| 1 | ASD2, GATA4, ID2, SMAD4
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| Transcription factor genes Smad4 and Gata4 cooperatively regulate cardiac valve development. [corrected]
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| Moskowitz IP, Wang J, Peterson MA, Pu WT, Mackinnon AC, Oxburgh L, Chu GC, Sarkar M, Berul C, Smoot L, Robertson EJ, Schwartz R, Seidman JG, Seidman CE.
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| Proc Natl Acad Sci U S A 108(10):4006-11. Epub 2011 Feb 17. Erratum in: Proc Natl Acad Sci U S A. 2011 Apr 5;108(14):5921.
2011
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| 2 | ASD2, GATA4
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| Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects.
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| Hamanoue H, Rahayuningsih SE, Hirahara Y, Itoh J, Yokoyama U, Mizuguchi T, Saitsu H, Miyake N, Hirahara F, Matsumoto N.
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| Cardiol Young 19(5):482-5. Epub 2009 Aug 13. 2009
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| 3 | ASD2, ASD3, GATA4, ICHD, JAG1, MYH6, NKX2-5, NOTCH1, TBX1, TBX20, TBX5, TFAP2B, THRAP2
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| The developmental genetics of congenital heart disease.
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| Bruneau BG.
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| Nature 451(7181):943-8. 2008
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| 4 | ASD2, GATA4
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| Screening and biochemical analysis of GATA4 sequence variations identified in patients with congenital heart disease.
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| Schluterman MK, Krysiak AE, Kathiriya IS, Abate N, Chandalia M, Srivastava D, Garg V.
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| Am J Med Genet A 143(8):817-23. 2007
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| 5 | ASD2, CSX, GATA4, NKX2-5
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| Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.
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| Hirayama-Yamada K, Kamisago M, Akimoto K, Aotsuka H, Nakamura Y, Tomita H, Furutani M, Imamura S, Takao A, Nakazawa M, Matsuoka R.
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| Am J Med Genet A 135(1):47-52. 2005
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| 6 | ASD2, GATA4, TBX5
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| GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5.
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| Garg V, Kathiriya IS, Barnes R, Schluterman MK, King IN, Butler CA, Rothrock CR, Eapen RS, Hirayama-Yamada K, Joo K, Matsuoka R, Cohen JC, Srivastava D.
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| Nature 424(6947):443-7. Epub 2003 Jul 6. 2003
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