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Journal Abstract Search

114 related items for PubMed ID: 21418194

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  • 4. Duplication Xp11.22-p14 in females: does X-inactivation help in assessing their significance?
    Evers C, Mitter D, Strobl-Wildemann G, Haug U, Hackmann K, Maas B, Janssen JW, Jauch A, Hinderhofer K, Moog U.
    Am J Med Genet A; 2015 Mar; 167A(3):553-62. PubMed ID: 25691408
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  • 8. A novel X-linked disorder with developmental delay and autistic features.
    Kaya N, Colak D, Albakheet A, Al-Owain M, Abu-Dheim N, Al-Younes B, Al-Zahrani J, Mukaddes NM, Dervent A, Al-Dosari N, Al-Odaib A, Kayaalp IV, Al-Sayed M, Al-Hassnan Z, Nester MJ, Al-Dosari M, Al-Dhalaan H, Chedrawi A, Gunoz H, Karakas B, Sakati N, Alkuraya FS, Gascon GG, Ozand PT.
    Ann Neurol; 2012 Apr; 71(4):498-508. PubMed ID: 22213401
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  • 9. Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?
    Li F, Shen Y, Köhler U, Sharkey FH, Menon D, Coulleaux L, Malan V, Rio M, McMullan DJ, Cox H, Fagan KA, Gaunt L, Metcalfe K, Heinrich U, Hislop G, Maye U, Sutcliffe M, Wu BL, Thiel BD, Mulchandani S, Conlin LK, Spinner NB, Murphy KM, Batista DA.
    Eur J Med Genet; 2010 Apr; 53(2):93-9. PubMed ID: 20132918
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  • 13. 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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  • 15. A cryptic duplication 22q13.31 to qter leads to a distinct phenotype with mental retardation, microcephaly and mild facial dysmorphism.
    Peeters H, Vermeesch J, Fryns JP.
    Genet Couns; 2008 Sep 01; 19(4):365-71. PubMed ID: 19239079
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  • 18. Phenotype in X chromosome rearrangements: pitfalls of X inactivation study.
    Schluth C, Cossée M, Girard-Lemaire F, Carelle N, Dollfus H, Jeandidier E, Flori E.
    Pathol Biol (Paris); 2007 Feb 01; 55(1):29-36. PubMed ID: 16690229
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  • 20. Unusual X-chromosome inactivation pattern in patients with Xp11.23-p11.22 duplication: Report and review.
    Di-Battista A, Meloni VA, da Silva MD, Moysés-Oliveira M, Melaragno MI.
    Am J Med Genet A; 2016 Dec 01; 170(12):3271-3275. PubMed ID: 27605428
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