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297 related items for PubMed ID: 25936994

  • 1. Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation.
    Lee JS, Lee S, Lim BC, Kim KJ, Hwang YS, Choi M, Chae JH.
    Gene; 2015 Sep 15; 569(2):318-22. PubMed ID: 25936994
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  • 2. 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 15; 55(1):27-9. PubMed ID: 25976463
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  • 3. 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 15; 86(5):502-3. PubMed ID: 24289169
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  • 4. The limits of clinical findings in similar phenotypes, from Carpenter to ATRX syndrome using a whole exome sequencing approach: a case review.
    Sáenz SS, Arias B, Hosomichi K, Romero VI.
    Hum Genomics; 2021 Aug 04; 15(1):49. PubMed ID: 34348791
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  • 5. 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 04; 87(5):461-6. PubMed ID: 24805811
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  • 6. 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 04; 34(10):2034-8. PubMed ID: 23681356
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  • 8. Mutations in the chromatin-associated protein ATRX.
    Gibbons RJ, Wada T, Fisher CA, Malik N, Mitson MJ, Steensma DP, Fryer A, Goudie DR, Krantz ID, Traeger-Synodinos J.
    Hum Mutat; 2008 Jun 04; 29(6):796-802. PubMed ID: 18409179
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  • 10. Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.
    Bouazzi H, Thakur S, Trujillo C, Alwasiyah MK, Munnich A.
    Indian J Med Res; 2016 Jan 04; 143(1):43-8. PubMed ID: 26997013
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  • 13. Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome.
    Schenkel LC, Kernohan KD, McBride A, Reina D, Hodge A, Ainsworth PJ, Rodenhiser DI, Pare G, Bérubé NG, Skinner C, Boycott KM, Schwartz C, Sadikovic B.
    Epigenetics Chromatin; 2017 Jan 04; 10():10. PubMed ID: 28293299
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  • 14. 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 04; 173(5):1390-1395. PubMed ID: 28371217
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  • 15. ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.
    Badens C, Martini N, Courrier S, DesPortes V, Touraine R, Levy N, Edery P.
    Am J Med Genet A; 2006 Oct 15; 140(20):2212-5. PubMed ID: 16955409
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  • 19. [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 15; 12(9):1372-5. PubMed ID: 16125058
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  • 20. A novel 5' ATRX mutation with splicing consequences in acquired alpha thalassemia-myelodysplastic syndrome.
    Nelson ME, Thurmes PJ, Hoyer JD, Steensma DP.
    Haematologica; 2005 Nov 15; 90(11):1463-70. PubMed ID: 16266892
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