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Journal Abstract Search

219 related items for PubMed ID: 17158821

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  • 3. 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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  • 6. 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; 9(6):409-18. PubMed ID: 11436121
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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. 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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  • 9. 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 01; 36(9):958-60. PubMed ID: 15314640
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  • 11. The number of the CTCF binding sites of the H19/IGF2:IG-DMR correlates with DNA methylation and expression imprinting in a humanized mouse model.
    Freschi A, Del Prete R, Pignata L, Cecere F, Manfrevola F, Mattia M, Cobellis G, Sparago A, Bartolomei MS, Riccio A, Cerrato F.
    Hum Mol Genet; 2021 Jul 28; 30(16):1509-1520. PubMed ID: 34132339
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  • 12. 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 28; 173(1):72-78. PubMed ID: 27612309
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  • 13. 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 28; 34(5):353-9. PubMed ID: 9152830
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  • 18. 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 28; 5(12):2027-32. PubMed ID: 8968759
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  • 19. 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
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