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675 related items for PubMed ID: 18842453

  • 1. Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome.
    Buoni S, Zannolli R, Felice CD, Saponari S, Strambi M, Dotti MT, Castrucci E, Corbini L, Orsi A, Hayek J.
    Clin Neurophysiol; 2008 Nov; 119(11):2455-8. PubMed ID: 18842453
    [Abstract] [Full Text] [Related]

  • 2. 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; 51(7):1252-8. PubMed ID: 20491871
    [Abstract] [Full Text] [Related]

  • 3. The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome.
    Nectoux J, Bahi-Buisson N, Guellec I, Coste J, De Roux N, Rosas H, Tardieu M, Chelly J, Bienvenu T.
    Neurology; 2008 May 27; 70(22 Pt 2):2145-51. PubMed ID: 18434641
    [Abstract] [Full Text] [Related]

  • 4. Epilepsy in Rett syndrome: clinical and genetic features.
    Pintaudi M, Calevo MG, Vignoli A, Parodi E, Aiello F, Baglietto MG, Hayek Y, Buoni S, Renieri A, Russo S, Cogliati F, Giordano L, Canevini M, Veneselli E.
    Epilepsy Behav; 2010 Nov 27; 19(3):296-300. PubMed ID: 20728410
    [Abstract] [Full Text] [Related]

  • 5. EEG features and epilepsy in MECP2-mutated patients with the Zappella variant of Rett syndrome.
    Buoni S, Zannolli R, De Felice C, De Nicola A, Guerri V, Guerra B, Casali S, Pucci B, Corbini L, Mari F, Renieri A, Zappella M, Hayek J.
    Clin Neurophysiol; 2010 May 27; 121(5):652-7. PubMed ID: 20153689
    [Abstract] [Full Text] [Related]

  • 6. 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 27; 116(6):413-9. PubMed ID: 17986102
    [Abstract] [Full Text] [Related]

  • 7. 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]

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

  • 9. 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 10; 27(3):211-7. PubMed ID: 15737703
    [Abstract] [Full Text] [Related]

  • 10. People with MECP2 mutation-positive Rett disorder who converse.
    Kerr AM, Archer HL, Evans JC, Prescott RJ, Gibbon F.
    J Intellect Disabil Res; 2006 May 10; 50(Pt 5):386-94. PubMed ID: 16629931
    [Abstract] [Full Text] [Related]

  • 11. Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.
    Hardwick SA, Reuter K, Williamson SL, Vasudevan V, Donald J, Slater K, Bennetts B, Bebbington A, Leonard H, Williams SR, Smith RL, Cloosterman D, Christodoulou J.
    Eur J Hum Genet; 2007 Dec 10; 15(12):1218-29. PubMed ID: 17712354
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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 05; 24(1):49-55. PubMed ID: 19168818
    [Abstract] [Full Text] [Related]

  • 15. Investigating genotype-phenotype relationships in Rett syndrome using an international data set.
    Bebbington A, Anderson A, Ravine D, Fyfe S, Pineda M, de Klerk N, Ben-Zeev B, Yatawara N, Percy A, Kaufmann WE, Leonard H.
    Neurology; 2008 Mar 11; 70(11):868-75. PubMed ID: 18332345
    [Abstract] [Full Text] [Related]

  • 16. 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 Mar 11; 49(1):9-18. PubMed ID: 16473305
    [Abstract] [Full Text] [Related]

  • 17. Large genomic rearrangements in MECP2.
    Ravn K, Nielsen JB, Skjeldal OH, Kerr A, Hulten M, Schwartz M.
    Hum Mutat; 2005 Mar 11; 25(3):324. PubMed ID: 15712379
    [Abstract] [Full Text] [Related]

  • 18. Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome.
    Charman T, Neilson TC, Mash V, Archer H, Gardiner MT, Knudsen GP, McDonnell A, Perry J, Whatley SD, Bunyan DJ, Ravn K, Mount RH, Hastings RP, Hulten M, Orstavik KH, Reilly S, Cass H, Clarke A, Kerr AM, Bailey ME.
    Eur J Hum Genet; 2005 Oct 11; 13(10):1121-30. PubMed ID: 16077736
    [Abstract] [Full Text] [Related]

  • 19. 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 11; 22(12):1397-400. PubMed ID: 18174559
    [Abstract] [Full Text] [Related]

  • 20. Movement disorders in Rett syndrome: an analysis of 60 patients with detected MECP2 mutation and correlation with mutation type.
    Temudo T, Ramos E, Dias K, Barbot C, Vieira JP, Moreira A, Calado E, Carrilho I, Oliveira G, Levy A, Fonseca M, Cabral A, Cabral P, Monteiro JP, Borges L, Gomes R, Santos M, Sequeiros J, Maciel P.
    Mov Disord; 2008 Jul 30; 23(10):1384-90. PubMed ID: 18512755
    [Abstract] [Full Text] [Related]

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