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Page 1
GATA4 mutations in 357 unrelated patients with congenital heart malformation.
Butler TL, Esposito G, Blue GM, Cole AD, Costa MW, Waddell LB, Walizada G, Sholler GF, Kirk EP, Feneley M, Harvey RP, Winlaw DS. Butler TL, et al. Among authors: kirk ep. Genet Test Mol Biomarkers. 2010 Dec;14(6):797-802. doi: 10.1089/gtmb.2010.0028. Epub 2010 Sep 27. Genet Test Mol Biomarkers. 2010. PMID: 20874241
Homeodomain factor Nkx2-5 in heart development and disease.
Harvey RP, Lai D, Elliott D, Biben C, Solloway M, Prall O, Stennard F, Schindeler A, Groves N, Lavulo L, Hyun C, Yeoh T, Costa M, Furtado M, Kirk E. Harvey RP, et al. Cold Spring Harb Symp Quant Biol. 2002;67:107-14. doi: 10.1101/sqb.2002.67.107. Cold Spring Harb Symp Quant Biol. 2002. PMID: 12858530 Review. No abstract available.
Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy.
Kirk EP, Sunde M, Costa MW, Rankin SA, Wolstein O, Castro ML, Butler TL, Hyun C, Guo G, Otway R, Mackay JP, Waddell LB, Cole AD, Hayward C, Keogh A, Macdonald P, Griffiths L, Fatkin D, Sholler GF, Zorn AM, Feneley MP, Winlaw DS, Harvey RP. Kirk EP, et al. Am J Hum Genet. 2007 Aug;81(2):280-91. doi: 10.1086/519530. Epub 2007 Jun 15. Am J Hum Genet. 2007. PMID: 17668378 Free PMC article.
Investigation of association between PFO complicated by cryptogenic stroke and a common variant of the cardiac transcription factor GATA4.
Moradi Marjaneh M, Kirk EP, Posch MG, Ozcelik C, Berger F, Hetzer R, Otway R, Butler TL, Blue GM, Griffiths LR, Fatkin D, Martinson JJ, Winlaw DS, Feneley MP, Harvey RP. Moradi Marjaneh M, et al. Among authors: kirk ep. PLoS One. 2011;6(6):e20711. doi: 10.1371/journal.pone.0020711. Epub 2011 Jun 6. PLoS One. 2011. PMID: 21673957 Free PMC article.
Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutations.
Granados-Riveron JT, Pope M, Bu'lock FA, Thornborough C, Eason J, Setchfield K, Ketley A, Kirk EP, Fatkin D, Feneley MP, Harvey RP, Brook JD. Granados-Riveron JT, et al. Among authors: kirk ep. Congenit Heart Dis. 2012 Mar-Apr;7(2):151-9. doi: 10.1111/j.1747-0803.2011.00573.x. Epub 2011 Oct 20. Congenit Heart Dis. 2012. PMID: 22011241 Free PMC article.
188 results