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Journal Abstract Search

238 related items for PubMed ID: 26860117

  • 1. 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; 186(2):333-337. PubMed ID: 26860117
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  • 6. Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X.
    Wada T, Sugie H, Fukushima Y, Saitoh S.
    Am J Med Genet A; 2005 Sep 15; 138(1):18-20. PubMed ID: 16100724
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  • 9. Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.
    Giorgio E, Brussino A, Biamino E, Belligni EF, Bruselles A, Ciolfi A, Caputo V, Pizzi S, Calcia A, Di Gregorio E, Cavalieri S, Mancini C, Pozzi E, Ferrero M, Riberi E, Borelli I, Amoroso A, Ferrero GB, Tartaglia M, Brusco A.
    Eur J Paediatr Neurol; 2017 May 15; 21(3):475-484. PubMed ID: 28027854
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  • 17. [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 15; 30(6):654-8. PubMed ID: 24327140
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  • 18. [Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues].
    Szczałuba K, Obersztyn E, Nowakowska B, Bernaciak J, Fisher C, Gibbons R, Mazurczak T, Bocian E.
    Med Wieku Rozwoj; 2011 Dec 15; 15(4):437-44. PubMed ID: 22516698
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  • 19. Retinal interneuron survival requires non-cell-autonomous Atrx activity.
    Lagali PS, Medina CF, Zhao BY, Yan K, Baker AN, Coupland SG, Tsilfidis C, Wallace VA, Picketts DJ.
    Hum Mol Genet; 2016 Nov 01; 25(21):4787-4803. PubMed ID: 28173139
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