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InterRett, a model for international data collection in a rare genetic disorder.
Louise S, Fyfe S, Bebbington A, Bahi-Buisson N, Anderson A, Pineda M, Percy A, Ben Zeev B, Wu XR, Bao X, Mac Leod P, Armstrong J, Leonard H. Louise S, et al. Among authors: bebbington a. Res Autism Spectr Disord. 2009 Jul;3(3):10.1016/j.rasd.2008.12.004. doi: 10.1016/j.rasd.2008.12.004. Res Autism Spectr Disord. 2009. PMID: 24348750 Free PMC article.
Updating the profile of C-terminal MECP2 deletions in Rett syndrome.
Bebbington A, Percy A, Christodoulou J, Ravine D, Ho G, Jacoby P, Anderson A, Pineda M, Ben Zeev B, Bahi-Buisson N, Smeets E, Leonard H. Bebbington A, et al. J Med Genet. 2010 Apr;47(4):242-8. doi: 10.1136/jmg.2009.072553. Epub 2009 Nov 12. J Med Genet. 2010. PMID: 19914908 Free PMC article.
Linking MECP2 and pain sensitivity: the example of Rett syndrome.
Downs J, Géranton SM, Bebbington A, Jacoby P, Bahi-Buisson N, Ravine D, Leonard H. Downs J, et al. Among authors: bebbington a. Am J Med Genet A. 2010 May;152A(5):1197-205. doi: 10.1002/ajmg.a.33314. Am J Med Genet A. 2010. PMID: 20425824 Free PMC article.
The phenotype associated with a large deletion on MECP2.
Bebbington A, Downs J, Percy A, Pineda M, Zeev BB, Bahi-Buisson N, Leonard H. Bebbington A, et al. Eur J Hum Genet. 2012 Sep;20(9):921-7. doi: 10.1038/ejhg.2012.34. Epub 2012 Apr 4. Eur J Hum Genet. 2012. PMID: 22473088 Free PMC article.
Gross motor profile in rett syndrome as determined by video analysis.
Downs JA, Bebbington A, Jacoby P, Msall ME, McIlroy O, Fyfe S, Bahi-Buisson N, Kaufmann WE, Leonard H. Downs JA, et al. Among authors: bebbington a. Neuropediatrics. 2008 Aug;39(4):205-10. doi: 10.1055/s-0028-1104575. Epub 2009 Jan 22. Neuropediatrics. 2008. PMID: 19165708 Free PMC article.
Longitudinal hand function in Rett syndrome.
Downs J, Bebbington A, Kaufmann WE, Leonard H. Downs J, et al. Among authors: bebbington a. J Child Neurol. 2011 Mar;26(3):334-40. doi: 10.1177/0883073810381920. Epub 2010 Oct 4. J Child Neurol. 2011. PMID: 20921565
74 results