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Journal Abstract Search

463 related items for PubMed ID: 11896459

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  • 2. Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype.
    Hoffbuhr KC, Moses LM, Jerdonek MA, Naidu S, Hoffman EP.
    Ment Retard Dev Disabil Res Rev; 2002; 8(2):99-105. PubMed ID: 12112735
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  • 3. 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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  • 4. [Developmental disorder in girls due to Rett syndrome].
    Pruissen DM, Sinke RJ, Terhal PA, Beemer FA, Peters AC.
    Ned Tijdschr Geneeskd; 2003 Aug 09; 147(32):1560-3. PubMed ID: 12942847
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  • 6. Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome.
    Amano K, Nomura Y, Segawa M, Yamakawa K.
    J Hum Genet; 2000 Aug 09; 45(4):231-6. PubMed ID: 10944854
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  • 9. Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene.
    Schwartzman JS, Bernardino A, Nishimura A, Gomes RR, Zatz M.
    Neuropediatrics; 2001 Jun 09; 32(3):162-4. PubMed ID: 11521215
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  • 11. 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 09; 33(2):63-8. PubMed ID: 12075485
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  • 14. Rett syndrome: a prototypical neurodevelopmental disorder.
    Neul JL, Zoghbi HY.
    Neuroscientist; 2004 Apr 09; 10(2):118-28. PubMed ID: 15070486
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  • 19. An explanation for another familial case of Rett syndrome: maternal germline mosaicism.
    Venâncio M, Santos M, Pereira SA, Maciel P, Saraiva JM.
    Eur J Hum Genet; 2007 Aug 09; 15(8):902-4. PubMed ID: 17440498
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  • 20. Parental origin of de novo MECP2 mutations in Rett syndrome.
    Girard M, Couvert P, Carrié A, Tardieu M, Chelly J, Beldjord C, Bienvenu T.
    Eur J Hum Genet; 2001 Mar 09; 9(3):231-6. PubMed ID: 11313764
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