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Journal Abstract Search

159 related items for PubMed ID: 19806472

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  • 6. A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.
    Hanchard NA, Carvalho CM, Bader P, Thome A, Omo-Griffith L, del Gaudio D, Pehlivan D, Fang P, Schaaf CP, Ramocki MB, Lupski JR, Cheung SW.
    BMC Med Genet; 2012 Aug 10; 13():71. PubMed ID: 22883432
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  • 7. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.
    Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gecz J, Moraine C, Marynen P, Fryns JP, Froyen G.
    Am J Hum Genet; 2005 Sep 10; 77(3):442-53. PubMed ID: 16080119
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  • 8. Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.
    Bauters M, Van Esch H, Friez MJ, Boespflug-Tanguy O, Zenker M, Vianna-Morgante AM, Rosenberg C, Ignatius J, Raynaud M, Hollanders K, Govaerts K, Vandenreijt K, Niel F, Blanc P, Stevenson RE, Fryns JP, Marynen P, Schwartz CE, Froyen G.
    Genome Res; 2008 Jun 10; 18(6):847-58. PubMed ID: 18385275
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  • 9. Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides.
    Sztainberg Y, Chen HM, Swann JW, Hao S, Tang B, Wu Z, Tang J, Wan YW, Liu Z, Rigo F, Zoghbi HY.
    Nature; 2015 Dec 03; 528(7580):123-6. PubMed ID: 26605526
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  • 11. Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.
    Friez MJ, Jones JR, Clarkson K, Lubs H, Abuelo D, Bier JA, Pai S, Simensen R, Williams C, Giampietro PF, Schwartz CE, Stevenson RE.
    Pediatrics; 2006 Dec 03; 118(6):e1687-95. PubMed ID: 17088400
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  • 12. De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation.
    Fieremans N, Bauters M, Belet S, Verbeeck J, Jansen AC, Seneca S, Roelens F, De Baere E, Marynen P, Froyen G.
    Hum Genet; 2014 Nov 03; 133(11):1359-67. PubMed ID: 25037250
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  • 15. The behavioral phenotype in MECP2 duplication syndrome: a comparison with idiopathic autism.
    Peters SU, Hundley RJ, Wilson AK, Warren Z, Vehorn A, Carvalho CM, Lupski JR, Ramocki MB.
    Autism Res; 2013 Feb 03; 6(1):42-50. PubMed ID: 23169761
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  • 19. Genetic analysis of a pedigree with MECP2 duplication syndrome in China.
    Zeng L, Zhu H, Wang J, Wang Q, Pang Y, Luo Z, Chen A, Qin S, Zhu S.
    BMC Med Genomics; 2024 Feb 19; 17(1):54. PubMed ID: 38373942
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  • 20. Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.
    El Chehadeh S, Faivre L, Mosca-Boidron AL, Malan V, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Callier P, Lefebvre M, Marle N, Dubourg C, Julia S, Sarret C, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Le Caignec C, Vigneron J, Leheup B, Lambert L, Philippe C, Cuisset JM, Andrieux J, Plessis G, Toutain A, Goldenberg A, Cormier-Daire V, Rio M, Bonnefont JP, Thevenon J, Echenne B, Journel H, Afenjar A, Burglen L, Bienvenu T, Addor MC, Lebon S, Martinet D, Baumann C, Perrin L, Drunat S, Jouk PS, Devillard F, Coutton C, Lacombe D, Delrue MA, Philip N, Moncla A, Badens C, Perreton N, Masurel A, Thauvin-Robinet C, Des Portes V, Guibaud L.
    Am J Med Genet A; 2016 Jan 19; 170A(1):116-29. PubMed ID: 26420639
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