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Journal Abstract Search

131 related items for PubMed ID: 29596833

  • 1. A novel TBX1 missense mutation in patients with syndromic congenital heart defects.
    Jaouadi A, Tabebi M, Abdelhedi F, Abid D, Kamoun F, Chabchoub I, Maatoug S, Doukali H, Belghuith N, Ksentini MA, Keskes LA, Triki C, Hachicha M, Kamoun S, Kamoun H.
    Biochem Biophys Res Commun; 2018 May 15; 499(3):563-569. PubMed ID: 29596833
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  • 2. Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion.
    Xu YJ, Chen S, Zhang J, Fang SH, Guo QQ, Wang J, Fu QH, Li F, Xu R, Sun K.
    BMC Med Genet; 2014 Jul 06; 15():78. PubMed ID: 24998776
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  • 4. Allelic variations at the haploid TBX1 locus do not influence the cardiac phenotype in cases of 22q11 microdeletion.
    Voelckel MA, Girardot L, Giusiano B, Levy N, Philip N.
    Ann Genet; 2004 Jul 06; 47(3):235-40. PubMed ID: 15337468
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  • 8. Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus.
    Xu YJ, Wang J, Xu R, Zhao PJ, Wang XK, Sun HJ, Bao LM, Shen J, Fu QH, Li F, Sun K.
    BMC Med Genet; 2011 Dec 21; 12():169. PubMed ID: 22185286
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  • 10. 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 21; 11(4):349-51. PubMed ID: 12700609
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  • 11. A Novel TBX1 Loss-of-Function Mutation Associated with Congenital Heart Disease.
    Pan Y, Wang ZG, Liu XY, Zhao H, Zhou N, Zheng GF, Qiu XB, Li RG, Yuan F, Shi HY, Hou XM, Yang YQ.
    Pediatr Cardiol; 2015 Oct 21; 36(7):1400-10. PubMed ID: 25860641
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  • 12. Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.
    Zweier C, Sticht H, Aydin-Yaylagül I, Campbell CE, Rauch A.
    Am J Hum Genet; 2007 Mar 21; 80(3):510-7. PubMed ID: 17273972
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  • 15. Assessment of association between variants and haplotypes of the remaining TBX1 gene and manifestations of congenital heart defects in 22q11.2 deletion patients.
    Rauch A, Devriendt K, Koch A, Rauch R, Gewillig M, Kraus C, Weyand M, Singer H, Reis A, Hofbeck M.
    J Med Genet; 2004 Apr 21; 41(4):e40. PubMed ID: 15060116
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  • 16. [Identification of 22q11.2 microdeletion among patients with congenital heart diseases using droplet digital PCR].
    Zhou X, Zhang C, Li M, Ma J, Chen Q, Sun S, Zhang L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Feb 10; 35(1):47-50. PubMed ID: 29419859
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