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Journal Abstract Search

150 related items for PubMed ID: 23704079

  • 21. Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections.
    Smyk M, Obersztyn E, Nowakowska B, Nawara M, Cheung SW, Mazurczak T, Stankiewicz P, Bocian E.
    Am J Med Genet B Neuropsychiatr Genet; 2008 Sep 05; 147B(6):799-806. PubMed ID: 18165974
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  • 22. Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability.
    Andersen EF, Baldwin EE, Ellingwood S, Smith R, Lamb AN.
    Am J Med Genet A; 2014 Jul 05; 164A(7):1795-801. PubMed ID: 24700761
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  • 29. Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28.
    Reardon W, Donoghue V, Murphy AM, King MD, Mayne PD, Horn N, Birk Møller L.
    Eur J Pediatr; 2010 Aug 05; 169(8):941-9. PubMed ID: 20177701
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  • 36. 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 05; 19(5):507-12. PubMed ID: 21326285
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  • 37. 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 05; 77(3):442-53. PubMed ID: 16080119
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  • 40. Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment.
    Hunter M, Bruno D, Amor DJ.
    Am J Med Genet A; 2009 Aug 05; 149A(8):1763-7. PubMed ID: 19610086
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