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284 related items for PubMed ID: 8968759

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 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 01; 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 01; 6(9):1543-8. PubMed ID: 9285792
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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]

  • 7. 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]

  • 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
    [Abstract] [Full Text] [Related]

  • 9. 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 15; 34(5):353-9. PubMed ID: 9152830
    [Abstract] [Full Text] [Related]

  • 10. Role of genomic imprinting in Wilms' tumour and overgrowth disorders.
    Reeve AE.
    Med Pediatr Oncol; 1996 Nov 15; 27(5):470-5. PubMed ID: 8827076
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations.
    Li M, Squire J, Shuman C, Fei YL, Atkin J, Pauli R, Smith A, Nishikawa J, Chitayat D, Weksberg R.
    Genomics; 2001 Jun 15; 74(3):370-6. PubMed ID: 11414765
    [Abstract] [Full Text] [Related]

  • 13. Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.
    Poole RL, Leith DJ, Docherty LE, Shmela ME, Gicquel C, Splitt M, Temple IK, Mackay DJ.
    Eur J Hum Genet; 2012 Feb 15; 20(2):240-3. PubMed ID: 21863054
    [Abstract] [Full Text] [Related]

  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15. A novel de novo point mutation of the OCT-binding site in the IGF2/H19-imprinting control region in a Beckwith-Wiedemann syndrome patient.
    Higashimoto K, Jozaki K, Kosho T, Matsubara K, Fuke T, Yamada D, Yatsuki H, Maeda T, Ohtsuka Y, Nishioka K, Joh K, Koseki H, Ogata T, Soejima H.
    Clin Genet; 2014 Dec 01; 86(6):539-44. PubMed ID: 24299031
    [Abstract] [Full Text] [Related]

  • 16. Allelic methylation of H19 and IGF2 in the Beckwith-Wiedemann syndrome.
    Reik W, Brown KW, Slatter RE, Sartori P, Elliott M, Maher ER.
    Hum Mol Genet; 1994 Aug 01; 3(8):1297-301. PubMed ID: 7987305
    [Abstract] [Full Text] [Related]

  • 17. High incidence of loss of heterozygosity and abnormal imprinting of H19 and IGF2 genes in invasive cervical carcinomas. Uncoupling of H19 and IGF2 expression and biallelic hypomethylation of H19.
    Douc-Rasy S, Barrois M, Fogel S, Ahomadegbe JC, Stéhelin D, Coll J, Riou G.
    Oncogene; 1996 Jan 18; 12(2):423-30. PubMed ID: 8570220
    [Abstract] [Full Text] [Related]

  • 18. Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.
    Engel JR, Smallwood A, Harper A, Higgins MJ, Oshimura M, Reik W, Schofield PN, Maher ER.
    J Med Genet; 2000 Dec 18; 37(12):921-6. PubMed ID: 11106355
    [Abstract] [Full Text] [Related]

  • 19. Imprinting in clusters: lessons from Beckwith-Wiedemann syndrome.
    Reik W, Maher ER.
    Trends Genet; 1997 Aug 18; 13(8):330-4. PubMed ID: 9260520
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

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