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Journal Abstract Search

283 related items for PubMed ID: 18409179

  • 21. [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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  • 22. 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
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  • 23. 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 01; 173(5):1390-1395. PubMed ID: 28371217
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  • 29. 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 01; 87(5):461-6. PubMed ID: 24805811
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  • 30. A novel splicing mutation of the ATRX gene in ATR-X syndrome.
    Wada T, Sakakibara M, Fukushima Y, Saitoh S.
    Brain Dev; 2006 Jun 01; 28(5):322-5. PubMed ID: 16376512
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  • 32. A novel missense mutation in ATRX uncovered in a Yemeni family leads to alpha-thalassemia/mental retardation syndrome without alpha-thalassemia.
    Hamzeh AR, Nair P, Mohamed M, Saif F, Tawfiq N, Al-Ali MT, Bastaki F.
    Ir J Med Sci; 2017 May 01; 186(2):333-337. PubMed ID: 26860117
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  • 33. A novel mutation in the last exon of ATRX in a patient with alpha-thalassemia myelodysplastic syndrome.
    Costa DB, Fisher CA, Miller KB, Pihan GA, Steensma DP, Gibbons RJ, Higgs DR.
    Eur J Haematol; 2006 May 01; 76(5):432-5, 453. PubMed ID: 16480427
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  • 35. A Novel ATRX Mutation Presenting with Intellectual Disability and Severe Kyphoscoliosis.
    Altıner Ş, Raymond L.
    Fetal Pediatr Pathol; 2020 Dec 01; 39(6):539-543. PubMed ID: 31608750
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  • 36. 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 Dec 01; 36(6):581-5. PubMed ID: 23092150
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  • 40. Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX gene.
    Martínez F, Roselló M, Mayo S, Monfort S, Oltra S, Orellana C.
    Am J Med Genet A; 2014 Apr 01; 164A(4):918-23. PubMed ID: 24458433
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