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Journal Abstract Search

740 related items for PubMed ID: 19168818

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  • 3. 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
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  • 4. 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
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  • 6. Methyl-CpG-binding protein 2 (MECP2) gene mutations in an Italian sample of patients with pervasive developmental disorder and mental retardation.
    Parmeggiani A, Tedde MR, Arbizzani A, Posar A, Scaduto MC, Santucci M, Sangiorgi S.
    J Child Neurol; 2009 Jun 05; 24(6):772-4. PubMed ID: 19189931
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  • 9. 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 05; 69(4):319-26. PubMed ID: 16630165
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  • 12. 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 05; 73(3):257-61. PubMed ID: 18190595
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  • 16. Methyl CpG-binding protein 2 (a mutation of which causes Rett syndrome) directly regulates insulin-like growth factor binding protein 3 in mouse and human brains.
    Itoh M, Ide S, Takashima S, Kudo S, Nomura Y, Segawa M, Kubota T, Mori H, Tanaka S, Horie H, Tanabe Y, Goto Y.
    J Neuropathol Exp Neurol; 2007 Feb 05; 66(2):117-23. PubMed ID: 17278996
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  • 18. 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 05; 33(2):63-8. PubMed ID: 12075485
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  • 19. No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients.
    Vourc'h P, Bienvenu T, Beldjord C, Chelly J, Barthélémy C, Müh JP, Andres C.
    Eur J Hum Genet; 2001 Jul 05; 9(7):556-8. PubMed ID: 11464249
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  • 20. Preserved speech variant is allelic of classic Rett syndrome.
    De Bona C, Zappella M, Hayek G, Meloni I, Vitelli F, Bruttini M, Cusano R, Loffredo P, Longo I, Renieri A.
    Eur J Hum Genet; 2000 May 05; 8(5):325-30. PubMed ID: 10854091
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