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Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation.
Archer H, Evans J, Leonard H, Colvin L, Ravine D, Christodoulou J, Williamson S, Charman T, Bailey ME, Sampson J, de Klerk N, Clarke A. Archer H, et al. Among authors: charman t. J Med Genet. 2007 Feb;44(2):148-52. doi: 10.1136/jmg.2006.045260. Epub 2006 Aug 11. J Med Genet. 2007. PMID: 16905679 Free PMC article.
Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome.
Charman T, Neilson TC, Mash V, Archer H, Gardiner MT, Knudsen GP, McDonnell A, Perry J, Whatley SD, Bunyan DJ, Ravn K, Mount RH, Hastings RP, Hulten M, Orstavik KH, Reilly S, Cass H, Clarke A, Kerr AM, Bailey ME. Charman T, et al. Eur J Hum Genet. 2005 Oct;13(10):1121-30. doi: 10.1038/sj.ejhg.5201471. Eur J Hum Genet. 2005. PMID: 16077736
Regression in individuals with Rett syndrome.
Charman T, Cass H, Owen L, Wigram T, Slonims V, Weeks L, Wisbeach A, Reilly S. Charman T, et al. Brain Dev. 2002 Aug;24(5):281-3. doi: 10.1016/s0387-7604(02)00058-x. Brain Dev. 2002. PMID: 12142064
Behavioural and emotional features in Rett syndrome.
Mount RH, Hastings RP, Reilly S, Cass H, Charman T. Mount RH, et al. Among authors: charman t. Disabil Rehabil. 2001 Feb 15-Mar 10;23(3-4):129-38. doi: 10.1080/09638280150504207. Disabil Rehabil. 2001. PMID: 11247008 Review.
Behaviour problems in adult women with Rett syndrome.
Mount RH, Hastings RP, Reilly S, Cass H, Charman T. Mount RH, et al. Among authors: charman t. J Intellect Disabil Res. 2002 Nov;46(Pt 8):619-24. doi: 10.1046/j.1365-2788.2002.00442.x. J Intellect Disabil Res. 2002. PMID: 12427169
Towards a behavioral phenotype for Rett syndrome.
Mount RH, Hastings RP, Reilly S, Cass H, Charman T. Mount RH, et al. Among authors: charman t. Am J Ment Retard. 2003 Jan;108(1):1-12. doi: 10.1352/0895-8017(2003)108<0001:TABPFR>2.0.CO;2. Am J Ment Retard. 2003. PMID: 12475362
472 results