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Journal Abstract Search

233 related items for PubMed ID: 18245780

  • 41.
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  • 43. 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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  • 44. Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting.
    Lee MP, DeBaun MR, Mitsuya K, Galonek HL, Brandenburg S, Oshimura M, Feinberg AP.
    Proc Natl Acad Sci U S A; 1999 Apr 27; 96(9):5203-8. PubMed ID: 10220444
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  • 45. Oct motif variants in Beckwith-Wiedemann syndrome patients disrupt maintenance of the hypomethylated state of the H19/IGF2 imprinting control region.
    Kubo S, Murata C, Okamura H, Sakasegawa T, Sakurai C, Hatsuzawa K, Hori N.
    FEBS Lett; 2020 May 27; 594(10):1517-1531. PubMed ID: 32012256
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  • 46. Mutation of a single CTCF target site within the H19 imprinting control region leads to loss of Igf2 imprinting and complex patterns of de novo methylation upon maternal inheritance.
    Pant V, Kurukuti S, Pugacheva E, Shamsuddin S, Mariano P, Renkawitz R, Klenova E, Lobanenkov V, Ohlsson R.
    Mol Cell Biol; 2004 Apr 27; 24(8):3497-504. PubMed ID: 15060168
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  • 47. 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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  • 48.
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  • 49. Molecular biology of Beckwith-Wiedemann syndrome.
    Weksberg R, Squire JA.
    Med Pediatr Oncol; 1996 Nov 01; 27(5):462-9. PubMed ID: 8827075
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  • 52. Allelic methylation of H19 and IGF2 in the Beckwith-Wiedemann syndrome.
    Reik W, Brown KW, Slatter RE, Sartori P, Elliott M, Maher ER.
    Hum Mol Genet; 1994 Aug 01; 3(8):1297-301. PubMed ID: 7987305
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  • 53. Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15.5 is associated with growth retardation but does not affect imprinting.
    Eggermann T, Kraft F, Lausberg E, Ergezinger K, Kunstmann E.
    J Med Genet; 2021 Mar 01; 58(3):173-176. PubMed ID: 32447323
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  • 56. Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance.
    Fontana L, Tabano S, Maitz S, Colapietro P, Garzia E, Gerli AG, Sirchia SM, Miozzo M.
    Int J Mol Sci; 2021 Mar 26; 22(7):. PubMed ID: 33810554
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  • 57. Epigenetic changes encompassing the IGF2/H19 locus associated with relaxation of IGF2 imprinting and silencing of H19 in Wilms tumor.
    Taniguchi T, Sullivan MJ, Ogawa O, Reeve AE.
    Proc Natl Acad Sci U S A; 1995 Mar 14; 92(6):2159-63. PubMed ID: 7534414
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  • 59. Insulin-like growth factor 2 cannot be linked to a familial form of Beckwith-Wiedemann syndrome.
    Nyström A, Hedborg F, Ohlsson R.
    Eur J Pediatr; 1994 Aug 14; 153(8):574-80. PubMed ID: 7957404
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  • 60. 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 14; 38(1):105-111. PubMed ID: 27701793
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