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Journal Abstract Search

791 related items for PubMed ID: 18948693

  • 1. Rett syndrome: from the gene to the disease.
    Matijevic T, Knezevic J, Slavica M, Pavelic J.
    Eur Neurol; 2009; 61(1):3-10. PubMed ID: 18948693
    [Abstract] [Full Text] [Related]

  • 2. 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; 49(1):9-18. PubMed ID: 16473305
    [Abstract] [Full Text] [Related]

  • 3. The MECP2 gene mutation screening in Rett syndrome patients from Croatia.
    Matijević T, Knezević J, Barisić I, Resić B, Culić V, Pavelić J.
    Ann N Y Acad Sci; 2006 Dec; 1091():225-32. PubMed ID: 17341617
    [Abstract] [Full Text] [Related]

  • 4. Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene.
    Bartholdi D, Klein A, Weissert M, Koenig N, Baumer A, Boltshauser E, Schinzel A, Berger W, Mátyás G.
    Clin Genet; 2006 Apr; 69(4):319-26. PubMed ID: 16630165
    [Abstract] [Full Text] [Related]

  • 5. 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 Apr; 8(2):99-105. PubMed ID: 12112735
    [Abstract] [Full Text] [Related]

  • 6. MeCP2 dysfunction in Rett syndrome and related disorders.
    Moretti P, Zoghbi HY.
    Curr Opin Genet Dev; 2006 Jun; 16(3):276-81. PubMed ID: 16647848
    [Abstract] [Full Text] [Related]

  • 7. MECP2 mutations in Serbian Rett syndrome patients.
    Djarmati A, Dobricić V, Kecmanović M, Marsh P, Jancić-Stefanović J, Klein C, Djurić M, Romac S.
    Acta Neurol Scand; 2007 Dec; 116(6):413-9. PubMed ID: 17986102
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome.
    Amano K, Nomura Y, Segawa M, Yamakawa K.
    J Hum Genet; 2000 Sep; 45(4):231-6. PubMed ID: 10944854
    [Abstract] [Full Text] [Related]

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  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. Spectrum of MECP2 mutations in New Zealand Rett syndrome patients.
    Raizis AM, Saleem M, MacKay R, George PM.
    N Z Med J; 2009 Jun 05; 122(1296):21-8. PubMed ID: 19652677
    [Abstract] [Full Text] [Related]

  • 13. 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 05; 9(3):231-6. PubMed ID: 11313764
    [Abstract] [Full Text] [Related]

  • 14. Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.
    Miltenberger-Miltenyi G, Laccone F.
    Hum Mutat; 2003 Aug 05; 22(2):107-15. PubMed ID: 12872250
    [Abstract] [Full Text] [Related]

  • 15. Postnatal loss of methyl-CpG binding protein 2 in the forebrain is sufficient to mediate behavioral aspects of Rett syndrome in mice.
    Gemelli T, Berton O, Nelson ED, Perrotti LI, Jaenisch R, Monteggia LM.
    Biol Psychiatry; 2006 Mar 01; 59(5):468-76. PubMed ID: 16199017
    [Abstract] [Full Text] [Related]

  • 16. Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms.
    Fukuda T, Yamashita Y, Nagamitsu S, Miyamoto K, Jin JJ, Ohmori I, Ohtsuka Y, Kuwajima K, Endo S, Iwai T, Yamagata H, Tabara Y, Miki T, Matsuishi T, Kondo I.
    Brain Dev; 2005 Apr 01; 27(3):211-7. PubMed ID: 15737703
    [Abstract] [Full Text] [Related]

  • 17. Deleterious mutations in exon 1 of MECP2 in Rett syndrome.
    Quenard A, Yilmaz S, Fontaine H, Bienvenu T, Moncla A, des Portes V, Rivier F, Mathieu M, Raux G, Jonveaux P, Philippe C.
    Eur J Med Genet; 2006 Apr 01; 49(4):313-22. PubMed ID: 16829352
    [Abstract] [Full Text] [Related]

  • 18. The story of Rett syndrome: from clinic to neurobiology.
    Chahrour M, Zoghbi HY.
    Neuron; 2007 Nov 08; 56(3):422-37. PubMed ID: 17988628
    [Abstract] [Full Text] [Related]

  • 19. [Rett syndrome: clinical and molecular aspects].
    Záhoráková D, Zeman J, Martásek P.
    Cas Lek Cesk; 2007 Nov 08; 146(8):647-52. PubMed ID: 17874730
    [Abstract] [Full Text] [Related]

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