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Journal Abstract Search


1202 related items for PubMed ID: 21982064

  • 1. 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
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  • 2. 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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  • 3. Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation.
    Tejada MI, Peñagarikano O, Rodriguez-Revenga L, Martinez-Bouzas C, García B, Bádenas C, Guitart M, Minguez M, García-Alegría E, Sanz-Parra A, Beristain E, Milá M.
    Clin Genet; 2006 Aug 05; 70(2):140-4. PubMed ID: 16879196
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  • 4. Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations.
    Temudo T, Oliveira P, Santos M, Dias K, Vieira J, Moreira A, Calado E, Carrilho I, Oliveira G, Levy A, Barbot C, Fonseca M, Cabral A, Dias A, Cabral P, Monteiro J, Borges L, Gomes R, Barbosa C, Mira G, Eusébio F, Santos M, Sequeiros J, Maciel P.
    Neurology; 2007 Apr 10; 68(15):1183-7. PubMed ID: 17420401
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  • 5. Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion.
    Psoni S, Sofocleous C, Traeger-Synodinos J, Kitsiou-Tzeli S, Kanavakis E, Fryssira-Kanioura H.
    Pediatr Res; 2010 May 10; 67(5):551-6. PubMed ID: 20098342
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  • 6. 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 10; 22(12):1397-400. PubMed ID: 18174559
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  • 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 10; 116(6):413-9. PubMed ID: 17986102
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  • 9. Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or related neurodevelopmental phenotype in male patients.
    Santos M, Temudo T, Kay T, Carrilho I, Medeira A, Cabral H, Gomes R, Lourenço MT, Venâncio M, Calado E, Moreira A, Oliveira G, Maciel P.
    J Child Neurol; 2009 Jan 10; 24(1):49-55. PubMed ID: 19168818
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  • 11. Epilepsy in Rett syndrome---the experience of a National Rett Center.
    Nissenkorn A, Gak E, Vecsler M, Reznik H, Menascu S, Ben Zeev B.
    Epilepsia; 2010 Jul 10; 51(7):1252-8. PubMed ID: 20491871
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  • 13. MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning.
    Zahorakova D, Lelkova P, Gregor V, Magner M, Zeman J, Martasek P.
    J Hum Genet; 2016 Jul 10; 61(7):617-25. PubMed ID: 26984561
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  • 16. X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype.
    Xinhua Bao, Shengling Jiang, Fuying Song, Hong Pan, Meirong Li, Wu XR.
    J Child Neurol; 2008 Jan 10; 23(1):22-5. PubMed ID: 18184939
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  • 18. 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 10; 69(4):319-26. PubMed ID: 16630165
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  • 19. 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 10; 27(5):564-8. PubMed ID: 21940684
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