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Beckwith-Wiedemann Syndrome:References



Algar, E., Dagar, V., Sebaj, M., &Pachter, N. (2011). An 11p15 imprinting centre region 2 deletion in a family with Beckwith-Wiedemann Syndrome provides insights into imprinting control at CDKN1C. PLoS One, 6(12), e29034. Retrieved from http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3242768/?report=classic


Beckwith-Wiedemann syndrome. Genetics Home Reference.(2008, April). Retrieved October 2014, from http://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome#definition


Bowdin, S., Allen, C., Kirby, G., Brueton, L., Afnan, M., Barratt, C., Kirkman-Brown, J., . . . Reardon, W. (2007). A survey of assisted reproductive technology and imprinting disorders. Human Reproduction, 22(12), 3237 – 3240. doi: 10.1093/humrep/dem268


De Crescenzo, A., Coppola, F., Falco, P., Bernardo, I., Ausanio, G., Cerrato, F., ...Riccio, A. (2011). A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith-Wiedemann syndrome. European Jounral of Medical Genetics, 54(4), e451 – e454. doi: 10.1016/j.ejmg.2011.04.009


De-Gruyter. 2014. Retrieved from http://www.degruyter.com/view/j/crpm.2014.3.issue-1/crpm-2013-0068/crpm-2013-0068.xml


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Health Fox. 2013. Retrieved from http://healthfoxx.com/beckwith-wiedemann-syndrome-pictures-prognosis-management/


Ibrahim, A., Kirby, G., Hardy, C., Dias, R. P., Tee, L., Lim, D., . . . Maher, E. R. (2014). Methylation analysis and diagnostics of Beckwith-Weidemann syndrome in 1,000 subjects. Clinical Epigenetics, 6(1), 11.doi: 10.1186/1868-7083-6-11


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Shuman, C. , Adam, S. , Beckwith, J. , Weksberg, R. , (2000) Beckwith-Wiedemann syndrome. University of Washington, Seattle.


Weksberg, R., Shuman, C., & Beckwith, B. J. (2010). Beckwith–Wiedemann syndrome. European Journal of Human Genetics, 18(1), 8–14. doi:10.1038/ejhg.2009.106


Weksberg, R., Shuman, C., Caluseriu, O., Smith, A.C., Fei,Y. L., Nishikawa, J., …and Squire, J. (2002), Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. Human Molecular Genetics, 11(11), 1317.


Weng, E.Y., Moeschler, J.B., and Graham, J.M. (1995), Longitudinal observation on 15 children with Beckwith-Wiedemann syndrome. American Journal of Medical Geneticist, 56(4), 366- 373.




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