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Journal Abstract Search

157 related items for PubMed ID: 34348791

  • 1. 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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  • 2. 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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  • 4. Identification of a Novel Frameshift variant of the ATRX gene: a Case Report and Review of the genotype-phenotype relationship.
    Wang Y, Ma Q, Chen J, Li S, Zheng F, Shi L, Li X, Li S, Tong G, Li H.
    BMC Pediatr; 2024 Oct 03; 24(1):631. PubMed ID: 39363269
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  • 5. 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 03; 173(5):1390-1395. PubMed ID: 28371217
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  • 6. 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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  • 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 15; 29(6):796-802. PubMed ID: 18409179
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  • 9. 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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  • 10. A case of ATR-X syndrome with mitochondrial respiratory chain dysfunction.
    Aiba K, Nakamura Y, Sugimoto M, Yatsuka Y, Okazaki Y, Murayama K, Ohtake A, Yokochi K, Saitoh S.
    Eur J Med Genet; 2021 Aug 15; 64(8):104251. PubMed ID: 34051360
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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 Aug 15; 10():10. PubMed ID: 28293299
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  • 15. 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 15; 34(10):2034-8. PubMed ID: 23681356
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  • 16. ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31).
    Thakur S, Ishrie M, Saxena R, Danda S, Linda R, Viswabandya A, Verma IC.
    Indian J Med Res; 2011 Oct 15; 134(4):483-6. PubMed ID: 22089611
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  • 17. 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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  • 18. 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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  • 19. [X-linked alpha-thalassemia/mental retardation syndrome].
    Wada T.
    Rinsho Byori; 2009 Apr 01; 57(4):382-90. PubMed ID: 19489441
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  • 20. [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 01; 12(9):1372-5. PubMed ID: 16125058
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