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Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.
Archer HL, Whatley SD, Evans JC, Ravine D, Huppke P, Kerr A, Bunyan D, Kerr B, Sweeney E, Davies SJ, Reardon W, Horn J, MacDermot KD, Smith RA, Magee A, Donaldson A, Crow Y, Hermon G, Miedzybrodzka Z, Cooper DN, Lazarou L, Butler R, Sampson J, Pilz DT, Laccone F, Clarke AJ. Archer HL, et al. Among authors: kerr a, kerr b. J Med Genet. 2006 May;43(5):451-6. doi: 10.1136/jmg.2005.033464. Epub 2005 Sep 23. J Med Genet. 2006. PMID: 16183801 Free PMC article.
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. 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.
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. Among authors: kerr am. Eur J Hum Genet. 2005 Oct;13(10):1121-30. doi: 10.1038/sj.ejhg.5201471. Eur J Hum Genet. 2005. PMID: 16077736
Early onset seizures and Rett-like features associated with mutations in CDKL5.
Evans JC, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R, Whatley SD, Clarke AJ. Evans JC, et al. Among authors: kerr a. Eur J Hum Genet. 2005 Oct;13(10):1113-20. doi: 10.1038/sj.ejhg.5201451. Eur J Hum Genet. 2005. PMID: 16015284
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: kerr a. Eur J Hum Genet. 2005 Nov;13(11):1235-8. doi: 10.1038/sj.ejhg.5201479. Eur J Hum Genet. 2005. PMID: 16077729
Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome.
Gill H, Cheadle JP, Maynard J, Fleming N, Whatley S, Cranston T, Thompson EM, Leonard H, Davis M, Christodoulou J, Skjeldal O, Hanefeld F, Kerr A, Tandy A, Ravine D, Clarke A. Gill H, et al. Among authors: kerr a. J Med Genet. 2003 May;40(5):380-4. doi: 10.1136/jmg.40.5.380. J Med Genet. 2003. PMID: 12746405 Free PMC article. No abstract available.
Review article: breaking new ground with Rett syndrome.
Kerr AM, Ravine D. Kerr AM, et al. J Intellect Disabil Res. 2003 Nov;47(Pt 8):580-7. doi: 10.1046/j.1365-2788.2003.00506.x. J Intellect Disabil Res. 2003. PMID: 14641805 Review. No abstract available.
1,370 results