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Journal Abstract Search

394 related items for PubMed ID: 16023547

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  • 5. Closely related Swedish Rett Syndrome females - none with MECP2 mutation revealed.
    Xiang F, Stenbom Y, Anvret M, Hagberg B.
    Neuropediatrics; 2001 Aug; 32(4):217-8. PubMed ID: 11571704
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  • 7. Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation.
    Yamada Y, Miura K, Kumagai T, Hayakawa C, Miyazaki S, Matsumoto A, Kurosawa K, Nomura N, Taniguchi H, Sonta SI, Yamanaka T, Wakamatsu N.
    Hum Mutat; 2001 Sep; 18(3):253. PubMed ID: 11524741
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  • 8. Altered methylation pattern of the G6 PD promoter in Rett syndrome.
    Huppke P, Bohlander S, Krämer N, Laccone F, Hanefeld F.
    Neuropediatrics; 2002 Apr; 33(2):105-8. PubMed ID: 12075494
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  • 10. MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome.
    Wan M, Zhao K, Lee SS, Francke U.
    Hum Mol Genet; 2001 May 01; 10(10):1085-92. PubMed ID: 11331619
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  • 11. 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 01; 27(6):439-42. PubMed ID: 16122633
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  • 12. 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 Sep 01; 8(2):99-105. PubMed ID: 12112735
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  • 13. Rett syndrome: of girls and mice--lessons for regression in autism.
    Glaze DG.
    Ment Retard Dev Disabil Res Rev; 2004 Sep 01; 10(2):154-8. PubMed ID: 15362175
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  • 14. Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy.
    Bienvenu T, Souville I, Poirier K, Aquaviva C, Burglen L, Amiel J, Héron B, Kaminska A, Couvert P, Beldjord C, Chelly J.
    Hum Mutat; 2001 Sep 01; 18(3):251-2. PubMed ID: 11524737
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  • 17. Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome.
    Kim SJ, Cook EH.
    Hum Mutat; 2000 Apr 01; 15(4):382-3. PubMed ID: 10737989
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  • 19. Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.
    Miltenberger-Miltenyi G, Laccone F.
    Hum Mutat; 2003 Aug 01; 22(2):107-15. PubMed ID: 12872250
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