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Journal Abstract Search

283 related items for PubMed ID: 18409179

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. [X-linked alpha-thalassemia/mental retardation syndrome].
    Wada T.
    Rinsho Byori; 2009 Apr; 57(4):382-90. PubMed ID: 19489441
    [Abstract] [Full Text] [Related]

  • 3. Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome.
    Lacoste C, Leheup B, Agouti I, Mowat D, Giuliano F, Badens C.
    Clin Genet; 2014 Nov; 86(5):502-3. PubMed ID: 24289169
    [No Abstract] [Full Text] [Related]

  • 4. Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations.
    Steensma DP, Higgs DR, Fisher CA, Gibbons RJ.
    Blood; 2004 Mar 15; 103(6):2019-26. PubMed ID: 14592816
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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 01; 55(1):27-9. PubMed ID: 25976463
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. Defective survival of proliferating Sertoli cells and androgen receptor function in a mouse model of the ATR-X syndrome.
    Bagheri-Fam S, Argentaro A, Svingen T, Combes AN, Sinclair AH, Koopman P, Harley VR.
    Hum Mol Genet; 2011 Jun 01; 20(11):2213-24. PubMed ID: 21427128
    [Abstract] [Full Text] [Related]

  • 10. ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.
    Badens C, Martini N, Courrier S, DesPortes V, Touraine R, Levy N, Edery P.
    Am J Med Genet A; 2006 Oct 15; 140(20):2212-5. PubMed ID: 16955409
    [Abstract] [Full Text] [Related]

  • 11. α-Thalassemia, mental retardation, and myelodysplastic syndrome.
    Gibbons RJ.
    Cold Spring Harb Perspect Med; 2012 Oct 01; 2(10):. PubMed ID: 23028133
    [Abstract] [Full Text] [Related]

  • 12. ATRX and the replication of structured DNA.
    Clynes D, Gibbons RJ.
    Curr Opin Genet Dev; 2013 Jun 01; 23(3):289-94. PubMed ID: 23453691
    [Abstract] [Full Text] [Related]

  • 13. ATRX interacts with H3.3 in maintaining telomere structural integrity in pluripotent embryonic stem cells.
    Wong LH, McGhie JD, Sim M, Anderson MA, Ahn S, Hannan RD, George AJ, Morgan KA, Mann JR, Choo KH.
    Genome Res; 2010 Mar 01; 20(3):351-60. PubMed ID: 20110566
    [Abstract] [Full Text] [Related]

  • 14. 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 01; 15(10):1094-7. PubMed ID: 17579672
    [Abstract] [Full Text] [Related]

  • 15. ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31).
    Thakur S, Ishrie M, Saxena R, Danda S, Linda R, Viswabandya A, Verma IC.
    Indian J Med Res; 2011 Oct 01; 134(4):483-6. PubMed ID: 22089611
    [Abstract] [Full Text] [Related]

  • 16. [Mutation analysis for a Chinese family featuring X-linked alpha thalassemia/mental retardation syndrome].
    Lin SB, Sun HY, Song XM, Chen LM, Du ML, Chen Z.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Dec 01; 30(6):654-8. PubMed ID: 24327140
    [Abstract] [Full Text] [Related]

  • 17. Alpha thalassaemia-mental retardation, X linked.
    Gibbons R.
    Orphanet J Rare Dis; 2006 May 04; 1():15. PubMed ID: 16722615
    [Abstract] [Full Text] [Related]

  • 18. Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.
    Bouazzi H, Thakur S, Trujillo C, Alwasiyah MK, Munnich A.
    Indian J Med Res; 2016 Jan 04; 143(1):43-8. PubMed ID: 26997013
    [Abstract] [Full Text] [Related]

  • 19. 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 04; 149A(10):2317-20. PubMed ID: 19764021
    [No Abstract] [Full Text] [Related]

  • 20. Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.
    Badens C, Lacoste C, Philip N, Martini N, Courrier S, Giuliano F, Verloes A, Munnich A, Leheup B, Burglen L, Odent S, Van Esch H, Levy N.
    Clin Genet; 2006 Jul 04; 70(1):57-62. PubMed ID: 16813605
    [Abstract] [Full Text] [Related]

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