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Journal Abstract Search

302 related items for PubMed ID: 16506134

  • 1. [Rett syndrome: a diagnostic, clinical and molecular update].
    Tejada MI.
    Rev Neurol; 2006 Jan 07; 42 Suppl 1():S55-9. PubMed ID: 16506134
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  • 2. [Rett syndrome: clinical and molecular aspects].
    Záhoráková D, Zeman J, Martásek P.
    Cas Lek Cesk; 2007 Jan 07; 146(8):647-52. PubMed ID: 17874730
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  • 3. 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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  • 4. [Clinical phenotypes of classic Rett syndrome].
    Nieto-Barrera M, Nieto-Jiménez M, Siljeström ML.
    Rev Neurol; 2003 Feb 05; 36 Suppl 1():S146-52. PubMed ID: 12599117
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  • 5. 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 05; 22(12):1397-400. PubMed ID: 18174559
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  • 8. 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 05; 116(6):413-9. PubMed ID: 17986102
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  • 9. 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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  • 10. 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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  • 11. Somatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a male.
    Pieras JI, Muñoz-Cabello B, Borrego S, Marcos I, Sanchez J, Madruga M, Antiñolo G.
    Brain Dev; 2011 Aug 05; 33(7):608-11. PubMed ID: 20970936
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  • 14. [Clinical and molecular genetic findings in four girls with Rett syndrome].
    Deutscher K, Deutscher J, Bergmann L, Tefs K, Reichwald K, Schuster V.
    Klin Padiatr; 2002 Aug 05; 214(5):291-4. PubMed ID: 12235545
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  • 16. Coinheritance of mutated SMN1 and MECP2 genes in a child with phenotypic features of spinal muscular atrophy (SMA) type II and Rett syndrome.
    Voutoufianakis S, Psoni S, Vorgia P, Tsekoura F, Kekou K, Traeger-Synodinos J, Kitsiou S, Kanavakis E, Fryssira H.
    Eur J Paediatr Neurol; 2007 Jul 05; 11(4):235-9. PubMed ID: 17276711
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  • 19. 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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