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Journal Abstract Search

156 related items for PubMed ID: 19764021

  • 1. Partial ATRX gene duplication causes ATR-X syndrome.
    Cohn DM, Pagon RA, Hudgins L, Schwartz CE, Stevenson RE, Friez MJ.
    Am J Med Genet A; 2009 Oct; 149A(10):2317-20. PubMed ID: 19764021
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  • 3. Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.
    Ji J, Quindipan C, Parham D, Shen L, Ruble D, Bootwalla M, Maglinte DT, Gai X, Saitta SC, Biegel JA, Mascarenhas L.
    Am J Med Genet A; 2017 May; 173(5):1390-1395. PubMed ID: 28371217
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  • 4. Co-inheritance of novel ATRX gene mutation and globin (α & β) gene mutations in transfusion dependent beta-thalassemia patients.
    Al-Nafie AN, Borgio JF, AbdulAzeez S, Al-Suliman AM, Qaw FS, Naserullah ZA, Al-Jarrash S, Al-Madan MS, Al-Ali RA, AlKhalifah MA, Al-Muhanna F, Steinberg MH, Al-Ali AK.
    Blood Cells Mol Dis; 2015 Jun; 55(1):27-9. PubMed ID: 25976463
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  • 6. [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; 12(9):1372-5. PubMed ID: 16125058
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  • 8. Mutations in the chromatin-associated protein ATRX.
    Gibbons RJ, Wada T, Fisher CA, Malik N, Mitson MJ, Steensma DP, Fryer A, Goudie DR, Krantz ID, Traeger-Synodinos J.
    Hum Mutat; 2008 Jun; 29(6):796-802. PubMed ID: 18409179
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  • 9. [X-linked alpha-thalassemia/mental retardation syndrome].
    Wada T.
    Rinsho Byori; 2009 Apr; 57(4):382-90. PubMed ID: 19489441
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  • 14. ATRX and the replication of structured DNA.
    Clynes D, Gibbons RJ.
    Curr Opin Genet Dev; 2013 Jun; 23(3):289-94. PubMed ID: 23453691
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  • 15. Does ATRX germline variation predispose to osteosarcoma? Three additional cases of osteosarcoma in two ATR-X syndrome patients.
    Masliah-Planchon J, Lévy D, Héron D, Giuliano F, Badens C, Fréneaux P, Galmiche L, Guinebretierre JM, Cellier C, Waterfall JJ, Aït-Raïs K, Pierron G, Glorion C, Desguerre I, Soler C, Deville A, Delattre O, Michon J, Bourdeaut F.
    Eur J Hum Genet; 2018 Aug; 26(8):1217-1221. PubMed ID: 29706636
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  • 17. A case report of two brothers with ATR-X syndrome due to low maternal frequency of somatic mosaicism for an intragenic deletion in the ATRX.
    Shimbo H, Ninomiya S, Kurosawa K, Wada T.
    J Hum Genet; 2014 Jul; 59(7):408-10. PubMed ID: 24898829
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  • 18. Gastrointestinal phenotype of ATR-X syndrome.
    Martucciello G, Lombardi L, Savasta S, Gibbons RJ.
    Am J Med Genet A; 2006 Jun 01; 140(11):1172-6. PubMed ID: 16688741
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  • 19. Neuroradiologic features in X-linked α-thalassemia/mental retardation syndrome.
    Wada T, Ban H, Matsufuji M, Okamoto N, Enomoto K, Kurosawa K, Aida N.
    AJNR Am J Neuroradiol; 2013 Oct 01; 34(10):2034-8. PubMed ID: 23681356
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  • 20. 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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