1 | CSX, NKX2-5
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| Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease.
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| Stallmeyer B, Fenge H, Nowak-Göttl U, Schulze-Bahr E.
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| Clin Genet lin Genet. 2010 Apr 20. [Epub ahead of print]PMID: 20456451 2010
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2 | CSX, CTHM1, DEL22Q11, ICHD, JAG1, NKX2-5, TBX1, TRI21
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| Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.
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| Rauch R, Hofbeck M, Zweier C, Koch A, Zink S, Trautmann U, Hoyer J, Kaulitz R, Singer H, Rauch A.
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| J Med Genet 47(5):321-31. Epub 2009 Nov 30.PMID: 19948535 2010
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3 | CFC1, CSX, DORV
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| Double outlet right ventricle: aetiologies and associations.
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| Obler D, Juraszek AL, Smoot LB, Natowicz MR.
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| J Med Genet 45(8):481-97. Epub 2008 May 2. Review. 2008
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4 | CSX, NKX2-5
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| A novel stop mutation truncating critical regions of the cardiac transcription factor NKX2-5 in a large family with autosomal-dominant inherited congenital heart disease.
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| Pabst S, Wollnik B, Rohmann E, Hintz Y, Glänzer K, Vetter H, Nickenig G, Grohé C.
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| Clin Res Cardiol 97(1):39-42. Epub 2007 Sep 25.PMID: 17891520 2008
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5 | CSX, NKX2-5
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| A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype?
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| Gutierrez-Roelens I, De Roy L, Ovaert C, Sluysmans T, Devriendt K, Brunner HG, Vikkula M.
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| Eur J Hum Genet 14(12):1313-6. Epub 2006 Aug 9. 2006
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6 | NKX2-5, CSX
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| Familial congenital heart disease, progressive atrioventricular block and the cardiac homeobox transcription factor gene NKX2.5: identification of a novel mutation.
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| Kšnig K, Will JC, Berger F, MŸller D, Benson DW.
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| Clin Res Cardiol 95(9):499-503. Epub 2006 Jul 20. No abstract available. 2006
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7 | 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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8 | NKX2-5,CSX
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| Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease.
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| Reamon-Buettner SM, Borlak J.
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| J Med Genet 41(9):684-90. 2004
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9 | NKX2-5, CSX
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| Biochemical analyses of eight NKX2.5 homeodomain missense mutations causing atrioventricular block and cardiac anomalies.
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| Kasahara H, Benson DW.
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| Cardiovasc Res 64(1):40-51. 2004
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10 | NKX2-5,CSX
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| Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome.
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| Elliott DA, Kirk EP, Yeoh T, Chandar S, McKenzie F, Taylor P, Grossfeld P, Fatkin D, Jones O, Hayes P, Feneley M, Harvey RP.
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| J Am Coll Cardiol 41(11):2072-6. 2003
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11 | CSX, NKX2-5
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| NKX2.5 mutations in patients with congenital heart disease.
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| McElhinney DB, Geiger E, Blinder J, Benson DW, Goldmuntz E.
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| J Am Coll Cardiol 42(9):1650-5. 2003
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12 | NKX2-5,CSX
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| Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD.
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| Watanabe Y, Benson DW, Yano S, Akagi T, Yoshino M, Murray JC.
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| J Med Genet 39(11):807-11. No abstract available. 2002
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13 | NKX2-5,CSX
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| Novel point mutation in the cardiac transcription factor CSX/NKX2.5 associated with congenital heart disease.
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| Ikeda Y, Hiroi Y, Hosoda T, Utsunomiya T, Matsuo S, Ito T, Inoue J, Sumiyoshi T, Takano H, Nagai R, Komuro I.
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| Circ J 66(6):561-3. 2002
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14 | CSX, NKX2-5
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| NKX2.5 mutations in patients with tetralogy of fallot
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| Goldmuntz E, Geiger E, Benson DW.
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| Circulation 104(21):2565-8. 2001
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15 | NKX2-5,CSX, DEL5Q
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| Ventricular noncompaction and distal chromosome 5q deletion.
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| Pauli RM, et al.
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| Am J Med Genet 85(4):419-23. 1999
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16 | NKX2-5,CSX
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| Congenital heart disease caused by mutations in the transcription factor NKX2-5.
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| Schott JJ, Benson DW, Basson CT, Pease W, Silberbach GM, Moak JP, MaronBJ, Seidman CE, Seidman JG.
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| Science 281(5373):108-11. 1998
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