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Journal Abstract Search

507 related items for PubMed ID: 29484033

  • 1. Is ZFP57 binding to H19/IGF2:IG-DMR affected in Silver-Russell syndrome?
    Sparago A, Cerrato F, Riccio A.
    Clin Epigenetics; 2018; 10():23. PubMed ID: 29484033
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  • 2. 11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome.
    Abi Habib W, Brioude F, Azzi S, Salem J, Das Neves C, Personnier C, Chantot-Bastaraud S, Keren B, Le Bouc Y, Harbison MD, Netchine I.
    Hum Mutat; 2017 Jan; 38(1):105-111. PubMed ID: 27701793
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  • 3. 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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  • 4. Humanized H19/Igf2 locus reveals diverged imprinting mechanism between mouse and human and reflects Silver-Russell syndrome phenotypes.
    Hur SK, Freschi A, Ideraabdullah F, Thorvaldsen JL, Luense LJ, Weller AH, Berger SL, Cerrato F, Riccio A, Bartolomei MS.
    Proc Natl Acad Sci U S A; 2016 Sep 27; 113(39):10938-43. PubMed ID: 27621468
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  • 5. 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 27; 173(1):72-78. PubMed ID: 27612309
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  • 6. Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
    Nativio R, Sparago A, Ito Y, Weksberg R, Riccio A, Murrell A.
    Hum Mol Genet; 2011 Apr 01; 20(7):1363-74. PubMed ID: 21282187
    [Abstract] [Full Text] [Related]

  • 7. Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome.
    Azzi S, Steunou V, Tost J, Rossignol S, Thibaud N, Das Neves C, Le Jule M, Habib WA, Blaise A, Koudou Y, Busato F, Le Bouc Y, Netchine I.
    J Med Genet; 2015 Jan 01; 52(1):53-60. PubMed ID: 25395389
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  • 13. DNA methylation defects in spermatozoa of male partners from couples experiencing recurrent pregnancy loss.
    Khambata K, Raut S, Deshpande S, Mohan S, Sonawane S, Gaonkar R, Ansari Z, Datar M, Bansal V, Patil A, Warke H, Balasinor NH.
    Hum Reprod; 2021 Jan 01; 36(1):48-60. PubMed ID: 33319906
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  • 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
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  • 15. IGF2 Mutations.
    Masunaga Y, Inoue T, Yamoto K, Fujisawa Y, Sato Y, Kawashima-Sonoyama Y, Morisada N, Iijima K, Ohata Y, Namba N, Suzumura H, Kuribayashi R, Yamaguchi Y, Yoshihashi H, Fukami M, Saitsu H, Kagami M, Ogata T.
    J Clin Endocrinol Metab; 2020 Jan 01; 105(1):. PubMed ID: 31544945
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  • 16. Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome.
    Pignata L, Sparago A, Palumbo O, Andreucci E, Lapi E, Tenconi R, Carella M, Riccio A, Cerrato F.
    Genes (Basel); 2021 Apr 16; 12(4):. PubMed ID: 33923683
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  • 17. Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci.
    Azzi S, Rossignol S, Steunou V, Sas T, Thibaud N, Danton F, Le Jule M, Heinrichs C, Cabrol S, Gicquel C, Le Bouc Y, Netchine I.
    Hum Mol Genet; 2009 Dec 15; 18(24):4724-33. PubMed ID: 19755383
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  • 18. Hypomethylation of a centromeric block of ICR1 is sufficient to cause Silver-Russell syndrome.
    Higashimoto K, Watanabe H, Tanoue Y, Tonoki H, Tokutomi T, Hara S, Yatsuki H, Soejima H.
    J Med Genet; 2021 Jun 15; 58(6):422-425. PubMed ID: 32447322
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