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Journal Abstract Search

189 related items for PubMed ID: 17479646

  • 1. TBX1 gene mutation screening in patients with non-syndromic Fallot tetralogy.
    Cabuk F, Karabulut HG, Tuncali T, Karademir S, Bozdayi M, Tükün A.
    Turk J Pediatr; 2007; 49(1):61-8. PubMed ID: 17479646
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  • 2. DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 gene.
    Conti E, Grifone N, Sarkozy A, Tandoi C, Marino B, Digilio MC, Mingarelli R, Pizzuti A, Dallapiccola B.
    Eur J Hum Genet; 2003 Apr; 11(4):349-51. PubMed ID: 12700609
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  • 3. Frequency of 22q11.2 microdeletion in sporadic non-syndromic tetralogy of Fallot cases.
    Gioli-Pereira L, Pereira AC, Bergara D, Mesquita S, Lopes AA, Krieger JE.
    Int J Cardiol; 2008 Jun 06; 126(3):374-8. PubMed ID: 17604138
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  • 4. Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation.
    Stoller JZ, Epstein JA.
    Hum Mol Genet; 2005 Apr 01; 14(7):885-92. PubMed ID: 15703190
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  • 18. Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants.
    Griffin HR, Töpf A, Glen E, Zweier C, Stuart AG, Parsons J, Peart I, Deanfield J, O'Sullivan J, Rauch A, Scambler P, Burn J, Cordell HJ, Keavney B, Goodship JA.
    Heart; 2010 Oct 01; 96(20):1651-5. PubMed ID: 20937753
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