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Journal Abstract Search

267 related items for PubMed ID: 10862080

  • 1.
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  • 2. CDKN1C expression in Beckwith-Wiedemann syndrome patients with allele imbalance.
    Algar EM, Deeble GJ, Smith PJ.
    J Med Genet; 1999 Jul; 36(7):524-31. PubMed ID: 10424812
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. An association between variants in the IGF2 gene and Beckwith-Wiedemann syndrome: interaction between genotype and epigenotype.
    Murrell A, Heeson S, Cooper WN, Douglas E, Apostolidou S, Moore GE, Maher ER, Reik W.
    Hum Mol Genet; 2004 Jan 15; 13(2):247-55. PubMed ID: 14645199
    [Abstract] [Full Text] [Related]

  • 5. Aberrant CpG methylation of the imprinting control region KvDMR1 detected in assisted reproductive technology-produced calves and pathogenesis of large offspring syndrome.
    Hori N, Nagai M, Hirayama M, Hirai T, Matsuda K, Hayashi M, Tanaka T, Ozawa T, Horike S.
    Anim Reprod Sci; 2010 Dec 15; 122(3-4):303-12. PubMed ID: 21035970
    [Abstract] [Full Text] [Related]

  • 6. Beckwith-Wiedemann syndrome: multiple molecular mechanisms.
    Enklaar T, Zabel BU, Prawitt D.
    Expert Rev Mol Med; 2006 Jul 17; 8(17):1-19. PubMed ID: 16842655
    [Abstract] [Full Text] [Related]

  • 7. 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 17; 36(7):518-23. PubMed ID: 10424811
    [Abstract] [Full Text] [Related]

  • 8. Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome.
    Weksberg R, Shen DR, Fei YL, Song QL, Squire J.
    Nat Genet; 1993 Oct 17; 5(2):143-50. PubMed ID: 8252039
    [Abstract] [Full Text] [Related]

  • 9. 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 17; 37(12):921-6. PubMed ID: 11106355
    [Abstract] [Full Text] [Related]

  • 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 17; 13(9):1025-32. PubMed ID: 15999116
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. Genomic imprinting of IGF2, p57(KIP2) and PEG1/MEST in a marsupial, the tammar wallaby.
    Suzuki S, Renfree MB, Pask AJ, Shaw G, Kobayashi S, Kohda T, Kaneko-Ishino T, Ishino F.
    Mech Dev; 2005 Feb 01; 122(2):213-22. PubMed ID: 15652708
    [Abstract] [Full Text] [Related]

  • 13. Molecular biology of Beckwith-Wiedemann syndrome.
    Weksberg R, Squire JA.
    Med Pediatr Oncol; 1996 Nov 01; 27(5):462-9. PubMed ID: 8827075
    [Abstract] [Full Text] [Related]

  • 14. Silencing of imprinted CDKN1C gene expression is associated with loss of CpG and histone H3 lysine 9 methylation at DMR-LIT1 in esophageal cancer.
    Soejima H, Nakagawachi T, Zhao W, Higashimoto K, Urano T, Matsukura S, Kitajima Y, Takeuchi M, Nakayama M, Oshimura M, Miyazaki K, Joh K, Mukai T.
    Oncogene; 2004 May 27; 23(25):4380-8. PubMed ID: 15007390
    [Abstract] [Full Text] [Related]

  • 15. Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.
    Soejima H, Higashimoto K.
    J Hum Genet; 2013 Jul 27; 58(7):402-9. PubMed ID: 23719190
    [Abstract] [Full Text] [Related]

  • 16. Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.
    Brioude F, Netchine I, Praz F, Le Jule M, Calmel C, Lacombe D, Edery P, Catala M, Odent S, Isidor B, Lyonnet S, Sigaudy S, Leheup B, Audebert-Bellanger S, Burglen L, Giuliano F, Alessandri JL, Cormier-Daire V, Laffargue F, Blesson S, Coupier I, Lespinasse J, Blanchet P, Boute O, Baumann C, Polak M, Doray B, Verloes A, Viot G, Le Bouc Y, Rossignol S.
    Hum Mutat; 2015 Sep 27; 36(9):894-902. PubMed ID: 26077438
    [Abstract] [Full Text] [Related]

  • 17. Searching for genomic variants in IGF2 and CDKN1C in Silver-Russell syndrome patients.
    Obermann C, Meyer E, Prager S, Tomiuk J, Wollmann HA, Eggermann T.
    Mol Genet Metab; 2004 Jul 27; 82(3):246-50. PubMed ID: 15234339
    [Abstract] [Full Text] [Related]

  • 18. Acute lymphocytic leukaemia in a child with Beckwith-Wiedemann syndrome harbouring a CDKN1C mutation.
    Abadie C, Bernard F, Netchine I, Sanlaville D, Roque A, Rossignol S, Coupier I.
    Eur J Med Genet; 2010 Jul 27; 53(6):400-3. PubMed ID: 20826236
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