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Journal Abstract Search

233 related items for PubMed ID: 18245780

  • 1. 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]

  • 2. 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 May 15; 14():1-9. PubMed ID: 19293570
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 4. The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites.
    Beygo J, Citro V, Sparago A, De Crescenzo A, Cerrato F, Heitmann M, Rademacher K, Guala A, Enklaar T, Anichini C, Cirillo Silengo M, Graf N, Prawitt D, Cubellis MV, Horsthemke B, Buiting K, Riccio A.
    Hum Mol Genet; 2013 Feb 01; 22(3):544-57. PubMed ID: 23118352
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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]

  • 7. 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
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  • 10. 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 15; 5(12):2027-32. PubMed ID: 8968759
    [Abstract] [Full Text] [Related]

  • 11. 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 15; 13(9):1025-32. PubMed ID: 15999116
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. 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 15; 86(6):539-44. PubMed ID: 24299031
    [Abstract] [Full Text] [Related]

  • 14. Tissue-specific insulator function at H19/Igf2 revealed by deletions at the imprinting control region.
    Ideraabdullah FY, Thorvaldsen JL, Myers JA, Bartolomei MS.
    Hum Mol Genet; 2014 Dec 01; 23(23):6246-59. PubMed ID: 24990148
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. Distinct methylation changes at the IGF2-H19 locus in congenital growth disorders and cancer.
    Murrell A, Ito Y, Verde G, Huddleston J, Woodfine K, Silengo MC, Spreafico F, Perotti D, De Crescenzo A, Sparago A, Cerrato F, Riccio A.
    PLoS One; 2008 Mar 26; 3(3):e1849. PubMed ID: 18365005
    [Abstract] [Full Text] [Related]

  • 20. 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 26; 173(1):72-78. PubMed ID: 27612309
    [Abstract] [Full Text] [Related]

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