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Journal Abstract Search

644 related items for PubMed ID: 15866439

  • 21. 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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  • 24. Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.
    Miltenberger-Miltenyi G, Laccone F.
    Hum Mutat; 2003 Aug; 22(2):107-15. PubMed ID: 12872250
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  • 26. [Rett's syndrome. Clinical features and advances in genetics].
    Temudo T, Maciel P.
    Rev Neurol; 2002 Feb; 34 Suppl 1():S54-8. PubMed ID: 12447790
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  • 27. [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 Feb; 214(5):291-4. PubMed ID: 12235545
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  • 28. Histone modifications in Rett syndrome lymphocytes: a preliminary evaluation.
    Kaufmann WE, Jarrar MH, Wang JS, Lee YJ, Reddy S, Bibat G, Naidu S.
    Brain Dev; 2005 Aug; 27(5):331-9. PubMed ID: 16023547
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  • 29. No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients.
    Vourc'h P, Bienvenu T, Beldjord C, Chelly J, Barthélémy C, Müh JP, Andres C.
    Eur J Hum Genet; 2001 Jul; 9(7):556-8. PubMed ID: 11464249
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  • 30. 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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  • 31. [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; 19(4):276-80. PubMed ID: 12170461
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  • 32. MECP2 and beyond: phenotype-genotype correlations in Rett syndrome.
    Christodoulou J, Weaving LS.
    J Child Neurol; 2003 Oct; 18(10):669-74. PubMed ID: 14649547
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  • 34. Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy.
    Bienvenu T, Souville I, Poirier K, Aquaviva C, Burglen L, Amiel J, Héron B, Kaminska A, Couvert P, Beldjord C, Chelly J.
    Hum Mutat; 2001 Sep; 18(3):251-2. PubMed ID: 11524737
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  • 35. Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?
    Winnepenninckx B, Errijgers V, Hayez-Delatte F, Reyniers E, Frank Kooy R.
    Hum Mutat; 2002 Oct; 20(4):249-52. PubMed ID: 12325019
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  • 36. Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions.
    Laccone F, Huppke P, Hanefeld F, Meins M.
    Hum Mutat; 2001 Mar; 17(3):183-90. PubMed ID: 11241840
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  • 38. MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression.
    Makedonski K, Abuhatzira L, Kaufman Y, Razin A, Shemer R.
    Hum Mol Genet; 2005 Apr 15; 14(8):1049-58. PubMed ID: 15757975
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  • 39. 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 15; 22(2):116-20. PubMed ID: 12872251
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  • 40. DNA methylation and Rett syndrome.
    Kriaucionis S, Bird A.
    Hum Mol Genet; 2003 Oct 15; 12 Spec No 2():R221-7. PubMed ID: 12928486
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