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MeSH Review

Beckwith-Wiedemann Syndrome

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Disease relevance of Beckwith-Wiedemann Syndrome


Psychiatry related information on Beckwith-Wiedemann Syndrome


High impact information on Beckwith-Wiedemann Syndrome


Chemical compound and disease context of Beckwith-Wiedemann Syndrome


Biological context of Beckwith-Wiedemann Syndrome


Anatomical context of Beckwith-Wiedemann Syndrome


Gene context of Beckwith-Wiedemann Syndrome


Analytical, diagnostic and therapeutic context of Beckwith-Wiedemann Syndrome


  1. Disruption of an imprinted gene cluster by a targeted chromosomal translocation in mice. Cleary, M.A., van Raamsdonk, C.D., Levorse, J., Zheng, B., Bradley, A., Tilghman, S.M. Nat. Genet. (2001) [Pubmed]
  2. Transactivation of Igf2 in a mouse model of Beckwith-Wiedemann syndrome. Sun, F.L., Dean, W.L., Kelsey, G., Allen, N.D., Reik, W. Nature (1997) [Pubmed]
  3. Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor. Prawitt, D., Enklaar, T., Gärtner-Rupprecht, B., Spangenberg, C., Oswald, M., Lausch, E., Schmidtke, P., Reutzel, D., Fees, S., Lucito, R., Korzon, M., Brozek, I., Limon, J., Housman, D.E., Pelletier, J., Zabel, B. Proc. Natl. Acad. Sci. U.S.A. (2005) [Pubmed]
  4. Familial Wiedemann-Beckwith syndrome and a second Wilms tumor locus both map to 11p15.5. Koufos, A., Grundy, P., Morgan, K., Aleck, K.A., Hadro, T., Lampkin, B.C., Kalbakji, A., Cavenee, W.K. Am. J. Hum. Genet. (1989) [Pubmed]
  5. Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype. Bliek, J., Terhal, P., van den Bogaard, M.J., Maas, S., Hamel, B., Salieb-Beugelaar, G., Simon, M., Letteboer, T., van der Smagt, J., Kroes, H., Mannens, M. Am. J. Hum. Genet. (2006) [Pubmed]
  6. The cell type-specific IGF2 expression during early human development correlates to the pattern of overgrowth and neoplasia in the Beckwith-Wiedemann syndrome. Hedborg, F., Holmgren, L., Sandstedt, B., Ohlsson, R. Am. J. Pathol. (1994) [Pubmed]
  7. Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome. Sparago, A., Cerrato, F., Vernucci, M., Ferrero, G.B., Silengo, M.C., Riccio, A. Nat. Genet. (2004) [Pubmed]
  8. An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome. Hatada, I., Ohashi, H., Fukushima, Y., Kaneko, Y., Inoue, M., Komoto, Y., Okada, A., Ohishi, S., Nabetani, A., Morisaki, H., Nakayama, M., Niikawa, N., Mukai, T. Nat. Genet. (1996) [Pubmed]
  9. Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome. Weksberg, R., Shen, D.R., Fei, Y.L., Song, Q.L., Squire, J. Nat. Genet. (1993) [Pubmed]
  10. IGF2 is parentally imprinted during human embryogenesis and in the Beckwith-Wiedemann syndrome. Ohlsson, R., Nyström, A., Pfeifer-Ohlsson, S., Töhönen, V., Hedborg, F., Schofield, P., Flam, F., Ekström, T.J. Nat. Genet. (1993) [Pubmed]
  11. Loss of CpG methylation is strongly correlated with loss of histone H3 lysine 9 methylation at DMR-LIT1 in patients with Beckwith-Wiedemann syndrome. Higashimoto, K., Urano, T., Sugiura, K., Yatsuki, H., Joh, K., Zhao, W., Iwakawa, M., Ohashi, H., Oshimura, M., Niikawa, N., Mukai, T., Soejima, H. Am. J. Hum. Genet. (2003) [Pubmed]
  12. The effects of a somatostatin analogue on the metabolism of an infant with Beckwith-Wiedemann syndrome and hyperinsulinaemic hypoglycaemia. Gerver, W.J., Menheere, P.P., Schaap, C., Degraeuwe, P. Eur. J. Pediatr. (1991) [Pubmed]
  13. Feasibility of partial nephrectomy for Wilms' tumor in children with Beckwith-Wiedemann syndrome who have been screened with abdominal ultrasonography. McNeil, D.E., Langer, J.C., Choyke, P., DeBaun, M.R. J. Pediatr. Surg. (2002) [Pubmed]
  14. Increased IGF-II protein affects p57kip2 expression in vivo and in vitro: implications for Beckwith-Wiedemann syndrome. Grandjean, V., Smith, J., Schofield, P.N., Ferguson-Smith, A.C. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
  15. An association between variants in the IGF2 gene and Beckwith-Wiedemann syndrome: interaction between genotype and epigenotype. Murrell, A., Heeson, S., Cooper, W.N., Douglas, E., Apostolidou, S., Moore, G.E., Maher, E.R., Reik, W. Hum. Mol. Genet. (2004) [Pubmed]
  16. p57KIP2 targeted disruption and Beckwith-Wiedemann syndrome: is the inhibitor just a contributor? Swanger, W.J., Roberts, J.M. Bioessays (1997) [Pubmed]
  17. Cyclin-dependent kinase inhibitor p57KIP2 in soft tissue sarcomas and Wilms'tumors. Orlow, I., Iavarone, A., Crider-Miller, S.J., Bonilla, F., Latres, E., Lee, M.H., Gerald, W.L., Massagué, J., Weissman, B.E., Cordón-Cardó, C. Cancer Res. (1996) [Pubmed]
  18. 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, M.P., Gicquel, C. Eur. J. Hum. Genet. (2001) [Pubmed]
  19. Renal findings on radiological followup of patients with Beckwith-Wiedemann syndrome. Borer, J.G., Kaefer, M., Barnewolt, C.E., Elias, E.R., Hobbs, N., Retik, A.B., Peters, C.A. J. Urol. (1999) [Pubmed]
  20. Miscellaneous genodermatoses: Beckwith-Wiedemann syndrome, Birt-Hogg-Dube syndrome, familial atypical multiple mole melanoma syndrome, hereditary tylosis, incontinentia pigmenti, and supernumerary nipples. Cohen, P.R., Kurzrock, R. Dermatologic clinics. (1995) [Pubmed]
  21. Focal giant-cell cardiomyopathy. Drut, R.M., Drut, R. Pediatric pathology / affiliated with the International Paediatric Pathology Association. (1987) [Pubmed]
  22. p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene. Matsuoka, S., Edwards, M.C., Bai, C., Parker, S., Zhang, P., Baldini, A., Harper, J.W., Elledge, S.J. Genes Dev. (1995) [Pubmed]
  23. 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, Y.L., Shuman, C., Wei, C., Steele, L., Cameron, J., Smith, A., Ambus, I., Li, M., Ray, P.N., Sadowski, P., Squire, J. Hum. Mol. Genet. (2001) [Pubmed]
  24. Molecular characterization of Beckwith-Wiedemann syndrome (BWS) patients with partial duplication of chromosome 11p excludes the gene MYOD1 from the BWS region. Weksberg, R., Glaves, M., Teshima, I., Waziri, M., Patil, S., Williams, B.R. Genomics (1990) [Pubmed]
  25. C11orf21, a novel gene within the Beckwith-Wiedemann syndrome region in human chromosome 11p15.5. Zhu, X., Higashimoto, K., Soejima, H., Yatsuki, H., Sugihara, H., Mukai, T., Joh, K. Gene (2000) [Pubmed]
  26. Sequence-based structural features between Kvlqt1 and Tapa1 on mouse chromosome 7F4/F5 corresponding to the Beckwith-Wiedemann syndrome region on human 11p15.5: long-stretches of unusually well conserved intronic sequences of kvlqt1 between mouse and human. Yatsuki, H., Watanabe, H., Hattori, M., Joh, K., Soejima, H., Komoda, H., Xin, Z., Zhu, X., Higashimoto, K., Nishimura, M., Kuratomi, S., Sasaki, H., Sakaki, Y., Mukai, T. DNA Res. (2000) [Pubmed]
  27. Loss of heterozygosity in non-tumoral tissue in two children with Beckwith-Wiedemann syndrome. Schneid, H., Vazquez, M.P., Seurin, D., le Bouc, Y. Growth Regul. (1991) [Pubmed]
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