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1199 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 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
    [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 10; 116(6):413-9. PubMed ID: 17986102
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  • 8. MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients.
    Moog U, Van Roozendaal K, Smeets E, Tserpelis D, Devriendt K, Buggenhout GV, Frijns JP, Schrander-Stumpel C.
    Brain Dev; 2006 Jun 10; 28(5):305-10. PubMed ID: 16376510
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 10. 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 Jan 10; 8(2):99-105. PubMed ID: 12112735
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 12. 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 10; 27(6):439-42. PubMed ID: 16122633
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

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

  • 15. Social impairments in Rett syndrome: characteristics and relationship with clinical severity.
    Kaufmann WE, Tierney E, Rohde CA, Suarez-Pedraza MC, Clarke MA, Salorio CF, Bibat G, Bukelis I, Naram D, Lanham DC, Naidu S.
    J Intellect Disabil Res; 2012 Mar 10; 56(3):233-47. PubMed ID: 21385260
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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
    [Abstract] [Full Text] [Related]

  • 20. 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 10; 18(3):253. PubMed ID: 11524741
    [Abstract] [Full Text] [Related]

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