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331 related items for PubMed ID: 19293570

  • 1. Inherited and Sporadic Epimutations at the IGF2-H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumor.
    Riccio A, Sparago A, Verde G, De Crescenzo A, Citro V, Cubellis MV, Ferrero GB, Silengo MC, Russo S, Larizza L, Cerrato F.
    Endocr Dev; 2009; 14():1-9. PubMed ID: 19293570
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  • 3. Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour.
    Sparago A, Russo S, Cerrato F, Ferraiuolo S, Castorina P, Selicorni A, Schwienbacher C, Negrini M, Ferrero GB, Silengo MC, Anichini C, Larizza L, Riccio A.
    Hum Mol Genet; 2007 Feb 01; 16(3):254-64. PubMed ID: 17158821
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  • 4. Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome.
    Cooper WN, Luharia A, Evans GA, Raza H, Haire AC, Grundy R, Bowdin SC, Riccio A, Sebastio G, Bliek J, Schofield PN, Reik W, Macdonald F, Maher ER.
    Eur J Hum Genet; 2005 Sep 01; 13(9):1025-32. PubMed ID: 15999116
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  • 5. Paternally inherited submicroscopic duplication at 11p15.5 implicates insulin-like growth factor II in overgrowth and Wilms' tumorigenesis.
    Algar EM, St Heaps L, Darmanian A, Dagar V, Prawitt D, Peters GB, Collins F.
    Cancer Res; 2007 Mar 01; 67(5):2360-5. PubMed ID: 17325026
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  • 6. Role of genomic imprinting in Wilms' tumour and overgrowth disorders.
    Reeve AE.
    Med Pediatr Oncol; 1996 Nov 01; 27(5):470-5. PubMed ID: 8827076
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  • 7. 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 15; 102(11):4085-90. PubMed ID: 15743916
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  • 8. 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 15; 36(9):958-60. PubMed ID: 15314640
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  • 10. 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 15; 29(10):1255-60. PubMed ID: 18473334
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  • 11. An association between variants in the IGF2 gene and Beckwith-Wiedemann syndrome: interaction between genotype and epigenotype.
    Murrell A, Heeson S, Cooper WN, Douglas E, Apostolidou S, Moore GE, Maher ER, Reik W.
    Hum Mol Genet; 2004 Jan 15; 13(2):247-55. PubMed ID: 14645199
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  • 12. 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 01; 19(5):803-14. PubMed ID: 20007505
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  • 13. Loss of imprinting of IGF2 is linked to reduced expression and abnormal methylation of H19 in Wilms' tumour.
    Steenman MJ, Rainier S, Dobry CJ, Grundy P, Horon IL, Feinberg AP.
    Nat Genet; 1994 Jul 01; 7(3):433-9. PubMed ID: 7920665
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  • 14. Alterations of H19 imprinting and IGF2 replication timing are infrequent in Beckwith-Wiedemann syndrome.
    Squire JA, Li M, Perlikowski S, Fei YL, Bayani J, Zhang ZM, Weksberg R.
    Genomics; 2000 May 01; 65(3):234-42. PubMed ID: 10857747
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  • 15. Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome.
    Gaston V, Le Bouc Y, Soupre V, Burglen L, Donadieu J, Oro H, Audry G, Vazquez MP, Gicquel C.
    Eur J Hum Genet; 2001 Jun 01; 9(6):409-18. PubMed ID: 11436121
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  • 16. Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome.
    Weksberg R, Shen DR, Fei YL, Song QL, Squire J.
    Nat Genet; 1993 Oct 01; 5(2):143-50. PubMed ID: 8252039
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  • 17. Microdeletion and IGF2 loss of imprinting in a cascade causing Beckwith-Wiedemann syndrome with Wilms' tumor.
    Prawitt D, Enklaar T, Gärtner-Rupprecht B, Spangenberg C, Lausch E, Reutzel D, Fees S, Korzon M, Brozek I, Limon J, Housman DE, Pelletier J, Zabel B.
    Nat Genet; 2005 Aug 01; 37(8):785-6; author reply 786-7. PubMed ID: 16049499
    [No Abstract] [Full Text] [Related]

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  • 19. Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome.
    Abi Habib W, Azzi S, Brioude F, Steunou V, Thibaud N, Das Neves C, Le Jule M, Chantot-Bastaraud S, Keren B, Lyonnet S, Michot C, Rossi M, Pasquier L, Gicquel C, Rossignol S, Le Bouc Y, Netchine I.
    Hum Mol Genet; 2014 Nov 01; 23(21):5763-73. PubMed ID: 24916376
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  • 20. A novel large deletion of the ICR1 region including H19 and putative enhancer elements.
    Fryssira H, Amenta S, Kanber D, Sofocleous C, Lykopoulou E, Kanaka-Gantenbein C, Cerrato F, Lüdecke HJ, Bens S, Riccio A, Buiting K.
    BMC Med Genet; 2015 May 06; 16():30. PubMed ID: 25943194
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