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Items: 1 to 20 of 113

1.

Human gene copy number spectra analysis in congenital heart malformations.

Tomita-Mitchell A, Mahnke DK, Struble CA, Tuffnell ME, Stamm KD, Hidestrand M, Harris SE, Goetsch MA, Simpson PM, Bick DP, Broeckel U, Pelech AN, Tweddell JS, Mitchell ME.

Physiol Genomics. 2012 May 1;44(9):518-41. doi: 10.1152/physiolgenomics.00013.2012. Epub 2012 Feb 7.

2.

Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival.

Kim DS, Kim JH, Burt AA, Crosslin DR, Burnham N, Kim CE, McDonald-McGinn DM, Zackai EH, Nicolson SC, Spray TL, Stanaway IB, Nickerson DA, Heagerty PJ, Hakonarson H, Gaynor JW, Jarvik GP.

J Thorac Cardiovasc Surg. 2016 Apr;151(4):1147-51.e4. doi: 10.1016/j.jtcvs.2015.09.136. Epub 2015 Nov 10.

3.

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.

Glessner JT, Bick AG, Ito K, Homsy J, Rodriguez-Murillo L, Fromer M, Mazaika E, Vardarajan B, Italia M, Leipzig J, DePalma SR, Golhar R, Sanders SJ, Yamrom B, Ronemus M, Iossifov I, Willsey AJ, State MW, Kaltman JR, White PS, Shen Y, Warburton D, Brueckner M, Seidman C, Goldmuntz E, Gelb BD, Lifton R, Seidman J, Hakonarson H, Chung WK.

Circ Res. 2014 Oct 24;115(10):884-896. doi: 10.1161/CIRCRESAHA.115.304458. Epub 2014 Sep 9.

4.

Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.

Goldmuntz E, Paluru P, Glessner J, Hakonarson H, Biegel JA, White PS, Gai X, Shaikh TH.

Congenit Heart Dis. 2011 Nov-Dec;6(6):592-602. doi: 10.1111/j.1747-0803.2011.00582.x. Epub 2011 Oct 20.

5.

Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population.

An Y, Duan W, Huang G, Chen X, Li L, Nie C, Hou J, Gui Y, Wu Y, Zhang F, Shen Y, Wu B, Wang H.

BMC Med Genomics. 2016 Jan 8;9:2. doi: 10.1186/s12920-015-0163-4.

6.

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.

7.

Effect of copy number variants on outcomes for infants with single ventricle heart defects.

Carey AS, Liang L, Edwards J, Brandt T, Mei H, Sharp AJ, Hsu DT, Newburger JW, Ohye RG, Chung WK, Russell MW, Rosenfeld JA, Shaffer LG, Parides MK, Edelmann L, Gelb BD.

Circ Cardiovasc Genet. 2013 Oct;6(5):444-51. doi: 10.1161/CIRCGENETICS.113.000189. Epub 2013 Sep 10.

8.

Understanding the impact of 1q21.1 copy number variant.

Harvard C, Strong E, Mercier E, Colnaghi R, Alcantara D, Chow E, Martell S, Tyson C, Hrynchak M, McGillivray B, Hamilton S, Marles S, Mhanni A, Dawson AJ, Pavlidis P, Qiao Y, Holden JJ, Lewis SM, O'Driscoll M, Rajcan-Separovic E.

Orphanet J Rare Dis. 2011 Aug 8;6:54. doi: 10.1186/1750-1172-6-54.

9.

High-resolution analysis of copy number variants in adults with simple-to-moderate congenital heart disease.

Zhao W, Niu G, Shen B, Zheng Y, Gong F, Wang X, Lee J, Mulvihill JJ, Chen X, Li S.

Am J Med Genet A. 2013 Dec;161A(12):3087-94. doi: 10.1002/ajmg.a.36177. Epub 2013 Sep 24.

PMID:
24115576
10.

Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield.

Geng J, Picker J, Zheng Z, Zhang X, Wang J, Hisama F, Brown DW, Mullen MP, Harris D, Stoler J, Seman A, Miller DT, Fu Q, Roberts AE, Shen Y.

BMC Genomics. 2014 Dec 17;15:1127. doi: 10.1186/1471-2164-15-1127.

11.

Analysis of chromosomal structural variation in patients with congenital left-sided cardiac lesions.

White PS, Xie HM, Werner P, Glessner J, Latney B, Hakonarson H, Goldmuntz E.

Birth Defects Res A Clin Mol Teratol. 2014 Dec;100(12):951-64. doi: 10.1002/bdra.23279. Epub 2014 Jul 26.

PMID:
25066379
12.

Prenatal Diagnosis of DNA Copy Number Variations by Genomic Single-Nucleotide Polymorphism Array in Fetuses with Congenital Heart Defects.

Tang S, Lv J, Chen X, Bai L, Li H, Chen C, Wang P, Xu X, Lu J.

Fetal Diagn Ther. 2016;39(1):64-73. doi: 10.1159/000431320. Epub 2015 Jul 10.

PMID:
26184588
13.

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.

14.

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.

15.

Rare copy number variants contribute to congenital left-sided heart disease.

Hitz MP, Lemieux-Perreault LP, Marshall C, Feroz-Zada Y, Davies R, Yang SW, Lionel AC, D'Amours G, Lemyre E, Cullum R, Bigras JL, Thibeault M, Chetaille P, Montpetit A, Khairy P, Overduin B, Klaassen S, Hoodless P, Awadalla P, Hussin J, Idaghdour Y, Nemer M, Stewart AF, Boerkoel C, Scherer SW, Richter A, Dubé MP, Andelfinger G.

PLoS Genet. 2012 Sep;8(9):e1002903. doi: 10.1371/journal.pgen.1002903. Epub 2012 Sep 6. Erratum in: PLoS Genet. 2013 Mar;9(3). doi: 10.1371/annotation/8bc63544-9ed4-42ca-a830-e8058ab13bab. Awadalla, Philip [added]; Hussin, Julie [added]; Idaghdour, Youssef [added].

16.

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.

17.

Identification of GATA6 sequence variants in patients with congenital heart defects.

Maitra M, Koenig SN, Srivastava D, Garg V.

Pediatr Res. 2010 Oct;68(4):281-5. doi: 10.1203/00006450-201011001-00549.

18.

[Chromosomal changes in congenital heart disease].

Larsen LA.

Ugeskr Laeger. 2011 Jan 17;173(3):194-6. Danish.

PMID:
21241627
19.

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
20.

Chromosomal abnormalities and copy number variations in fetal left-sided congenital heart defects.

Jansen FA, Hoffer MJ, van Velzen CL, Plati SK, Rijlaarsdam ME, Clur SA, Blom NA, Pajkrt E, Bhola SL, Knegt AC, de Boer MA, Haak MC.

Prenat Diagn. 2016 Feb;36(2):177-85. doi: 10.1002/pd.4767. Epub 2016 Feb 3.

PMID:
26716421

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