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Page 1
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
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
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
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
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.
Valproate and risk of fracture in Rett syndrome.
Leonard H, Downs J, Jian L, Bebbington A, Jacoby P, Nagarajan L, Ravine D, Woodhead H. Leonard H, et al. Among authors: ravine d. Arch Dis Child. 2010 Jun;95(6):444-8. doi: 10.1136/adc.2008.148932. Arch Dis Child. 2010. PMID: 20501539
NTNG1 mutations are a rare cause of Rett syndrome.
Archer HL, Evans JC, Millar DS, Thompson PW, Kerr AM, Leonard H, Christodoulou J, Ravine D, Lazarou L, Grove L, Verity C, Whatley SD, Pilz DT, Sampson JR, Clarke AJ. Archer HL, et al. Among authors: ravine d. Am J Med Genet A. 2006 Apr 1;140(7):691-4. doi: 10.1002/ajmg.a.31133. Am J Med Genet A. 2006. PMID: 16502428 Free PMC article.
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.
84 results