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p.R270X MECP2 mutation and mortality in Rett syndrome.
Jian L, Archer HL, Ravine D, Kerr A, de Klerk N, Christodoulou J, Bailey ME, Laurvick C, Leonard H. Jian L, et al. Among authors: ravine d. Eur J Hum Genet. 2005 Nov;13(11):1235-8. doi: 10.1038/sj.ejhg.5201479. Eur J Hum Genet. 2005. PMID: 16077729
Rett syndrome in Australia: a review of the epidemiology.
Laurvick CL, de Klerk N, Bower C, Christodoulou J, Ravine D, Ellaway C, Williamson S, Leonard H. Laurvick CL, et al. Among authors: ravine d. J Pediatr. 2006 Mar;148(3):347-52. doi: 10.1016/j.jpeds.2005.10.037. J Pediatr. 2006. PMID: 16615965
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: ravine d. 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.
Predictors of seizure onset in Rett syndrome.
Jian L, Nagarajan L, de Klerk N, Ravine D, Bower C, Anderson A, Williamson S, Christodoulou J, Leonard H. Jian L, et al. Among authors: ravine d. J Pediatr. 2006 Oct;149(4):542-7. doi: 10.1016/j.jpeds.2006.06.015. J Pediatr. 2006. PMID: 17011329
Seizures in Rett syndrome: an overview from a one-year calendar study.
Jian L, Nagarajan L, de Klerk N, Ravine D, Christodoulou J, Leonard H. Jian L, et al. Among authors: ravine d. Eur J Paediatr Neurol. 2007 Sep;11(5):310-7. doi: 10.1016/j.ejpn.2007.02.008. Epub 2007 Apr 11. Eur J Paediatr Neurol. 2007. PMID: 17433737 Free PMC article.
The diagnosis of autism in a female: could it be Rett syndrome?
Young DJ, Bebbington A, Anderson A, Ravine D, Ellaway C, Kulkarni A, de Klerk N, Kaufmann WE, Leonard H. Young DJ, et al. Among authors: ravine d. Eur J Pediatr. 2008 Jun;167(6):661-9. doi: 10.1007/s00431-007-0569-x. Epub 2007 Aug 8. Eur J Pediatr. 2008. PMID: 17684768
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: ravine d. 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.
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. Among authors: ravine d. 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.
84 results