Christodoulou J - Search Results

1

Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements.

Schönewolf-Greulich B, Bisgaard AM, Dunø M, Jespersgaard C, Rokkjaer M, Hansen LK, Tsoutsou E, Sofokleous C, Topcu M, Kaur S, Van Bergen NJ, Brøndum-Nielsen K, Larsen MJ, Sørensen KP, Christodoulou J, Fagerberg CR, Tümer Z. Schönewolf-Greulich B, et al. Among authors: christodoulou j. Clin Genet. 2019 Mar;95(3):403-408. doi: 10.1111/cge.13473. Epub 2018 Dec 7. Clin Genet. 2019. PMID: 30417326 Review.

2

Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients.

Christodoulou J, Danks DM, Sarkar B, Baerlocher KE, Casey R, Horn N, Tümer Z, Clarke JT. Christodoulou J, et al. Am J Med Genet. 1998 Mar 5;76(2):154-64. Am J Med Genet. 1998. PMID: 9511979

3

A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening.

Ellaway CJ, Badawi N, Raffaele L, Christodoulou J, Leonard H. Ellaway CJ, et al. Among authors: christodoulou j. Clin Dysmorphol. 2001 Jul;10(3):185-8. doi: 10.1097/00019605-200107000-00006. Clin Dysmorphol. 2001. PMID: 11446411

4

Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.

Weaving LS, Williamson SL, Bennetts B, Davis M, Ellaway CJ, Leonard H, Thong MK, Delatycki M, Thompson EM, Laing N, Christodoulou J. Weaving LS, et al. Among authors: christodoulou j. Am J Med Genet A. 2003 Apr 15;118A(2):103-14. doi: 10.1002/ajmg.a.10053. Am J Med Genet A. 2003. PMID: 12655490

5

MECP2 and beyond: phenotype-genotype correlations in Rett syndrome.

Christodoulou J, Weaving LS. Christodoulou J, et al. J Child Neurol. 2003 Oct;18(10):669-74. doi: 10.1177/08830738030180100901. J Child Neurol. 2003. PMID: 14649547 Review.

6

Gene symbol: ATP7A. Disease: Menkes disease.

Tumer Z, Horn N, Tonnesen T, Christodoulou J, Clarke JT, Sarkar B. Tumer Z, et al. Among authors: christodoulou j. Hum Genet. 2004 May;114(6):606. Hum Genet. 2004. PMID: 15176369 No abstract available.

7

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.

8

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.

9

Reduced proportion of Purkinje cells expressing paternally derived mutant Mecp2308 allele in female mouse cerebellum is not due to a skewed primary pattern of X-chromosome inactivation.

Watson CM, Pelka GJ, Radziewic T, Shahbazian MD, Christodoulou J, Williamson SL, Tam PP. Watson CM, et al. Among authors: christodoulou j. Hum Mol Genet. 2005 Jul 1;14(13):1851-61. doi: 10.1093/hmg/ddi191. Epub 2005 May 11. Hum Mol Genet. 2005. PMID: 15888476

10

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: christodoulou j. Eur J Hum Genet. 2005 Nov;13(11):1235-8. doi: 10.1038/sj.ejhg.5201479. Eur J Hum Genet. 2005. PMID: 16077729

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