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Journal Abstract Search

116 related items for PubMed ID: 20500465

  • 1. First case of dizygous twins with X-linked alpha-thalassemia/mental retardation syndrome showing wide clinical variability.
    Pavone P, Taibi R, Lionetti E, Incorpora G, Fisher CA.
    Pediatr Int; 2010 Apr; 52(2):e72-5. PubMed ID: 20500465
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  • 4. 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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  • 7. Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032).
    Villard L, Fontes M.
    Eur J Hum Genet; 2002 Apr 18; 10(4):223-5. PubMed ID: 12032728
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  • 9. Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome.
    Barresi V, Ragusa A, Fichera M, Musso N, Castiglia L, Rappazzo G, Travali S, Mattina T, Romano C, Cocchi G, Condorelli DF.
    BMC Med Genomics; 2010 Jul 06; 3():28. PubMed ID: 20602808
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  • 11. Syndromal mental retardation due to mutations in a regulator of gene expression.
    Gibbons RJ, Picketts DJ, Higgs DR.
    Hum Mol Genet; 1995 Jul 06; 4 Spec No():1705-9. PubMed ID: 8541868
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  • 17. Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).
    Gibbons RJ, Picketts DJ, Villard L, Higgs DR.
    Cell; 1995 Mar 24; 80(6):837-45. PubMed ID: 7697714
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  • 18. A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia.
    Villard L, Lacombe D, Fontés M.
    Eur J Hum Genet; 1996 Mar 24; 4(6):316-20. PubMed ID: 9043863
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  • 19. X linked mental retardation with non-deletional alpha thalassaemia (ATR-X): further delineation of the phenotype.
    Ogle R, DeSouza M, Cunningham C, Kerr B, Sillence D.
    J Med Genet; 1994 Mar 24; 31(3):245-7. PubMed ID: 8014976
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  • 20. 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 24; 186(2):333-337. PubMed ID: 26860117
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