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Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome.
Amir RE, Fang P, Yu Z, Glaze DG, Percy AK, Zoghbi HY, Roa BB, Van den Veyver IB. Amir RE, et al. Among authors: percy ak. J Med Genet. 2005 Feb;42(2):e15. doi: 10.1136/jmg.2004.026161. J Med Genet. 2005. PMID: 15689438 Free PMC article. No abstract available.
A de novo X;3 translocation in Rett syndrome.
Zoghbi HY, Ledbetter DH, Schultz R, Percy AK, Glaze DG. Zoghbi HY, et al. Among authors: percy ak. Am J Med Genet. 1990 Jan;35(1):148-51. doi: 10.1002/ajmg.1320350131. Am J Med Genet. 1990. PMID: 2301468
Rett syndrome: revised diagnostic criteria and nomenclature.
Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, Renieri A, Huppke P, Percy AK; RettSearch Consortium. Neul JL, et al. Among authors: percy ak. Ann Neurol. 2010 Dec;68(6):944-50. doi: 10.1002/ana.22124. Ann Neurol. 2010. PMID: 21154482 Free PMC article.
Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities.
Samaco RC, Mandel-Brehm C, Chao HT, Ward CS, Fyffe-Maricich SL, Ren J, Hyland K, Thaller C, Maricich SM, Humphreys P, Greer JJ, Percy A, Glaze DG, Zoghbi HY, Neul JL. Samaco RC, et al. Proc Natl Acad Sci U S A. 2009 Dec 22;106(51):21966-71. doi: 10.1073/pnas.0912257106. Epub 2009 Dec 9. Proc Natl Acad Sci U S A. 2009. PMID: 20007372 Free PMC article.
Hand and foot growth failure in Rett syndrome.
Schultz R, Glaze D, Motil K, Hebert D, Percy A. Schultz R, et al. J Child Neurol. 1998 Feb;13(2):71-4. doi: 10.1177/088307389801300205. J Child Neurol. 1998. PMID: 9512306
Extrapyramidal involvement in Rett's syndrome.
FitzGerald PM, Jankovic J, Glaze DG, Schultz R, Percy AK. FitzGerald PM, et al. Among authors: percy ak. Neurology. 1990 Feb;40(2):293-5. doi: 10.1212/wnl.40.2.293. Neurology. 1990. PMID: 2073236
248 results