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Journal Abstract Search

238 related items for PubMed ID: 26860117

  • 21.
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  • 22. [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
    [Abstract] [Full Text] [Related]

  • 23. 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; 87(5):461-6. PubMed ID: 24805811
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  • 24.
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  • 25. 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; 134(4):483-6. PubMed ID: 22089611
    [Abstract] [Full Text] [Related]

  • 26. 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(10):1094-7. PubMed ID: 17579672
    [Abstract] [Full Text] [Related]

  • 27. 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
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  • 28. A case of ATR-X syndrome with mitochondrial respiratory chain dysfunction.
    Aiba K, Nakamura Y, Sugimoto M, Yatsuka Y, Okazaki Y, Murayama K, Ohtake A, Yokochi K, Saitoh S.
    Eur J Med Genet; 2021 Aug 01; 64(8):104251. PubMed ID: 34051360
    [Abstract] [Full Text] [Related]

  • 29. Integrated omics analyses clarifies ATRX copy number variant of uncertain significance.
    Marshall AE, Liang Y, Couse M, McConkey H, Care4Rare Canada Consortium, Sadikovic B, Boycott KM, Dyment DA, Kernohan KD.
    J Hum Genet; 2024 Feb 01; 69(2):101-105. PubMed ID: 37904029
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  • 30. 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]

  • 31. 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 01; 70(1):57-62. PubMed ID: 16813605
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  • 32.
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  • 34. 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
    [Abstract] [Full Text] [Related]

  • 35. A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects.
    Tillotson R, Yan K, Ruston J, DeYoung T, Córdova A, Turcotte-Cardin V, Yee Y, Taylor C, Visuvanathan S, Babbs C, Ivakine EA, Sled JG, Nieman BJ, Picketts DJ, Justice MJ.
    Hum Mol Genet; 2023 Jul 20; 32(15):2485-2501. PubMed ID: 37171606
    [Abstract] [Full Text] [Related]

  • 36. A novel splicing mutation of the ATRX gene in ATR-X syndrome.
    Wada T, Sakakibara M, Fukushima Y, Saitoh S.
    Brain Dev; 2006 Jun 20; 28(5):322-5. PubMed ID: 16376512
    [Abstract] [Full Text] [Related]

  • 37. ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.
    Picketts DJ, Higgs DR, Bachoo S, Blake DJ, Quarrell OW, Gibbons RJ.
    Hum Mol Genet; 1996 Dec 20; 5(12):1899-907. PubMed ID: 8968741
    [Abstract] [Full Text] [Related]

  • 38. ATRX and DAXX: Mechanisms and Mutations.
    Dyer MA, Qadeer ZA, Valle-Garcia D, Bernstein E.
    Cold Spring Harb Perspect Med; 2017 Mar 01; 7(3):. PubMed ID: 28062559
    [Abstract] [Full Text] [Related]

  • 39. Effects of a postnatal Atrx conditional knockout in neurons on autism-like behaviours in male and female mice.
    Martin-Kenny N, Bérubé NG.
    J Neurodev Disord; 2020 Jun 24; 12(1):17. PubMed ID: 32580781
    [Abstract] [Full Text] [Related]

  • 40. Electroencephalographic findings in ATRX syndrome: A new case series and review of literature.
    Aiello S, Mancardi MM, Romano A, Santucci M, Scaduto MC, Vari MS, Striano P, Operto FF, Elia M, Vitiello G, Del Giudice E, Terrone G.
    Eur J Paediatr Neurol; 2022 Sep 24; 40():69-72. PubMed ID: 36031702
    [Abstract] [Full Text] [Related]

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