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Journal Abstract Search

233 related items for PubMed ID: 18245780

  • 21. The number of the CTCF binding sites of the H19/IGF2:IG-DMR correlates with DNA methylation and expression imprinting in a humanized mouse model.
    Freschi A, Del Prete R, Pignata L, Cecere F, Manfrevola F, Mattia M, Cobellis G, Sparago A, Bartolomei MS, Riccio A, Cerrato F.
    Hum Mol Genet; 2021 Jul 28; 30(16):1509-1520. PubMed ID: 34132339
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  • 22. 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 28; 37(12):921-6. PubMed ID: 11106355
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  • 24. Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1.
    Weksberg R, Nishikawa J, Caluseriu O, Fei YL, Shuman C, Wei C, Steele L, Cameron J, Smith A, Ambus I, Li M, Ray PN, Sadowski P, Squire J.
    Hum Mol Genet; 2001 Dec 15; 10(26):2989-3000. PubMed ID: 11751681
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  • 26. Novel deletion in 11p15.5 imprinting center region 1 in a patient with Beckwith-Wiedemann syndrome provides insight into distal enhancer regulation and tumorigenesis.
    Bachmann N, Crazzolara R, Bohne F, Kotzot D, Maurer K, Enklaar T, Prawitt D, Bergmann C.
    Pediatr Blood Cancer; 2017 Mar 15; 64(3):. PubMed ID: 27650505
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  • 27. 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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  • 28. Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups.
    Maas SM, Vansenne F, Kadouch DJ, Ibrahim A, Bliek J, Hopman S, Mannens MM, Merks JH, Maher ER, Hennekam RC.
    Am J Med Genet A; 2016 Sep 15; 170(9):2248-60. PubMed ID: 27419809
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  • 30. Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by altered imprinting pattern in the IGF2-H19 domain.
    Reik W, Brown KW, Schneid H, Le Bouc Y, Bickmore W, Maher ER.
    Hum Mol Genet; 1995 Dec 15; 4(12):2379-85. PubMed ID: 8634713
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  • 32. 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 15; 133(3):321-30. PubMed ID: 24154661
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  • 33. Is ZFP57 binding to H19/IGF2:IG-DMR affected in Silver-Russell syndrome?
    Sparago A, Cerrato F, Riccio A.
    Clin Epigenetics; 2018 Mar 15; 10():23. PubMed ID: 29484033
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  • 39. Coding mutations in p57KIP2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms tumors.
    O'Keefe D, Dao D, Zhao L, Sanderson R, Warburton D, Weiss L, Anyane-Yeboa K, Tycko B.
    Am J Hum Genet; 1997 Aug 15; 61(2):295-303. PubMed ID: 9311733
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  • 40. Somatic overgrowth associated with overexpression of insulin-like growth factor II.
    Morison IM, Becroft DM, Taniguchi T, Woods CG, Reeve AE.
    Nat Med; 1996 Mar 15; 2(3):311-6. PubMed ID: 8612230
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