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197 related items for PubMed ID: 38881329

  • 1. An Irak1-Mecp2 tandem duplication mouse model for the study of MECP2 duplication syndrome.
    Maino E, Scott O, Rizvi SZ, Chan WS, Visuvanathan S, Zablah YB, Li H, Sengar AS, Salter MW, Jia Z, Rossant J, Cohn RD, Gu B, Ivakine EA.
    Dis Model Mech; 2024 Jul 01; 17(7):. PubMed ID: 38881329
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  • 2. MECP2 duplication syndrome in a patient from Cameroon.
    Tekendo-Ngongang C, Dahoun S, Nguefack S, Moix I, Gimelli S, Zambo H, Morris MA, Sloan-Béna F, Wonkam A.
    Am J Med Genet A; 2020 Apr 01; 182(4):619-622. PubMed ID: 32052928
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  • 3. 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 01; 97(4):610-620. PubMed ID: 32043567
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  • 7. Multi-gene duplication removal in an engineered human cellular MECP2 duplication syndrome model with an IRAK1-MECP2 duplication.
    Rizvi SZ, Chan WS, Maino E, Steiman S, Forguson G, Klepfish M, Cohn RD, Ivakine EA.
    Mol Ther Nucleic Acids; 2024 Dec 10; 35(4):102356. PubMed ID: 39507402
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  • 8. 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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  • 9. MECP2 and the biology of MECP2 duplication syndrome.
    D'Mello SR.
    J Neurochem; 2021 Oct 03; 159(1):29-60. PubMed ID: 33638179
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  • 10. Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels.
    Bajikar SS, Sztainberg Y, Trostle AJ, Tirumala HP, Wan YW, Harrop CL, Bengtsson JD, Carvalho CMB, Pehlivan D, Suter B, Neul JL, Liu Z, Jafar-Nejad P, Rigo F, Zoghbi HY.
    Hum Mol Genet; 2024 Nov 08; 33(22):1986-2001. PubMed ID: 39277796
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  • 11. A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes.
    Yon DK, Park JE, Kim SJ, Shim SH, Chae KY.
    BMC Med Genet; 2017 Mar 17; 18(1):30. PubMed ID: 28302064
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  • 12. MECP2 duplication syndrome in a Chinese family.
    Zhang Q, Zhao Y, Yang Y, Bao X.
    BMC Med Genet; 2015 Dec 16; 16():112. PubMed ID: 26672597
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  • 14. 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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  • 17. 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. Antisense oligonucleotide therapy in a humanized mouse model of MECP2 duplication syndrome.
    Shao Y, Sztainberg Y, Wang Q, Bajikar SS, Trostle AJ, Wan YW, Jafar-Nejad P, Rigo F, Liu Z, Tang J, Zoghbi HY.
    Sci Transl Med; 2021 Mar 03; 13(583):. PubMed ID: 33658357
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