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Journal Abstract Search

171 related items for PubMed ID: 20082469

  • 1. Methylation profiling in individuals with Russell-Silver syndrome.
    Peñaherrera MS, Weindler S, Van Allen MI, Yong SL, Metzger DL, McGillivray B, Boerkoel C, Langlois S, Robinson WP.
    Am J Med Genet A; 2010 Feb; 152A(2):347-55. PubMed ID: 20082469
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  • 3. Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome.
    Horike S, Ferreira JC, Meguro-Horike M, Choufani S, Smith AC, Shuman C, Meschino W, Chitayat D, Zackai E, Scherer SW, Weksberg R.
    Am J Med Genet A; 2009 Nov; 149A(11):2415-23. PubMed ID: 19876907
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  • 4. Complex tissue-specific epigenotypes in Russell-Silver Syndrome associated with 11p15 ICR1 hypomethylation.
    Azzi S, Blaise A, Steunou V, Harbison MD, Salem J, Brioude F, Rossignol S, Habib WA, Thibaud N, Neves CD, Jule ML, Brachet C, Heinrichs C, Bouc YL, Netchine I.
    Hum Mutat; 2014 Oct; 35(10):1211-20. PubMed ID: 25044976
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  • 5. 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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  • 6. Epigenetic anomalies in childhood growth disorders.
    Netchine I, Rossignol S, Azzi S, Le Bouc Y.
    Nestle Nutr Inst Workshop Ser; 2013 Jan; 71():65-73. PubMed ID: 23502140
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  • 7. 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; 81(4):366-77. PubMed ID: 22248018
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  • 8. Profound alterations of the chromatin architecture at chromosome 11p15.5 in cells from Beckwith-Wiedemann and Silver-Russell syndromes patients.
    Rovina D, La Vecchia M, Cortesi A, Fontana L, Pesant M, Maitz S, Tabano S, Bodega B, Miozzo M, Sirchia SM.
    Sci Rep; 2020 May 19; 10(1):8275. PubMed ID: 32427849
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  • 10. Genome-wide methylation analysis in Silver-Russell syndrome patients.
    Prickett AR, Ishida M, Böhm S, Frost JM, Puszyk W, Abu-Amero S, Stanier P, Schulz R, Moore GE, Oakey RJ.
    Hum Genet; 2015 Mar 19; 134(3):317-332. PubMed ID: 25563730
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  • 11. Epigenetic modulation of the IGF2/H19 imprinted domain in human embryonic and extra-embryonic compartments and its possible role in fetal growth restriction.
    Tabano S, Colapietro P, Cetin I, Grati FR, Zanutto S, Mandò C, Antonazzo P, Pileri P, Rossella F, Larizza L, Sirchia SM, Miozzo M.
    Epigenetics; 2010 May 16; 5(4):313-24. PubMed ID: 20418667
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  • 13. Expression of KCNQ1OT1, CDKN1C, H19, and PLAGL1 and the methylation patterns at the KvDMR1 and H19/IGF2 imprinting control regions is conserved between human and bovine.
    Robbins KM, Chen Z, Wells KD, Rivera RM.
    J Biomed Sci; 2012 Nov 15; 19(1):95. PubMed ID: 23153226
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  • 14. 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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  • 16. 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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  • 17. 11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations.
    Netchine I, Rossignol S, Dufourg MN, Azzi S, Rousseau A, Perin L, Houang M, Steunou V, Esteva B, Thibaud N, Demay MC, Danton F, Petriczko E, Bertrand AM, Heinrichs C, Carel JC, Loeuille GA, Pinto G, Jacquemont ML, Gicquel C, Cabrol S, Le Bouc Y.
    J Clin Endocrinol Metab; 2007 Aug 01; 92(8):3148-54. PubMed ID: 17504900
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  • 18. 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 01; 173(1):72-78. PubMed ID: 27612309
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