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Journal Abstract Search

341 related items for PubMed ID: 20035514

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  • 2. Chromosome Xq28 duplication encompassing MECP2: Clinical and molecular analysis of 16 new patients from 10 families in China.
    Yi Z, Pan H, Li L, Wu H, Wang S, Ma Y, Qi Y.
    Eur J Med Genet; 2016 Jun; 59(6-7):347-53. PubMed ID: 27180140
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  • 3. 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; 6(1):42-50. PubMed ID: 23169761
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  • 7. Molecular characterization of Spanish patients with MECP2 duplication syndrome.
    Pascual-Alonso A, Blasco L, Vidal S, Gean E, Rubio P, O'Callaghan M, Martínez-Monseny AF, Castells AA, Xiol C, Català V, Brandi N, Pacheco P, Ros C, Del Campo M, Guillén E, Ibañez S, Sánchez MJ, Lapunzina P, Nevado J, Santos F, Lloveras E, Ortigoza-Escobar JD, Tejada MI, Maortua H, Martínez F, Orellana C, Roselló M, Mesas MA, Obón M, Plaja A, Fernández-Ramos JA, Tizzano E, Marín R, Peña-Segura JL, Alcántara S, Armstrong J.
    Clin Genet; 2020 Apr; 97(4):610-620. PubMed ID: 32043567
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  • 9. 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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  • 11. MECP2 promoter methylation and X chromosome inactivation in autism.
    Nagarajan RP, Patzel KA, Martin M, Yasui DH, Swanberg SE, Hertz-Picciotto I, Hansen RL, Van de Water J, Pessah IN, Jiang R, Robinson WP, LaSalle JM.
    Autism Res; 2008 Jun 10; 1(3):169-78. PubMed ID: 19132145
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  • 14. MECP2 duplication: possible cause of severe phenotype in females.
    Scott Schwoerer J, Laffin J, Haun J, Raca G, Friez MJ, Giampietro PF.
    Am J Med Genet A; 2014 Apr 10; 164A(4):1029-34. PubMed ID: 24458799
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  • 15. 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 10; 133(11):1359-67. PubMed ID: 25037250
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  • 16. Analysis of MECP2 gene copy number in boys with autism.
    Xi CY, Lu Y, Tan YH, Hua TY, Zhao YJ, Liu XM, Gao H.
    J Child Neurol; 2011 May 10; 26(5):570-3. PubMed ID: 21531908
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  • 17. Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
    El Chehadeh S, Touraine R, Prieur F, Reardon W, Bienvenu T, Chantot-Bastaraud S, Doco-Fenzy M, Landais E, Philippe C, Marle N, Callier P, Mosca-Boidron AL, Mugneret F, Le Meur N, Goldenberg A, Guerrot AM, Chambon P, Satre V, Coutton C, Jouk PS, Devillard F, Dieterich K, Afenjar A, Burglen L, Moutard ML, Addor MC, Lebon S, Martinet D, Alessandri JL, Doray B, Miguet M, Devys D, Saugier-Veber P, Drunat S, Aral B, Kremer V, Rondeau S, Tabet AC, Thevenon J, Thauvin-Robinet C, Perreton N, Des Portes V, Faivre L.
    Clin Genet; 2017 Apr 10; 91(4):576-588. PubMed ID: 27761913
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  • 20. De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation.
    Grasshoff U, Bonin M, Goehring I, Ekici A, Dufke A, Cremer K, Wagner N, Rossier E, Jauch A, Walter M, Bauer C, Bauer P, Horber K, Beck-Woedl S, Wieczorek D.
    Eur J Hum Genet; 2011 May 10; 19(5):507-12. PubMed ID: 21326285
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