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Journal Abstract Search

166 related items for PubMed ID: 12673788

  • 1.
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  • 2. Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation.
    Yamada Y, Miura K, Kumagai T, Hayakawa C, Miyazaki S, Matsumoto A, Kurosawa K, Nomura N, Taniguchi H, Sonta SI, Yamanaka T, Wakamatsu N.
    Hum Mutat; 2001 Sep; 18(3):253. PubMed ID: 11524741
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  • 4. 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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  • 5. [Developmental disorder in girls due to Rett syndrome].
    Pruissen DM, Sinke RJ, Terhal PA, Beemer FA, Peters AC.
    Ned Tijdschr Geneeskd; 2003 Aug 09; 147(32):1560-3. PubMed ID: 12942847
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  • 7. 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 09; 116(6):413-9. PubMed ID: 17986102
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  • 9. Rett syndrome: from the gene to the disease.
    Matijevic T, Knezevic J, Slavica M, Pavelic J.
    Eur Neurol; 2009 Dec 09; 61(1):3-10. PubMed ID: 18948693
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  • 10. Rett syndrome: a prototypical neurodevelopmental disorder.
    Neul JL, Zoghbi HY.
    Neuroscientist; 2004 Apr 09; 10(2):118-28. PubMed ID: 15070486
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  • 12. 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 09; 20(4):249-52. PubMed ID: 12325019
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  • 13. Indication for genetic testing: a checklist for Rett syndrome.
    Huppke P, Köhler K, Laccone F, Hanefeld F.
    J Pediatr; 2003 Mar 09; 142(3):332-5. PubMed ID: 12640384
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  • 14. Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls.
    Evans JC, Archer HL, Whatley SD, Kerr A, Clarke A, Butler R.
    Eur J Hum Genet; 2005 Jan 09; 13(1):124-6. PubMed ID: 15367913
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  • 15. Classic Rett syndrome in a boy with R133C mutation of MECP2.
    Masuyama T, Matsuo M, Jing JJ, Tabara Y, Kitsuki K, Yamagata H, Kan Y, Miki T, Ishii K, Kondo I.
    Brain Dev; 2005 Sep 09; 27(6):439-42. PubMed ID: 16122633
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  • 16. MeCP2 in neurons: closing in on the causes of Rett syndrome.
    Caballero IM, Hendrich B.
    Hum Mol Genet; 2005 Apr 15; 14 Spec No 1():R19-26. PubMed ID: 15809268
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  • 17. Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome.
    Moretti P, Bouwknecht JA, Teague R, Paylor R, Zoghbi HY.
    Hum Mol Genet; 2005 Jan 15; 14(2):205-20. PubMed ID: 15548546
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  • 18. Rett syndrome: North American database.
    Percy AK, Lane JB, Childers J, Skinner S, Annese F, Barrish J, Caeg E, Glaze DG, MacLeod P.
    J Child Neurol; 2007 Dec 15; 22(12):1338-41. PubMed ID: 18174548
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  • 19. Association by guilt: identification of DLX5 as a target for MeCP2 provides a molecular link between genomic imprinting and Rett syndrome.
    Bapat S, Galande S.
    Bioessays; 2005 Jul 15; 27(7):676-80. PubMed ID: 15954098
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  • 20. Genotype and early development in Rett syndrome: the value of international data.
    Leonard H, Moore H, Carey M, Fyfe S, Hall S, Robertson L, Wu XR, Bao X, Pan H, Christodoulou J, Williamson S, Klerk Nd.
    Brain Dev; 2005 Nov 15; 27 Suppl 1():S59-S68. PubMed ID: 16182492
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