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Journal Abstract Search

249 related items for PubMed ID: 21934280

  • 1. De novo interstitial triplication of MECP2 in a girl with neurodevelopmental disorder and random X chromosome inactivation.
    Mayo S, Monfort S, Roselló M, Orellana C, Oltra S, Armstrong J, Català V, Martínez F.
    Cytogenet Genome Res; 2011; 135(2):93-101. PubMed ID: 21934280
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  • 2. De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features.
    Makrythanasis P, Moix I, Gimelli S, Fluss J, Aliferis K, Antonarakis SE, Morris MA, Béna F, Bottani A.
    Clin Genet; 2010 Aug; 78(2):175-80. PubMed ID: 20236124
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  • 3. 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; 118(6):e1687-95. PubMed ID: 17088400
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  • 4. MECP2 duplication syndrome in both genders.
    Shimada S, Okamoto N, Ito M, Arai Y, Momosaki K, Togawa M, Maegaki Y, Sugawara M, Shimojima K, Osawa M, Yamamoto T.
    Brain Dev; 2013 May; 35(5):411-9. PubMed ID: 22877836
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  • 5. Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype.
    Hoffbuhr KC, Moses LM, Jerdonek MA, Naidu S, Hoffman EP.
    Ment Retard Dev Disabil Res Rev; 2002 May; 8(2):99-105. PubMed ID: 12112735
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  • 8. [Advance in research on MECP2 [corrected] duplication syndrome].
    Zhang Q, Bao X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Jun; 32(3):426-9. PubMed ID: 26037367
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  • 10. 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; 164A(4):1029-34. PubMed ID: 24458799
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  • 11. MECP2 triplication in 3 brothers - a rarely described cause of familial neurological regression in boys.
    Tang SS, Fernandez D, Lazarou LP, Singh R, Fallon P.
    Eur J Paediatr Neurol; 2012 Mar; 16(2):209-12. PubMed ID: 21821449
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  • 12. Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome.
    Takahashi S, Ohinata J, Makita Y, Suzuki N, Araki A, Sasaki A, Murono K, Tanaka H, Fujieda K.
    Clin Genet; 2008 Mar; 73(3):257-61. PubMed ID: 18190595
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  • 13. Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family.
    Li X, Xie H, Chen Q, Yu X, Yi Z, Li E, Zhang T, Wang J, Zhong J, Chen X.
    BMC Med Genet; 2017 Nov 15; 18(1):131. PubMed ID: 29141583
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  • 14. 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 15; 19(5):507-12. PubMed ID: 21326285
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  • 17. Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome.
    Meins M, Lehmann J, Gerresheim F, Herchenbach J, Hagedorn M, Hameister K, Epplen JT.
    J Med Genet; 2005 Feb 15; 42(2):e12. PubMed ID: 15689435
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  • 18. Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome.
    Abdala BB, Gonçalves AP, Dos Santos JM, Boy R, de Carvalho CMB, Grochowski CM, Krepischi ACV, Rosenberg C, Gusmão L, Pehlivan D, Pimentel MMG, Santos-Rebouças CB.
    Eur J Med Genet; 2021 Dec 15; 64(12):104367. PubMed ID: 34678473
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