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Journal Abstract Search

675 related items for PubMed ID: 18842453

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  • 23. Using a large international sample to investigate epilepsy in Rett syndrome.
    Bao X, Downs J, Wong K, Williams S, Leonard H.
    Dev Med Child Neurol; 2013 Jun; 55(6):553-8. PubMed ID: 23421866
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  • 24. MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders.
    Psoni S, Sofocleous C, Traeger-Synodinos J, Kitsiou-Tzeli S, Kanavakis E, Fryssira-Kanioura H.
    Brain Dev; 2012 Jun; 34(6):487-95. PubMed ID: 21982064
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  • 25. Late onset epileptic spasms is frequent in MECP2 gene duplication: electroclinical features and long-term follow-up of 8 epilepsy patients.
    Caumes R, Boespflug-Tanguy O, Villeneuve N, Lambert L, Delanoe C, Leheup B, Bahi-Buisson N, Auvin S.
    Eur J Paediatr Neurol; 2014 Jul; 18(4):475-81. PubMed ID: 24703762
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  • 26. Influence of mutation type and location on phenotype in 123 patients with Rett syndrome.
    Huppke P, Held M, Hanefeld F, Engel W, Laccone F.
    Neuropediatrics; 2002 Apr; 33(2):63-8. PubMed ID: 12075485
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  • 27. Histone modifications in Rett syndrome lymphocytes: a preliminary evaluation.
    Kaufmann WE, Jarrar MH, Wang JS, Lee YJ, Reddy S, Bibat G, Naidu S.
    Brain Dev; 2005 Aug; 27(5):331-9. PubMed ID: 16023547
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  • 28. Classic Rett syndrome in a boy with R133C mutation of MECP2.
    Masuyama T, Matsuo M, Jing JJ, Tabara Y, Kitsuki K, Yamagata H, Kan Y, Miki T, Ishii K, Kondo I.
    Brain Dev; 2005 Sep; 27(6):439-42. PubMed ID: 16122633
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  • 29. Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation.
    Tejada MI, Peñagarikano O, Rodriguez-Revenga L, Martinez-Bouzas C, García B, Bádenas C, Guitart M, Minguez M, García-Alegría E, Sanz-Parra A, Beristain E, Milá M.
    Clin Genet; 2006 Aug; 70(2):140-4. PubMed ID: 16879196
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  • 30. Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature.
    Vignoli A, Borgatti R, Peron A, Zucca C, Ballarati L, Bonaglia C, Bellini M, Giordano L, Romaniello R, Bedeschi MF, Epifanio R, Russo S, Caselli R, Giardino D, Darra F, La Briola F, Banderali G, Canevini MP.
    Epilepsia; 2012 Jul; 53(7):1146-55. PubMed ID: 22578097
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  • 31. Early determinants of fractures in Rett syndrome.
    Downs J, Bebbington A, Woodhead H, Jacoby P, Jian L, Jefferson A, Leonard H.
    Pediatrics; 2008 Mar; 121(3):540-6. PubMed ID: 18310203
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  • 34. MeCP2 expression and function during brain development: implications for Rett syndrome's pathogenesis and clinical evolution.
    Kaufmann WE, Johnston MV, Blue ME.
    Brain Dev; 2005 Nov; 27 Suppl 1():S77-S87. PubMed ID: 16182491
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  • 35. MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother.
    Dayer AG, Bottani A, Bouchardy I, Fluss J, Antonarakis SE, Haenggeli CA, Morris MA.
    Brain Dev; 2007 Jan; 29(1):47-50. PubMed ID: 16844334
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  • 36. Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients.
    Petel-Galil Y, Ben-Zeev B, Greenbaum I, Vecsler M, Goldman B, Lohi H, Minassian BA, Gak E.
    J Med Genet; 2007 Feb; 44(2):e56. PubMed ID: 17407838
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  • 37. The story of Rett syndrome: from clinic to neurobiology.
    Chahrour M, Zoghbi HY.
    Neuron; 2007 Nov 08; 56(3):422-37. PubMed ID: 17988628
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  • 38. Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes.
    Temudo T, Santos M, Ramos E, Dias K, Vieira JP, Moreira A, Calado E, Carrilho I, Oliveira G, Levy A, Barbot C, Fonseca M, Cabral A, Cabral P, Monteiro J, Borges L, Gomes R, Mira G, Pereira SA, Santos M, Fernandes A, Epplen JT, Sequeiros J, Maciel P.
    Brain Dev; 2011 Jan 08; 33(1):69-76. PubMed ID: 20116947
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  • 39. Genotype and early development in Rett syndrome: the value of international data.
    Leonard H, Moore H, Carey M, Fyfe S, Hall S, Robertson L, Wu XR, Bao X, Pan H, Christodoulou J, Williamson S, Klerk Nd.
    Brain Dev; 2005 Nov 08; 27 Suppl 1():S59-S68. PubMed ID: 16182492
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  • 40. MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients.
    Moog U, Van Roozendaal K, Smeets E, Tserpelis D, Devriendt K, Buggenhout GV, Frijns JP, Schrander-Stumpel C.
    Brain Dev; 2006 Jun 08; 28(5):305-10. PubMed ID: 16376510
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