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Items: 1 to 20 of 135

1.

Submicroscopic chromosomal copy number variations identified in children with hypoplastic left heart syndrome.

Payne AR, Chang SW, Koenig SN, Zinn AR, Garg V.

Pediatr Cardiol. 2012 Jun;33(5):757-63. doi: 10.1007/s00246-012-0208-9. Epub 2012 Feb 21.

PMID:
22349727
2.

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.

3.

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
4.

Detection of submicroscopic chromosomal aberrations by array-based comparative genomic hybridization in fetuses with congenital heart disease.

Yan Y, Wu Q, Zhang L, Wang X, Dan S, Deng D, Sun L, Yao L, Ma Y, Wang L.

Ultrasound Obstet Gynecol. 2014 Apr;43(4):404-12. doi: 10.1002/uog.13236.

5.

[Array-based comparative genomic hybridization detection of copy number variations in a fetus with hypoplastic left-heart syndrome].

Wang Y, Ma DY, Yang YQ, Zhou J, Zhou XY, Ji XQ, Chen J, Cao L, Hu P, Xu ZF.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Aug;29(4):439-42. doi: 10.3760/cma.j.issn.1003-9406.2012.04.013. Chinese.

PMID:
22875502
6.

Transcriptional Impact of Rare and Private Copy Number Variants in Hypoplastic Left Heart Syndrome.

Glidewell SC, Miyamoto SD, Grossfeld PD, Clouthier DE, Coldren CD, Stearman RS, Geraci MW.

Clin Transl Sci. 2015 Dec;8(6):682-9. doi: 10.1111/cts.12340. Epub 2015 Nov 4.

7.

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.

8.

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.

9.

Hypoplastic left heart syndrome is heritable.

Hinton RB Jr, Martin LJ, Tabangin ME, Mazwi ML, Cripe LH, Benson DW.

J Am Coll Cardiol. 2007 Oct 16;50(16):1590-5. Epub 2007 Oct 1.

10.

Cytogenomic Evaluation of Subjects with Syndromic and Nonsyndromic Conotruncal Heart Defects.

de Souza KR, Mergener R, Huber J, Campos Pellanda L, Riegel M.

Biomed Res Int. 2015;2015:401941. doi: 10.1155/2015/401941. Epub 2015 Jun 7.

11.

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.

12.

Hypoplastic left heart syndrome and 21q22.3 deletion.

Ciocca L, Digilio MC, Lombardo A, D'Elia G, Baban A, Capolino R, Petrocchi S, Russo S, Sirleto P, Roberti MC, Marino B, Angioni A, Dallapiccola B.

Am J Med Genet A. 2015 Mar;167A(3):579-86. doi: 10.1002/ajmg.a.36914. Epub 2015 Feb 7. Review.

PMID:
25663264
13.

Cryptic chromosomal abnormalities identified in children with congenital heart disease.

Richards AA, Santos LJ, Nichols HA, Crider BP, Elder FF, Hauser NS, Zinn AR, Garg V.

Pediatr Res. 2008 Oct;64(4):358-63. doi: 10.1203/PDR.0b013e31818095d0.

PMID:
18535492
14.

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.

15.

Assessment of copy number variations in 120 patients with Poland syndrome.

Vaccari CM, Tassano E, Torre M, Gimelli S, Divizia MT, Romanini MV, Bossi S, Musante I, Valle M, Senes F, Catena N, Bedeschi MF, Baban A, Calevo MG, Acquaviva M, Lerone M, Ravazzolo R, Puliti A.

BMC Med Genet. 2016 Nov 25;17(1):89.

16.

Identification of de novo mutations and rare variants in hypoplastic left heart syndrome.

Iascone M, Ciccone R, Galletti L, Marchetti D, Seddio F, Lincesso AR, Pezzoli L, Vetro A, Barachetti D, Boni L, Federici D, Soto AM, Comas JV, Ferrazzi P, Zuffardi O.

Clin Genet. 2012 Jun;81(6):542-54. doi: 10.1111/j.1399-0004.2011.01674.x. Epub 2011 Apr 25.

PMID:
21457232
17.

Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis.

Williams NM, Zaharieva I, Martin A, Langley K, Mantripragada K, Fossdal R, Stefansson H, Stefansson K, Magnusson P, Gudmundsson OO, Gustafsson O, Holmans P, Owen MJ, O'Donovan M, Thapar A.

Lancet. 2010 Oct 23;376(9750):1401-8. doi: 10.1016/S0140-6736(10)61109-9. Epub 2010 Sep 29.

18.

Hypoplastic left heart syndrome links to chromosomes 10q and 6q and is genetically related to bicuspid aortic valve.

Hinton RB, Martin LJ, Rame-Gowda S, Tabangin ME, Cripe LH, Benson DW.

J Am Coll Cardiol. 2009 Mar 24;53(12):1065-71. doi: 10.1016/j.jacc.2008.12.023.

19.

Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways.

Canton AP, Costa SS, Rodrigues TC, Bertola DR, Malaquias AC, Correa FA, Arnhold IJ, Rosenberg C, Jorge AA.

Eur J Endocrinol. 2014 Aug;171(2):253-62. doi: 10.1530/EJE-14-0232. Epub 2014 May 30.

20.

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

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