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Journal Abstract Search

588 related items for PubMed ID: 20007505

  • 1. 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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  • 2. 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 01; 86(6):539-44. PubMed ID: 24299031
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  • 3. 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 01; 20(2):240-3. PubMed ID: 21863054
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  • 4. New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.
    Demars J, Rossignol S, Netchine I, Lee KS, Shmela M, Faivre L, Weill J, Odent S, Azzi S, Callier P, Lucas J, Dubourg C, Andrieux J, Le Bouc Y, El-Osta A, Gicquel C.
    Hum Mutat; 2011 Oct 01; 32(10):1171-82. PubMed ID: 21780245
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  • 5. 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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  • 6. (Epi)mutations in 11p15 significantly contribute to Silver-Russell syndrome: but are they generally involved in growth retardation?
    Schönherr N, Meyer E, Eggermann K, Ranke MB, Wollmann HA, Eggermann T.
    Eur J Med Genet; 2006 Nov 01; 49(5):414-8. PubMed ID: 16603426
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  • 9. 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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  • 10. Alterations of H19 imprinting and IGF2 replication timing are infrequent in Beckwith-Wiedemann syndrome.
    Squire JA, Li M, Perlikowski S, Fei YL, Bayani J, Zhang ZM, Weksberg R.
    Genomics; 2000 May 01; 65(3):234-42. PubMed ID: 10857747
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  • 13. Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations.
    Li M, Squire J, Shuman C, Fei YL, Atkin J, Pauli R, Smith A, Nishikawa J, Chitayat D, Weksberg R.
    Genomics; 2001 Jun 15; 74(3):370-6. PubMed ID: 11414765
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  • 14. Epigenetic anomalies in childhood growth disorders.
    Netchine I, Rossignol S, Azzi S, Le Bouc Y.
    Nestle Nutr Inst Workshop Ser; 2013 Jun 15; 71():65-73. PubMed ID: 23502140
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  • 15. IVF results in de novo DNA methylation and histone methylation at an Igf2-H19 imprinting epigenetic switch.
    Li T, Vu TH, Ulaner GA, Littman E, Ling JQ, Chen HL, Hu JF, Behr B, Giudice L, Hoffman AR.
    Mol Hum Reprod; 2005 Sep 15; 11(9):631-40. PubMed ID: 16219628
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  • 17. 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
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  • 18. The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome.
    Schönherr N, Meyer E, Roos A, Schmidt A, Wollmann HA, Eggermann T.
    J Med Genet; 2007 Jan 15; 44(1):59-63. PubMed ID: 16963484
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  • 20. [Epigenetics, genomic imprinting and developmental disorders].
    Le Bouc Y, Rossignol S, Azzi S, Brioude F, Cabrol S, Gicquel C, Netchine I.
    Bull Acad Natl Med; 2010 Feb 15; 194(2):287-97; discussion 297-300. PubMed ID: 21166119
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