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Journal Abstract Search

451 related items for PubMed ID: 16917909

  • 1. Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations.
    Borozdin W, Bravo Ferrer Acosta AM, Bamshad MJ, Botzenhart EM, Froster UG, Lemke J, Schinzel A, Spranger S, McGaughran J, Wand D, Chrzanowska KH, Kohlhase J.
    Hum Mutat; 2006 Sep; 27(9):975-6. PubMed ID: 16917909
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  • 3. TBX5 mutations in non-Holt-Oram syndrome (HOS) malformed hearts.
    Reamon-Buettner SM, Borlak J.
    Hum Mutat; 2004 Jul; 24(1):104. PubMed ID: 15221798
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  • 4. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
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  • 6. TBX5, a gene mutated in Holt-Oram syndrome, is regulated through a GC box and T-box binding elements (TBEs).
    Sun G, Lewis LE, Huang X, Nguyen Q, Price C, Huang T.
    J Cell Biochem; 2004 May 01; 92(1):189-99. PubMed ID: 15095414
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  • 7. TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome.
    McDermott DA, Bressan MC, He J, Lee JS, Aftimos S, Brueckner M, Gilbert F, Graham GE, Hannibal MC, Innis JW, Pierpont ME, Raas-Rothschild A, Shanske AL, Smith WE, Spencer RH, St John-Sutton MG, van Maldergem L, Waggoner DJ, Weber M, Basson CT.
    Pediatr Res; 2005 Nov 01; 58(5):981-6. PubMed ID: 16183809
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  • 9. Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome.
    Basson CT, Bachinsky DR, Lin RC, Levi T, Elkins JA, Soults J, Grayzel D, Kroumpouzou E, Traill TA, Leblanc-Straceski J, Renault B, Kucherlapati R, Seidman JG, Seidman CE.
    Nat Genet; 1997 Jan 01; 15(1):30-5. PubMed ID: 8988165
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  • 12. Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations.
    Jhang WK, Lee BH, Kim GH, Lee JO, Yoo HW.
    Cardiol Young; 2015 Aug 01; 25(6):1093-8. PubMed ID: 25216260
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  • 15. Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein.
    Böhm J, Heinritz W, Craig A, Vujic M, Ekman-Joelsson BM, Kohlhase J, Froster U.
    BMC Med Genet; 2008 Oct 01; 9():88. PubMed ID: 18828908
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  • 17. Familial dilated cardiomyopathy associated with pathogenic TBX5 variants: Expanding the cardiac phenotype associated with Holt-Oram syndrome.
    Patterson J, Coats C, McGowan R.
    Am J Med Genet A; 2020 Jul 01; 182(7):1725-1734. PubMed ID: 32449309
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