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Journal Abstract Search

383 related items for PubMed ID: 18174548

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  • 2. Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders.
    Wong VC, Li SY.
    J Child Neurol; 2007 Dec; 22(12):1397-400. PubMed ID: 18174559
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  • 9. The incidence of Rett syndrome in France.
    Bienvenu T, Philippe C, De Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Feingold J, Chelly J, Villard L.
    Pediatr Neurol; 2006 May; 34(5):372-5. PubMed ID: 16647997
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  • 11. Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.
    Philippe C, Villard L, De Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T.
    Eur J Med Genet; 2006 May; 49(1):9-18. PubMed ID: 16473305
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  • 14. Novel mutations in the C-terminal region of the MECP2 gene in Tunisian Rett syndrome patients.
    Fendri-Kriaa N, Rouissi A, Ghorbel R, Mkaouar-Rebai E, Belguith N, Gouider-Khouja N, Fakhfakh F.
    J Child Neurol; 2012 May; 27(5):564-8. PubMed ID: 21940684
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  • 15. RettBASE: The IRSA MECP2 variation database-a new mutation database in evolution.
    Christodoulou J, Grimm A, Maher T, Bennetts B.
    Hum Mutat; 2003 May; 21(5):466-72. PubMed ID: 12673788
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  • 18. 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; 33(1):69-76. PubMed ID: 20116947
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  • 19. Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome.
    Takahashi S, Ohinata J, Makita Y, Suzuki N, Araki A, Sasaki A, Murono K, Tanaka H, Fujieda K.
    Clin Genet; 2008 Mar; 73(3):257-61. PubMed ID: 18190595
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