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Journal Abstract Search

628 related items for PubMed ID: 9152830

  • 1. 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; 34(5):353-9. PubMed ID: 9152830
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  • 2. Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.
    Engel JR, Smallwood A, Harper A, Higgins MJ, Oshimura M, Reik W, Schofield PN, Maher ER.
    J Med Genet; 2000 Dec; 37(12):921-6. PubMed ID: 11106355
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  • 3. 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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  • 6. Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation.
    Lam WW, Hatada I, Ohishi S, Mukai T, Joyce JA, Cole TR, Donnai D, Reik W, Schofield PN, Maher ER.
    J Med Genet; 1999 Jul; 36(7):518-23. PubMed ID: 10424811
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  • 10. Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome.
    Cooper WN, Luharia A, Evans GA, Raza H, Haire AC, Grundy R, Bowdin SC, Riccio A, Sebastio G, Bliek J, Schofield PN, Reik W, Macdonald F, Maher ER.
    Eur J Hum Genet; 2005 Sep; 13(9):1025-32. PubMed ID: 15999116
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  • 12. High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.
    Baskin B, Choufani S, Chen YA, Shuman C, Parkinson N, Lemyre E, Micheil Innes A, Stavropoulos DJ, Ray PN, Weksberg R.
    Hum Genet; 2014 Mar; 133(3):321-30. PubMed ID: 24154661
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  • 14. Imprinting of IGF2 and H19: lack of reciprocity in sporadic Beckwith-Wiedemann syndrome.
    Joyce JA, Lam WK, Catchpoole DJ, Jenks P, Reik W, Maher ER, Schofield PN.
    Hum Mol Genet; 1997 Sep; 6(9):1543-8. PubMed ID: 9285792
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  • 16. Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS.
    Bliek J, Maas SM, Ruijter JM, Hennekam RC, Alders M, Westerveld A, Mannens MM.
    Hum Mol Genet; 2001 Mar 01; 10(5):467-76. PubMed ID: 11181570
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  • 18. Rapid detection of methylation change at H19 in human imprinting disorders using methylation-sensitive high-resolution melting.
    Wojdacz TK, Dobrovic A, Algar EM.
    Hum Mutat; 2008 Oct 01; 29(10):1255-60. PubMed ID: 18473334
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  • 19. Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects.
    DeBaun MR, Niemitz EL, McNeil DE, Brandenburg SA, Lee MP, Feinberg AP.
    Am J Hum Genet; 2002 Mar 01; 70(3):604-11. PubMed ID: 11813134
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