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Journal Abstract Search


156 related items for PubMed ID: 31544945

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

  • 2. Is ZFP57 binding to H19/IGF2:IG-DMR affected in Silver-Russell syndrome?
    Sparago A, Cerrato F, Riccio A.
    Clin Epigenetics; 2018 Jan 01; 10():23. PubMed ID: 29484033
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  • 3. 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 01; 38(1):105-111. PubMed ID: 27701793
    [Abstract] [Full Text] [Related]

  • 4. De novo IGF2 mutation on the paternal allele in a patient with Silver-Russell syndrome and ectrodactyly.
    Yamoto K, Saitsu H, Nakagawa N, Nakajima H, Hasegawa T, Fujisawa Y, Kagami M, Fukami M, Ogata T.
    Hum Mutat; 2017 Aug 01; 38(8):953-958. PubMed ID: 28489339
    [Abstract] [Full Text] [Related]

  • 5. IGF2/H19 hypomethylation in a patient with very low birthweight, preocious pubarche and insulin resistance.
    Murphy R, Ibáñez L, Hattersley A, Tost J.
    BMC Med Genet; 2012 May 30; 13():42. PubMed ID: 22646060
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  • 6. Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients.
    Inoue T, Nakamura A, Iwahashi-Odano M, Tanase-Nakao K, Matsubara K, Nishioka J, Maruo Y, Hasegawa Y, Suzumura H, Sato S, Kobayashi Y, Murakami N, Nakabayashi K, Yamazawa K, Fuke T, Narumi S, Oka A, Ogata T, Fukami M, Kagami M.
    Clin Epigenetics; 2020 Jun 16; 12(1):86. PubMed ID: 32546215
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  • 7. 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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  • 9. Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes.
    Bartholdi D, Krajewska-Walasek M, Ounap K, Gaspar H, Chrzanowska KH, Ilyana H, Kayserili H, Lurie IW, Schinzel A, Baumer A.
    J Med Genet; 2009 Mar 27; 46(3):192-7. PubMed ID: 19066168
    [Abstract] [Full Text] [Related]

  • 10. IGF-I sensitivity in Silver-Russell syndrome with IGF2/H19 hypomethylation.
    Iliev DI, Kannenberg K, Weber K, Binder G.
    Growth Horm IGF Res; 2014 Oct 27; 24(5):187-91. PubMed ID: 25066218
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  • 12. Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell Syndrome-compatible phenotype.
    Kagami M, Mizuno S, Matsubara K, Nakabayashi K, Sano S, Fuke T, Fukami M, Ogata T.
    Eur J Hum Genet; 2015 Aug 27; 23(8):1062-7. PubMed ID: 25351781
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  • 13. Silver-Russell syndrome due to paternal H19/IGF2 hypomethylation in a twin girl born after in vitro fertilization.
    Cocchi G, Marsico C, Cosentino A, Spadoni C, Rocca A, De Crescenzo A, Riccio A.
    Am J Med Genet A; 2013 Oct 27; 161A(10):2652-5. PubMed ID: 24038823
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  • 15. Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood.
    Lokulo-Sodipe O, Ballard L, Child J, Inskip HM, Byrne CD, Ishida M, Moore GE, Wakeling EL, Fenwick A, Mackay DJG, Davies JH, Temple IK.
    J Med Genet; 2020 Oct 27; 57(10):683-691. PubMed ID: 32054688
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  • 19. Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5.
    Eggermann T, Kraft F, Kloth K, Klopocki E, Hüning I, Hempel M, Kunstmann E.
    Clin Genet; 2020 Oct 27; 98(4):418-419. PubMed ID: 33294970
    [Abstract] [Full Text] [Related]

  • 20. Increased incidence of aberrant DNA methylation within diverse imprinted gene loci outside of IGF2/H19 in Silver-Russell syndrome.
    Kannenberg K, Urban C, Binder G.
    Clin Genet; 2012 Apr 27; 81(4):366-77. PubMed ID: 22248018
    [Abstract] [Full Text] [Related]


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