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Journal Abstract Search

249 related items for PubMed ID: 21934280

  • 21.
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  • 22. Rett syndrome: from the gene to the disease.
    Matijevic T, Knezevic J, Slavica M, Pavelic J.
    Eur Neurol; 2009; 61(1):3-10. PubMed ID: 18948693
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  • 23. Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation.
    Honda S, Satomura S, Hayashi S, Imoto I, Nakagawa E, Goto Y, Inazawa J, Japanese Mental Retardation Consortium.
    J Hum Genet; 2012 Jan; 57(1):73-7. PubMed ID: 22129561
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  • 27. 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; 33(7):608-11. PubMed ID: 20970936
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  • 28. [Rett syndrome: clinical and molecular aspects].
    Záhoráková D, Zeman J, Martásek P.
    Cas Lek Cesk; 2007 Aug; 146(8):647-52. PubMed ID: 17874730
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  • 31. Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome.
    Kim SJ, Cook EH.
    Hum Mutat; 2000 Apr; 15(4):382-3. PubMed ID: 10737989
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  • 33. Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28.
    Reardon W, Donoghue V, Murphy AM, King MD, Mayne PD, Horn N, Birk Møller L.
    Eur J Pediatr; 2010 Aug; 169(8):941-9. PubMed ID: 20177701
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  • 35. 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; 23(1):22-5. PubMed ID: 18184939
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  • 38. Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation.
    Lesca G, Bernard V, Bozon M, Touraine R, Gérard D, Edery P, Calender A.
    Eur J Med Genet; 2007 Jan; 50(3):200-8. PubMed ID: 17383248
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  • 39. Algorithmic approach for methyl-CpG binding protein 2 (MECP2) gene testing in patients with neurodevelopmental disabilities.
    Sanmann JN, Schaefer GB, Buehler BA, Sanger WG.
    J Child Neurol; 2012 Mar; 27(3):346-54. PubMed ID: 22123427
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  • 40. 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; 116(6):413-9. PubMed ID: 17986102
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