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459 related items for PubMed ID: 16630165

  • 1. 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
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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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  • 10. [Mutational analysis of MECP2 gene in Rett syndrome].
    Pan H, Wang Y, Meng H, Bao X, Zhang Y, Shen Y, Wu X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2002 Aug 05; 19(4):276-80. PubMed ID: 12170461
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  • 11. 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
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  • 12. Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome.
    Schollen E, Smeets E, Deflem E, Fryns JP, Matthijs G.
    Hum Mutat; 2003 Aug 05; 22(2):116-20. PubMed ID: 12872251
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  • 16. MeCP2 dysfunction in Rett syndrome and related disorders.
    Moretti P, Zoghbi HY.
    Curr Opin Genet Dev; 2006 Jun 05; 16(3):276-81. PubMed ID: 16647848
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  • 18. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.
    Archer HL, Whatley SD, Evans JC, Ravine D, Huppke P, Kerr A, Bunyan D, Kerr B, Sweeney E, Davies SJ, Reardon W, Horn J, MacDermot KD, Smith RA, Magee A, Donaldson A, Crow Y, Hermon G, Miedzybrodzka Z, Cooper DN, Lazarou L, Butler R, Sampson J, Pilz DT, Laccone F, Clarke AJ.
    J Med Genet; 2006 May 05; 43(5):451-6. PubMed ID: 16183801
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  • 19. 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 05; 34(6):487-95. PubMed ID: 21982064
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  • 20. A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1.
    Chunshu Y, Endoh K, Soutome M, Kawamura R, Kubota T.
    Clin Genet; 2006 Dec 05; 70(6):530-1. PubMed ID: 17101000
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