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Arts syndrome is caused by loss-of-function mutations in PRPS1.
de Brouwer AP, Williams KL, Duley JA, van Kuilenburg AB, Nabuurs SB, Egmont-Petersen M, Lugtenberg D, Zoetekouw L, Banning MJ, Roeffen M, Hamel BC, Weaving L, Ouvrier RA, Donald JA, Wevers RA, Christodoulou J, van Bokhoven H. de Brouwer AP, et al. Among authors: christodoulou j. Am J Hum Genet. 2007 Sep;81(3):507-18. doi: 10.1086/520706. Epub 2007 Aug 3. Am J Hum Genet. 2007. PMID: 17701896 Free PMC article.
Refining the phenotype of common mutations in Rett syndrome.
Colvin L, Leonard H, de Klerk N, Davis M, Weaving L, Williamson S, Christodoulou J. Colvin L, et al. Among authors: christodoulou j. J Med Genet. 2004 Jan;41(1):25-30. doi: 10.1136/jmg.2003.011130. J Med Genet. 2004. PMID: 14729826 Free PMC article. No abstract available.
Trisomy 21 and Rett syndrome: a double burden.
Leonard H, Weaving L, Eastaugh P, Smith L, Delatycki M, Witt Engerström I, Christodoulou J. Leonard H, et al. Among authors: christodoulou j. J Paediatr Child Health. 2004 Jul;40(7):406-9. doi: 10.1111/j.1440-1754.2004.00413.x. J Paediatr Child Health. 2004. PMID: 15228575
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.
Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, Evans J, Clarke A, Pelka GJ, Tam PP, Watson C, Lahooti H, Ellaway CJ, Bennetts B, Leonard H, Gécz J. Weaving LS, et al. Among authors: christodoulou j. Am J Hum Genet. 2004 Dec;75(6):1079-93. doi: 10.1086/426462. Epub 2004 Oct 18. Am J Hum Genet. 2004. PMID: 15492925 Free PMC article.
Rett syndrome: clinical review and genetic update.
Weaving LS, Ellaway CJ, Gécz J, Christodoulou J. Weaving LS, et al. Among authors: christodoulou j. J Med Genet. 2005 Jan;42(1):1-7. doi: 10.1136/jmg.2004.027730. J Med Genet. 2005. PMID: 15635068 Free PMC article. Review.
PRPS1 mutations: four distinct syndromes and potential treatment.
de Brouwer AP, van Bokhoven H, Nabuurs SB, Arts WF, Christodoulou J, Duley J. de Brouwer AP, et al. Among authors: christodoulou j. Am J Hum Genet. 2010 Apr 9;86(4):506-18. doi: 10.1016/j.ajhg.2010.02.024. Am J Hum Genet. 2010. PMID: 20380929 Free PMC article. Review.
601 results