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Journal Abstract Search

190 related items for PubMed ID: 8612230

  • 1. Somatic overgrowth associated with overexpression of insulin-like growth factor II.
    Morison IM, Becroft DM, Taniguchi T, Woods CG, Reeve AE.
    Nat Med; 1996 Mar; 2(3):311-6. PubMed ID: 8612230
    [Abstract] [Full Text] [Related]

  • 2. Role of genomic imprinting in Wilms' tumour and overgrowth disorders.
    Reeve AE.
    Med Pediatr Oncol; 1996 Nov; 27(5):470-5. PubMed ID: 8827076
    [Abstract] [Full Text] [Related]

  • 3. Relaxation of insulin-like growth factor 2 imprinting and discordant methylation at KvDMR1 in two first cousins affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber syndromes.
    Sperandeo MP, Ungaro P, Vernucci M, Pedone PV, Cerrato F, Perone L, Casola S, Cubellis MV, Bruni CB, Andria G, Sebastio G, Riccio A.
    Am J Hum Genet; 2000 Mar; 66(3):841-7. PubMed ID: 10712200
    [Abstract] [Full Text] [Related]

  • 4. Imprinting of IGF2 and H19: lack of reciprocity in sporadic Beckwith-Wiedemann syndrome.
    Joyce JA, Lam WK, Catchpoole DJ, Jenks P, Reik W, Maher ER, Schofield PN.
    Hum Mol Genet; 1997 Sep; 6(9):1543-8. PubMed ID: 9285792
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by altered imprinting pattern in the IGF2-H19 domain.
    Reik W, Brown KW, Schneid H, Le Bouc Y, Bickmore W, Maher ER.
    Hum Mol Genet; 1995 Dec 01; 4(12):2379-85. PubMed ID: 8634713
    [Abstract] [Full Text] [Related]

  • 8. Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour.
    Cerrato F, Sparago A, Verde G, De Crescenzo A, Citro V, Cubellis MV, Rinaldi MM, Boccuto L, Neri G, Magnani C, D'Angelo P, Collini P, Perotti D, Sebastio G, Maher ER, Riccio A.
    Hum Mol Genet; 2008 May 15; 17(10):1427-35. PubMed ID: 18245780
    [Abstract] [Full Text] [Related]

  • 9. Beck-Wiedemann syndrome and Wilms' tumour.
    Ward A.
    Mol Hum Reprod; 1997 Feb 15; 3(2):157-68. PubMed ID: 9239720
    [Abstract] [Full Text] [Related]

  • 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 15; 61(2):295-303. PubMed ID: 9311733
    [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 01; 19(5):803-14. PubMed ID: 20007505
    [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 01; 5(12):2027-32. PubMed ID: 8968759
    [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 15; 10(26):2989-3000. PubMed ID: 11751681
    [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 15; 29(10):1255-60. PubMed ID: 18473334
    [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 15; 36(9):958-60. PubMed ID: 15314640
    [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 15; 173(1):72-78. PubMed ID: 27612309
    [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 01; 13(23):3115-24. PubMed ID: 10601037
    [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 01; 34(5):353-9. PubMed ID: 9152830
    [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 15; 102(11):4085-90. PubMed ID: 15743916
    [Abstract] [Full Text] [Related]

  • 20. Imprinting in clusters: lessons from Beckwith-Wiedemann syndrome.
    Reik W, Maher ER.
    Trends Genet; 1997 Aug 15; 13(8):330-4. PubMed ID: 9260520
    [Abstract] [Full Text] [Related]

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