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Items: 1 to 20 of 160

1.

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.

Congenit Heart Dis. 2012 Mar-Apr;7(2):151-9. doi: 10.1111/j.1747-0803.2011.00573.x. Epub 2011 Oct 20.

2.

Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations.

Jhang WK, Lee BH, Kim GH, Lee JO, Yoo HW.

Cardiol Young. 2015 Aug;25(6):1093-8. doi: 10.1017/S1047951114001656. Epub 2014 Sep 12.

PMID:
25216260
3.

Congenital heart diseases and their association with the variant distribution features on susceptibility genes.

Su W, Zhu P, Wang R, Wu Q, Wang M, Zhang X, Mei L, Tang J, Kumar M, Wang X, Su L, Dong N.

Clin Genet. 2017 Mar;91(3):349-354. doi: 10.1111/cge.12835. Epub 2016 Sep 5. Review.

PMID:
27426723
4.

GATA4 and NKX2.5 gene analysis in Chinese Uygur patients with congenital heart disease.

Zhang WM, Li XF, Ma ZY, Zhang J, Zhou SH, Li T, Shi L, Li ZZ.

Chin Med J (Engl). 2009 Feb 20;122(4):416-9.

PMID:
19302747
5.

Cardiac gene activation analysis in mammalian non-myoblasic cells by Nkx2-5, Tbx5, Gata4 and Myocd.

Zhou L, Liu Y, Lu L, Lu X, Dixon RA.

PLoS One. 2012;7(10):e48028. doi: 10.1371/journal.pone.0048028. Epub 2012 Oct 29.

6.

[Genetic screening of Gata4 and Nkx2.5 mutations in hereditary congenital heart defects: 5 familial cases].

Pulignani S, Foffa I, Cresci M, Vittorini S, Ait-Ali L, Andreassi MG.

Recenti Prog Med. 2011 Mar;102(3):120-5. doi: 10.1701/608.7068. Italian.

PMID:
21572484
7.

GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5.

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.

Nature. 2003 Jul 24;424(6947):443-7. Epub 2003 Jul 6.

PMID:
12845333
8.

Analyses of GATA4, NKX2.5, and TFAP2B genes in subjects from southern China with sporadic congenital heart disease.

Xiong F, Li Q, Zhang C, Chen Y, Li P, Wei X, Li Q, Zhou W, Li L, Shang X, Xu X.

Cardiovasc Pathol. 2013 Mar-Apr;22(2):141-5. doi: 10.1016/j.carpath.2012.07.001. Epub 2012 Sep 6.

PMID:
22959235
9.

Identification of TBX5 mutations in a series of 94 patients with Tetralogy of Fallot.

Baban A, Postma AV, Marini M, Trocchio G, Santilli A, Pelegrini M, Sirleto P, Lerone M, Albanese SB, Barnett P, Boogerd CJ, Dallapiccola B, Digilio MC, Ravazzolo R, Pongiglione G.

Am J Med Genet A. 2014 Dec;164A(12):3100-7. doi: 10.1002/ajmg.a.36783. Epub 2014 Sep 26.

PMID:
25263169
10.

Mutations of NKX2.5 and GATA4 genes in the development of congenital heart disease.

Tong YF.

Gene. 2016 Aug 15;588(1):86-94. doi: 10.1016/j.gene.2016.04.061. Epub 2016 May 3.

PMID:
27154817
11.

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.

Genet Test Mol Biomarkers. 2010 Dec;14(6):797-802. doi: 10.1089/gtmb.2010.0028. Epub 2010 Sep 27.

PMID:
20874241
12.

Insights into the genetic structure of congenital heart disease from human and murine studies on monogenic disorders.

Prendiville T, Jay PY, Pu WT.

Cold Spring Harb Perspect Med. 2014 Oct 1;4(10). pii: a013946. doi: 10.1101/cshperspect.a013946. Review.

13.

Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects.

Salazar M, Consoli F, Villegas V, Caicedo V, Maddaloni V, Daniele P, Caianiello G, Pachón S, Nuñez F, Limongelli G, Pacileo G, Marino B, Bernal JE, De Luca A, Dallapiccola B.

Eur J Med Genet. 2011 May-Jun;54(3):306-9. doi: 10.1016/j.ejmg.2011.01.004. Epub 2011 Jan 27.

PMID:
21276881
14.

Nuclear Receptor-Like Structure and Interaction of Congenital Heart Disease-Associated Factors GATA4 and NKX2-5.

Kinnunen S, Välimäki M, Tölli M, Wohlfahrt G, Darwich R, Komati H, Nemer M, Ruskoaho H.

PLoS One. 2015 Dec 7;10(12):e0144145. doi: 10.1371/journal.pone.0144145. eCollection 2015.

15.

Genetic analysis of essential cardiac transcription factors in 256 patients with non-syndromic congenital heart defects.

Kodo K, Nishizawa T, Furutani M, Arai S, Ishihara K, Oda M, Makino S, Fukuda K, Takahashi T, Matsuoka R, Nakanishi T, Yamagishi H.

Circ J. 2012;76(7):1703-11. Epub 2012 Apr 13.

16.

[NKX2.5 and TBX5 gene mutations in in vitro fertilization children with congenital heart disease].

Yang JH, Xu XY, Mi HY, Jiang Y, Ma XM, Li L.

Zhongguo Dang Dai Er Ke Za Zhi. 2017 Jun;19(6):652-657. Chinese.

PMID:
28606231
17.

A novel mutation in GATA4 gene associated with dominant inherited familial atrial septal defect.

Chen Y, Han ZQ, Yan WD, Tang CZ, Xie JY, Chen H, Hu DY.

J Thorac Cardiovasc Surg. 2010 Sep;140(3):684-7. doi: 10.1016/j.jtcvs.2010.01.013. Epub 2010 Mar 26.

18.

A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field.

El Malti R, Liu H, Doray B, Thauvin C, Maltret A, Dauphin C, Gonçalves-Rocha M, Teboul M, Blanchet P, Roume J, Gronier C, Ducreux C, Veyrier M, Marçon F, Acar P, Lusson JR, Levy M, Beyler C, Vigneron J, Cordier-Alex MP, Heitz F, Sanlaville D, Bonnet D, Bouvagnet P.

Eur J Hum Genet. 2016 Feb;24(2):228-36. doi: 10.1038/ejhg.2015.105. Epub 2015 May 27.

19.

R25C mutation in the NKX2.5 gene in Italian patients affected with non-syndromic and syndromic congenital heart disease.

Beffagna G, Cecchetto A, Dal Bianco L, Lorenzon A, Angelini A, Padalino M, Vida V, Bhattacharya S, Stellin G, Rampazzo A, Daliento L.

J Cardiovasc Med (Hagerstown). 2013 Aug;14(8):582-6. doi: 10.2459/JCM.0b013e328356a326.

PMID:
22964646
20.

Germline mutations in NKX2-5, GATA4, and CRELD1 are rare in a Mexican sample of Down syndrome patients with endocardial cushion and septal heart defects.

Alcántara-Ortigoza MA, De Rubens-Figueroa J, Reyna-Fabian ME, Estandía-Ortega B, González-del Angel A, Molina-Álvarez B, Velázquez-Aragón JA, Villagómez-Martínez S, Pereira-López GI, Martínez-Cruz V, Álvarez-Gómez RM, Díaz-García L.

Pediatr Cardiol. 2015 Apr;36(4):802-8. doi: 10.1007/s00246-014-1091-3. Epub 2014 Dec 19. Erratum in: Pediatr Cardiol. 2015 Oct;36(7):1551.

PMID:
25524324

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