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Journal Abstract Search

423 related items for PubMed ID: 22842074

  • 21. Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delay.
    Kemeny S, Pebrel-Richard C, Eymard-Pierre E, Gay-Bellile M, Gouas L, Goumy C, Tchirkov A, Francannet C, Vago P.
    Eur J Med Genet; 2014 Oct; 57(10):552-7. PubMed ID: 25106685
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  • 22. Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.
    Mattioli F, Piton A, Gérard B, Superti-Furga A, Mandel JL, Unger S.
    Am J Med Genet A; 2016 Jun; 170(6):1626-9. PubMed ID: 27061120
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  • 24. Array-CGH revealed one of the smallest 16q21q22.1 microdeletions in a female patient with psychomotor retardation.
    Tsoutsou E, Tzetis M, Giannikou K, Syrmou A, Oikonomakis V, Kosma K, Kanioura A, Kanavakis E, Fryssira H.
    Eur J Paediatr Neurol; 2013 May; 17(3):316-20. PubMed ID: 23352671
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  • 27. Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.
    Zollino M, Orteschi D, Murdolo M, Lattante S, Battaglia D, Stefanini C, Mercuri E, Chiurazzi P, Neri G, Marangi G.
    Nat Genet; 2012 Apr 29; 44(6):636-8. PubMed ID: 22544367
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  • 37. Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children.
    Zahir F, Firth HV, Baross A, Delaney AD, Eydoux P, Gibson WT, Langlois S, Martin H, Willatt L, Marra MA, Friedman JM.
    J Med Genet; 2007 Sep 29; 44(9):556-61. PubMed ID: 17545556
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  • 39. A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features.
    Poirsier-Violle C, Abourra A, Baumann C, Perrin L, Capri Y, Mignot C, Passemard S, Drunat S, Verloes A.
    Eur J Med Genet; 2013 Apr 29; 56(4):226-8. PubMed ID: 23337768
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