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Items: 1 to 20 of 112

1.

Identification of microRNAs present in congenital heart disease associated copy number variants.

Xing HJ, Li YJ, Ma QM, Wang AM, Wang JL, Sun M, Jian Q, Hu JH, Li D, Wang L.

Eur Rev Med Pharmacol Sci. 2013;17(15):2114-20.

2.

Insights on the functional impact of microRNAs present in autism-associated copy number variants.

Vaishnavi V, Manikandan M, Tiwary BK, Munirajan AK.

PLoS One. 2013;8(2):e56781. doi: 10.1371/journal.pone.0056781. Epub 2013 Feb 25.

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 JG, 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):884-96. doi: 10.1161/CIRCRESAHA.115.304458. Epub 2014 Sep 9.

4.

miRNA and miRNA target genes in copy number variations occurring in individuals with intellectual disability.

Qiao Y, Badduke C, Mercier E, Lewis SM, Pavlidis P, Rajcan-Separovic E.

BMC Genomics. 2013 Aug 10;14:544. doi: 10.1186/1471-2164-14-544.

5.

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.

6.

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.

7.

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.

8.

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
9.

Copy number variation of microRNA genes in the human genome.

Marcinkowska M, Szymanski M, Krzyzosiak WJ, Kozlowski P.

BMC Genomics. 2011 Apr 12;12:183. doi: 10.1186/1471-2164-12-183.

10.

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.

Sailani MR, Makrythanasis P, Valsesia A, Santoni FA, Deutsch S, Popadin K, Borel C, Migliavacca E, Sharp AJ, Duriaux Sail G, Falconnet E, Rabionet K, Serra-Juhé C, Vicari S, Laux D, Grattau Y, Dembour G, Megarbane A, Touraine R, Stora S, Kitsiou S, Fryssira H, Chatzisevastou-Loukidou C, Kanavakis E, Merla G, Bonnet D, Pérez-Jurado LA, Estivill X, Delabar JM, Antonarakis SE.

Genome Res. 2013 Sep;23(9):1410-21. doi: 10.1101/gr.147991.112. Epub 2013 Jun 19.

11.

Copy number variable microRNAs in schizophrenia and their neurodevelopmental gene targets.

Warnica W, Merico D, Costain G, Alfred SE, Wei J, Marshall CR, Scherer SW, Bassett AS.

Biol Psychiatry. 2015 Jan 15;77(2):158-66. doi: 10.1016/j.biopsych.2014.05.011. Epub 2014 May 29.

12.

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.

13.

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.

PMID:
26704054
14.

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.

15.

Identification of maternal serum microRNAs as novel non-invasive biomarkers for prenatal detection of fetal congenital heart defects.

Zhu S, Cao L, Zhu J, Kong L, Jin J, Qian L, Zhu C, Hu X, Li M, Guo X, Han S, Yu Z.

Clin Chim Acta. 2013 Sep 23;424:66-72. doi: 10.1016/j.cca.2013.05.010. Epub 2013 May 21.

PMID:
23707860
16.

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.

17.

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.

18.

Screening key genes associated with congenital heart defects in Down syndrome based on differential expression network.

Yu S, Yi H, Wang Z, Dong J.

Int J Clin Exp Pathol. 2015 Jul 1;8(7):8385-93. eCollection 2015.

19.

Comprehensive analysis of the impact of SNPs and CNVs on human microRNAs and their regulatory genes.

Duan S, Mi S, Zhang W, Dolan ME.

RNA Biol. 2009 Sep-Oct;6(4):412-25. Epub 2009 Sep 23.

20.

Germline hereditary, somatic mutations and microRNAs targeting-SNPs in congenital heart defects.

Sabina S, Pulignani S, Rizzo M, Cresci M, Vecoli C, Foffa I, Ait-Ali L, Pitto L, Andreassi MG.

J Mol Cell Cardiol. 2013 Jul;60:84-9. doi: 10.1016/j.yjmcc.2013.04.002. Epub 2013 Apr 11.

PMID:
23583740
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