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566 related items for PubMed ID: 25976463

  • 1. 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; 55(1):27-9. PubMed ID: 25976463
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  • 4. First Report on the Coinheritance of α-Thalassemia and a Rare β-Thalassemia Compound Heterozygosity for the IVS-I-I(G>A)/IVS-II-705(T>G) Mutations in a Syrian Family.
    Murad H, Moassas F.
    Hemoglobin; 2019 Jan; 43(1):66-68. PubMed ID: 30843739
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  • 5. A novel HBA2 gene conversion in cis or trans: "α12 allele" in a Saudi population.
    Borgio JF, AbdulAzeez S, Al-Nafie AN, Naserullah ZA, Al-Jarrash S, Al-Madan MS, Al-Muhanna F, Steinberg MH, Al-Ali AK.
    Blood Cells Mol Dis; 2014 Dec; 53(4):199-203. PubMed ID: 25065854
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  • 8. 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
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  • 9. 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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  • 10. 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; 173(5):1390-1395. PubMed ID: 28371217
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  • 11. 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
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  • 14. [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; 30(6):654-8. PubMed ID: 24327140
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  • 15. Molecular mechanisms underlying thalassemia intermedia in Iran.
    Neishabury M, Azarkeivan A, Oberkanins C, Esteghamat F, Amirizadeh N, Najmabadi H.
    Genet Test; 2008 Dec; 12(4):549-56. PubMed ID: 18939939
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  • 16. 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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  • 17. 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 18; 149A(10):2317-20. PubMed ID: 19764021
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  • 19. [X-linked alpha-thalassemia/mental retardation syndrome].
    Wada T.
    Rinsho Byori; 2009 Apr 18; 57(4):382-90. PubMed ID: 19489441
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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 18; 186(2):333-337. PubMed ID: 26860117
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