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Journal Abstract Search

155 related items for PubMed ID: 20861843

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  • 4. 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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  • 7. 335.4 kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features.
    Alesi V, Bertoli M, Barrano G, Torres B, Pusceddu S, Pastorino M, Perria C, Nardone AM, Novelli A, Serra G.
    Gene; 2012 Sep 01; 505(2):384-7. PubMed ID: 22634100
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  • 9. A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation.
    Hyon C, Marlin S, Chantot-Bastaraud S, Mabboux P, Beaujard MP, Al Ageeli E, Vazquez MP, Picard A, Siffroi JP, Portnoï MF.
    Eur J Med Genet; 2011 Sep 01; 54(3):287-91. PubMed ID: 21195811
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  • 10. Microduplication of Xp11.23p11.3 with effects on cognition, behavior, and craniofacial development.
    El-Hattab AW, Bournat J, Eng PA, Wu JB, Walker BA, Stankiewicz P, Cheung SW, Brown CW.
    Clin Genet; 2011 Jun 01; 79(6):531-8. PubMed ID: 20662849
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  • 11. Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
    Lugtenberg D, Kleefstra T, Oudakker AR, Nillesen WM, Yntema HG, Tzschach A, Raynaud M, Rating D, Journel H, Chelly J, Goizet C, Lacombe D, Pedespan JM, Echenne B, Tariverdian G, O'Rourke D, King MD, Green A, van Kogelenberg M, Van Esch H, Gecz J, Hamel BC, van Bokhoven H, de Brouwer AP.
    Eur J Hum Genet; 2009 Apr 01; 17(4):444-53. PubMed ID: 18985075
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  • 16. De novo duplication of Xq22.1→q24 with a disruption of the NXF gene cluster in a mentally retarded woman with short stature and premature ovarian failure.
    Chen CP, Su YN, Lin HH, Chern SR, Tsai FJ, Wu PC, Lee CC, Chen YT, Wang W.
    Taiwan J Obstet Gynecol; 2011 Sep 01; 50(3):339-44. PubMed ID: 22030050
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  • 17. Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis.
    Honda S, Hayashi S, Imoto I, Toyama J, Okazawa H, Nakagawa E, Goto Y, Inazawa J.
    J Hum Genet; 2010 Sep 01; 55(9):590-9. PubMed ID: 20613765
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  • 18. Xq12q13.1 microduplication encompassing the EFNB1 gene in a boy with congenital diaphragmatic hernia.
    Petit F, Andrieux J, Holder-Espinasse M, Bouquillon S, Pennaforte T, Storme L, Manouvrier-Hanu S.
    Eur J Med Genet; 2011 Sep 01; 54(5):e525-7. PubMed ID: 21782985
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  • 19. Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization.
    Bonnet C, Grégoire MJ, Brochet K, Raffo E, Leheup B, Jonveaux P.
    J Hum Genet; 2006 Sep 01; 51(9):815. PubMed ID: 16900295
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  • 20. Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance.
    Philippe A, Malan V, Jacquemont ML, Boddaert N, Bonnefont JP, Odent S, Munnich A, Colleaux L, Cormier-Daire V.
    Am J Med Genet A; 2013 Jun 01; 161A(6):1370-5. PubMed ID: 23637084
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