Citations for
1CSX, NKX2-5
Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease.
Stallmeyer B, Fenge H, Nowak-Göttl U, Schulze-Bahr E.
Clin Genet lin Genet. 2010 Apr 20. [Epub ahead of print]PMID: 20456451 2010
2CSX, CTHM1, DEL22Q11, ICHD, JAG1, NKX2-5, TBX1, TRI21
Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.
Rauch R, Hofbeck M, Zweier C, Koch A, Zink S, Trautmann U, Hoyer J, Kaulitz R, Singer H, Rauch A.
J Med Genet 47(5):321-31. Epub 2009 Nov 30.PMID: 19948535 2010
3CFC1, CSX, DORV
Double outlet right ventricle: aetiologies and associations.
Obler D, Juraszek AL, Smoot LB, Natowicz MR.
J Med Genet 45(8):481-97. Epub 2008 May 2. Review. 2008
4CSX, NKX2-5
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.
Pabst S, Wollnik B, Rohmann E, Hintz Y, Glänzer K, Vetter H, Nickenig G, Grohé C.
Clin Res Cardiol 97(1):39-42. Epub 2007 Sep 25.PMID: 17891520 2008
5CSX, NKX2-5
A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype?
Gutierrez-Roelens I, De Roy L, Ovaert C, Sluysmans T, Devriendt K, Brunner HG, Vikkula M.
Eur J Hum Genet 14(12):1313-6. Epub 2006 Aug 9. 2006
6NKX2-5, CSX
Familial congenital heart disease, progressive atrioventricular block and the cardiac homeobox transcription factor gene NKX2.5: identification of a novel mutation.
Kšnig K, Will JC, Berger F, MŸller D, Benson DW.
Clin Res Cardiol 95(9):499-503. Epub 2006 Jul 20. No abstract available. 2006
7ASD2, CSX, GATA4, NKX2-5
Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.
Hirayama-Yamada K, Kamisago M, Akimoto K, Aotsuka H, Nakamura Y, Tomita H, Furutani M, Imamura S, Takao A, Nakazawa M, Matsuoka R.
Am J Med Genet A 135(1):47-52. 2005
8NKX2-5,CSX
Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease.
Reamon-Buettner SM, Borlak J.
J Med Genet 41(9):684-90. 2004
9NKX2-5, CSX
Biochemical analyses of eight NKX2.5 homeodomain missense mutations causing atrioventricular block and cardiac anomalies.
Kasahara H, Benson DW.
Cardiovasc Res 64(1):40-51. 2004
10NKX2-5,CSX
Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome.
Elliott DA, Kirk EP, Yeoh T, Chandar S, McKenzie F, Taylor P, Grossfeld P, Fatkin D, Jones O, Hayes P, Feneley M, Harvey RP.
J Am Coll Cardiol 41(11):2072-6. 2003
11CSX, NKX2-5
NKX2.5 mutations in patients with congenital heart disease.
McElhinney DB, Geiger E, Blinder J, Benson DW, Goldmuntz E.
J Am Coll Cardiol 42(9):1650-5. 2003
12NKX2-5,CSX
Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD.
Watanabe Y, Benson DW, Yano S, Akagi T, Yoshino M, Murray JC.
J Med Genet 39(11):807-11. No abstract available. 2002
13NKX2-5,CSX
Novel point mutation in the cardiac transcription factor CSX/NKX2.5 associated with congenital heart disease.
Ikeda Y, Hiroi Y, Hosoda T, Utsunomiya T, Matsuo S, Ito T, Inoue J, Sumiyoshi T, Takano H, Nagai R, Komuro I.
Circ J 66(6):561-3. 2002
14CSX, NKX2-5
NKX2.5 mutations in patients with tetralogy of fallot
Goldmuntz E, Geiger E, Benson DW.
Circulation 104(21):2565-8. 2001
15NKX2-5,CSX, DEL5Q
Ventricular noncompaction and distal chromosome 5q deletion.
Pauli RM, et al.
Am J Med Genet 85(4):419-23. 1999
16NKX2-5,CSX
Congenital heart disease caused by mutations in the transcription factor NKX2-5.
Schott JJ, Benson DW, Basson CT, Pease W, Silberbach GM, Moak JP, MaronBJ, Seidman CE, Seidman JG.
Science 281(5373):108-11. 1998