lam WW; Valler D; Temple IK; Joyce JA; Reik W; Schofield PN; Maher ER J Med Genet; 1997 May; 34(5):353-9. PubMed ID: 9152830 [TBL] [Abstract][Full Text] [Related]
19. Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor. Prawitt D; Enklaar T; Gärtner-Rupprecht B; Spangenberg C; Oswald M; Lausch E; Schmidtke P; Reutzel D; Fees S; Lucito R; Korzon M; Brozek I; Limon J; Housman DE; Pelletier J; Zabel B Proc Natl Acad Sci U S A; 2005 Mar; 102(11):4085-90. PubMed ID: 15743916 [TBL] [Abstract][Full Text] [Related]
20. Imprinting in clusters: lessons from Beckwith-Wiedemann syndrome. Reik W; Maher ER Trends Genet; 1997 Aug; 13(8):330-4. PubMed ID: 9260520 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]