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Journal Abstract Search

164 related items for PubMed ID: 24289169

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  • 2. Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation.
    Lee JS, Lee S, Lim BC, Kim KJ, Hwang YS, Choi M, Chae JH.
    Gene; 2015 Sep 15; 569(2):318-22. PubMed ID: 25936994
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  • 6. Partial duplications of the ATRX gene cause the ATR-X syndrome.
    Thienpont B, de Ravel T, Van Esch H, Van Schoubroeck D, Moerman P, Vermeesch JR, Fryns JP, Froyen G, Lacoste C, Badens C, Devriendt K.
    Eur J Hum Genet; 2007 Oct 15; 15(10):1094-7. PubMed ID: 17579672
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  • 7. [ATR-X syndrome: a new mutation in the XNP/ATRX gene near the helicase domain].
    Giuliano F, Badens C, Richelme C, Levy N, Lambert JC.
    Arch Pediatr; 2005 Sep 15; 12(9):1372-5. PubMed ID: 16125058
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  • 8. Functional significance of mutations in the Snf2 domain of ATRX.
    Mitson M, Kelley LA, Sternberg MJ, Higgs DR, Gibbons RJ.
    Hum Mol Genet; 2011 Jul 01; 20(13):2603-10. PubMed ID: 21505078
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  • 10. Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase.
    Villard L, Lossi AM, Cardoso C, Proud V, Chiaroni P, Colleaux L, Schwartz C, Fontés M.
    Genomics; 1997 Jul 15; 43(2):149-55. PubMed ID: 9244431
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  • 11. A new detection method for ATRX gene mutations using a mismatch-specific endonuclease.
    Wada T, Fukushima Y, Saitoh S.
    Am J Med Genet A; 2006 Jul 15; 140(14):1519-23. PubMed ID: 16763962
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  • 17. Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).
    Basehore MJ, Michaelson-Cohen R, Levy-Lahad E, Sismani C, Bird LM, Friez MJ, Walsh T, Abidi F, Holloway L, Skinner C, McGee S, Alexandrou A, Syrrou M, Patsalis PC, Raymond G, Wang T, Schwartz CE, King MC, Stevenson RE.
    Clin Genet; 2015 May 15; 87(5):461-6. PubMed ID: 24805811
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  • 18. A new ATRX mutation in a patient with acquired α-thalassemia myelodysplastic syndrome.
    Herbaux C, Badens C, Guidez S, Lacoste C, Maboudou P, Rose C.
    Hemoglobin; 2012 May 15; 36(6):581-5. PubMed ID: 23092150
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  • 19. Molecular genetic study of japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).
    Wada T, Kubota T, Fukushima Y, Saitoh S.
    Am J Med Genet; 2000 Sep 18; 94(3):242-8. PubMed ID: 10995512
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