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Items: 1 to 20 of 88

1.

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.

Greenway SC, Pereira AC, Lin JC, DePalma SR, Israel SJ, Mesquita SM, Ergul E, Conta JH, Korn JM, McCarroll SA, Gorham JM, Gabriel S, Altshuler DM, Quintanilla-Dieck Mde L, Artunduaga MA, Eavey RD, Plenge RM, Shadick NA, Weinblatt ME, De Jager PL, Hafler DA, Breitbart RE, Seidman JG, Seidman CE.

Nat Genet. 2009 Aug;41(8):931-5. doi: 10.1038/ng.415. Epub 2009 Jul 13.

2.

Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways.

Silversides CK, Lionel AC, Costain G, Merico D, Migita O, Liu B, Yuen T, Rickaby J, Thiruvahindrapuram B, Marshall CR, Scherer SW, Bassett AS.

PLoS Genet. 2012;8(8):e1002843. doi: 10.1371/journal.pgen.1002843. Epub 2012 Aug 9.

3.

Ultra high-resolution gene centric genomic structural analysis of a non-syndromic congenital heart defect, Tetralogy of Fallot.

Bittel DC, Zhou XG, Kibiryeva N, Fiedler S, O'Brien JE Jr, Marshall J, Yu S, Liu HY.

PLoS One. 2014 Jan 31;9(1):e87472. doi: 10.1371/journal.pone.0087472. eCollection 2014. Erratum in: PLoS One. 2014;9(5):e99148.

4.

Outlier-based identification of copy number variations using targeted resequencing in a small cohort of patients with Tetralogy of Fallot.

Bansal V, Dorn C, Grunert M, Klaassen S, Hetzer R, Berger F, Sperling SR.

PLoS One. 2014 Jan 6;9(1):e85375. doi: 10.1371/journal.pone.0085375. eCollection 2014.

5.

Identification of Copy Number Variations in Isolated Tetralogy of Fallot.

Aguayo-Gómez A, Arteaga-Vázquez J, Svyryd Y, Calderón-Colmenero J, Zamora-González C, Vargas-Alarcón G, Mutchinick OM.

Pediatr Cardiol. 2015 Dec;36(8):1642-6. doi: 10.1007/s00246-015-1210-9. Epub 2015 Jun 3.

PMID:
26036351
6.

Search for Rare Copy-Number Variants in Congenital Heart Defects Identifies Novel Candidate Genes and a Potential Role for FOXC1 in Patients With Coarctation of the Aorta.

Sanchez-Castro M, Eldjouzi H, Charpentier E, Busson PF, Hauet Q, Lindenbaum P, Delasalle-Guyomarch B, Baudry A, Pichon O, Pascal C, Lefort B, Bajolle F, Pezard P, Schott JJ, Dina C, Redon R, Gournay V, Bonnet D, Le Caignec C.

Circ Cardiovasc Genet. 2016 Feb;9(1):86-94. doi: 10.1161/CIRCGENETICS.115.001213. Epub 2015 Dec 7.

7.

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.

Soemedi R, Topf A, Wilson IJ, Darlay R, Rahman T, Glen E, Hall D, Huang N, Bentham J, Bhattacharya S, Cosgrove C, Brook JD, Granados-Riveron J, Setchfield K, Bu'lock F, Thornborough C, Devriendt K, Breckpot J, Hofbeck M, Lathrop M, Rauch A, Blue GM, Winlaw DS, Hurles M, Santibanez-Koref M, Cordell HJ, Goodship JA, Keavney BD.

Hum Mol Genet. 2012 Apr 1;21(7):1513-20. doi: 10.1093/hmg/ddr589. Epub 2011 Dec 22.

8.

A common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot.

Goodship JA, Hall D, Topf A, Mamasoula C, Griffin H, Rahman TJ, Glen E, Tan H, Palomino Doza J, Relton CL, Bentham J, Bhattacharya S, Cosgrove C, Brook D, Granados-Riveron J, Bu'Lock FA, O'Sullivan J, Stuart AG, Parsons J, Cordell HJ, Keavney B.

Circ Cardiovasc Genet. 2012 Jun;5(3):287-92. doi: 10.1161/CIRCGENETICS.111.962035. Epub 2012 Apr 13.

9.

Rare and private variations in neural crest, apoptosis and sarcomere genes define the polygenic background of isolated Tetralogy of Fallot.

Grunert M, Dorn C, Schueler M, Dunkel I, Schlesinger J, Mebus S, Alexi-Meskishvili V, Perrot A, Wassilew K, Timmermann B, Hetzer R, Berger F, Sperling SR.

Hum Mol Genet. 2014 Jun 15;23(12):3115-28. doi: 10.1093/hmg/ddu021. Epub 2014 Jan 23.

PMID:
24459294
10.

Application of array-comparative genomic hybridization in tetralogy of Fallot.

Liu L, Wang HD, Cui CY, Wu D, Li T, Fan TB, Peng BT, Zhang LZ, Wang CZ.

Medicine (Baltimore). 2016 Dec;95(49):e5552.

11.

Frequent association of 22q11.2 deletion with tetralogy of Fallot.

Maeda J, Yamagishi H, Matsuoka R, Ishihara J, Tokumura M, Fukushima H, Ueda H, Takahashi E, Yoshiba S, Kojima Y.

Am J Med Genet. 2000 Jun 5;92(4):269-72. Erratum in: Am J Med Genet 2000 Sep 4;94(1):following 84.

PMID:
10842294
12.

Frequency of 22q11.2 microdeletion in sporadic non-syndromic tetralogy of Fallot cases.

Gioli-Pereira L, Pereira AC, Bergara D, Mesquita S, Lopes AA, Krieger JE.

Int J Cardiol. 2008 Jun 6;126(3):374-8. Epub 2007 Jun 29.

PMID:
17604138
13.

Genome-wide rare copy number variations contribute to genetic risk for transposition of the great arteries.

Costain G, Lionel AC, Ogura L, Marshall CR, Scherer SW, Silversides CK, Bassett AS.

Int J Cardiol. 2016 Feb 1;204:115-21. doi: 10.1016/j.ijcard.2015.11.127. Epub 2015 Nov 22.

PMID:
26655555
14.

Genetic variants at 10p11 confer risk of Tetralogy of Fallot in Chinese of Nanjing.

Xu J, Lin Y, Si L, Jin G, Dai J, Wang C, Chen J, Da M, Hu Y, Yi C, Hu Z, Shen H, Mo X, Chen Y, Wang X.

PLoS One. 2014 Mar 3;9(3):e89636. doi: 10.1371/journal.pone.0089636. eCollection 2014.

15.

Rare de novo copy number variants in patients with congenital pulmonary atresia.

Xie L, Chen JL, Zhang WZ, Wang SZ, Zhao TL, Huang C, Wang J, Yang JF, Yang YF, Tan ZP.

PLoS One. 2014 May 14;9(5):e96471. doi: 10.1371/journal.pone.0096471. eCollection 2014.

16.

The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease.

Warburton D, Ronemus M, Kline J, Jobanputra V, Williams I, Anyane-Yeboa K, Chung W, Yu L, Wong N, Awad D, Yu CY, Leotta A, Kendall J, Yamrom B, Lee YH, Wigler M, Levy D.

Hum Genet. 2014 Jan;133(1):11-27. doi: 10.1007/s00439-013-1353-9. Epub 2013 Aug 25.

17.

Functionally significant, rare transcription factor variants in tetralogy of Fallot.

Töpf A, Griffin HR, Glen E, Soemedi R, Brown DL, Hall D, Rahman TJ, Eloranta JJ, Jüngst C, Stuart AG, O'Sullivan J, Keavney BD, Goodship JA.

PLoS One. 2014 Aug 5;9(8):e95453. doi: 10.1371/journal.pone.0095453. eCollection 2014.

18.

Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.

Cordell HJ, Töpf A, Mamasoula C, Postma AV, Bentham J, Zelenika D, Heath S, Blue G, Cosgrove C, Granados Riveron J, Darlay R, Soemedi R, Wilson IJ, Ayers KL, Rahman TJ, Hall D, Mulder BJ, Zwinderman AH, van Engelen K, Brook JD, Setchfield K, Bu'Lock FA, Thornborough C, O'Sullivan J, Stuart AG, Parsons J, Bhattacharya S, Winlaw D, Mital S, Gewillig M, Breckpot J, Devriendt K, Moorman AF, Rauch A, Lathrop GM, Keavney BD, Goodship JA.

Hum Mol Genet. 2013 Apr 1;22(7):1473-81. doi: 10.1093/hmg/dds552. Epub 2013 Jan 7.

19.

Prevalence and parental origin in Tetralogy of Fallot associated with chromosome 22q11 microdeletion.

Lu JH, Chung MY, Hwang B, Chien HP.

Pediatrics. 1999 Jul;104(1 Pt 1):87-90.

PMID:
10390265
20.

Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.

Soemedi R, Wilson IJ, Bentham J, Darlay R, Töpf A, Zelenika D, Cosgrove C, Setchfield K, Thornborough C, Granados-Riveron J, Blue GM, Breckpot J, Hellens S, Zwolinkski S, Glen E, Mamasoula C, Rahman TJ, Hall D, Rauch A, Devriendt K, Gewillig M, O' Sullivan J, Winlaw DS, Bu'Lock F, Brook JD, Bhattacharya S, Lathrop M, Santibanez-Koref M, Cordell HJ, Goodship JA, Keavney BD.

Am J Hum Genet. 2012 Sep 7;91(3):489-501. doi: 10.1016/j.ajhg.2012.08.003. Epub 2012 Aug 30.

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