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| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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Material Type: Article
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Comprehensive genotype–phenotype analysis in 230 patients with tetralogy of FallotJournal of medical genetics, 2010-05, Vol.47 (5), p.321-331 [Peer Reviewed Journal]2010, Published by the BMJ Publishing Group Limited For permission to use, (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions. ;2015 INIST-CNRS ;Copyright: 2010 (c) 2010, Published by the BMJ Publishing Group Limited For permission to use, (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.2009.070391 ;PMID: 19948535 ;CODEN: JMDGAEFull text available |
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Serial Magnetic Resonance Imaging for Aortic Dilation in Tetralogy of Fallot With Pulmonary StenosisThe American journal of cardiology, 2023-03, Vol.191, p.92-100 [Peer Reviewed Journal]2022 Elsevier Inc. ;Copyright © 2022 Elsevier Inc. All rights reserved. ;2022. Elsevier Inc. ;ISSN: 0002-9149 ;EISSN: 1879-1913 ;DOI: 10.1016/j.amjcard.2022.12.015 ;PMID: 36669383Full text available |
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Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathwaysPLoS genetics, 2012-08, Vol.8 (8), p.e1002843-e1002843 [Peer Reviewed Journal]COPYRIGHT 2012 Public Library of Science ;COPYRIGHT 2012 Public Library of Science ;Silversides et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited: Silversides CK, Lionel AC, Costain G, Merico D, Migita O, et al. (2012) Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways. PLoS Genetics 8(8): e1002843. doi:10.1371/journal.pgen.1002843 ;2012 Silversides et al 2012 Silversides et al ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1002843 ;PMID: 22912587Full text available |
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Foetal echocardiographic assessment of tetralogy of Fallot and post-natal outcomeEuropean heart journal, 2008-06, Vol.29 (11), p.1432-1438 [Peer Reviewed Journal]Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2008. For permissions please email: journals.permissions@oxfordjournals.org 2008 ;ISSN: 0195-668X ;EISSN: 1522-9645 ;DOI: 10.1093/eurheartj/ehn194 ;PMID: 18467321Full text available |
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Chromosomal abnormalities among children born with conotruncal cardiac defectsBirth defects research. A Clinical and molecular teratology, 2009-01, Vol.85 (1), p.30-35 [Peer Reviewed Journal]Copyright © 2008 Wiley‐Liss, Inc. ;ISSN: 1542-0752 ;EISSN: 1542-0760 ;DOI: 10.1002/bdra.20541 ;PMID: 19067405Full text available |
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Exploring Shared Susceptibility between Two Neural Crest Cells Originating Conditions: Neuroblastoma and Congenital Heart DiseaseGenes, 2019-08, Vol.10 (9), p.663 [Peer Reviewed Journal]2019 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2019 by the authors. 2019 ;ISSN: 2073-4425 ;EISSN: 2073-4425 ;DOI: 10.3390/genes10090663 ;PMID: 31480262Full text available |
| 7 |
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Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defectsAmerican journal of medical genetics. Part A, 2014-02, Vol.164A (2), p.397-406 [Peer Reviewed Journal]2013 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.36291 ;PMID: 24127225Full text available |
| 8 |
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The Circulation in Fallot's TetralogyActa Medica Scandinavica, 1944-01, Vol.117 (5‐6), p.488-494 [Peer Reviewed Journal]1944 Association for the Publication of the Journal of Internal Medicine ;ISSN: 0001-6101 ;EISSN: 1365-2796 ;DOI: 10.1111/j.0954-6820.1944.tb03969.xFull text available |
| 9 |
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Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in pregnancy with major congenital malformationsTaiwanese journal of obstetrics & gynecology, 2011-03, Vol.50 (1), p.85-94 [Peer Reviewed Journal]2011 ;ISSN: 1028-4559 ;DOI: 10.1016/j.tjog.2010.05.001Full text available |
| 10 |
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Recombination aneusomy of chromosome 5 associated with multiple severe congenital malformationsClinical genetics, 1986-10, Vol.30 (4), p.285-292 [Peer Reviewed Journal]1987 INIST-CNRS ;ISSN: 0009-9163 ;EISSN: 1399-0004 ;DOI: 10.1111/j.1399-0004.1986.tb00608.x ;PMID: 3791677 ;CODEN: CLGNAYFull text available |
| 11 |
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Sirenomelia: a review on embryogenic enviromental theories, novel three-dimensional ultrasound imaging and first trimester diagnosis in a case of mosaic 69,XXX/46,XX fetusArchives of gynecology and obstetrics, 2013-07, Vol.288 (1), p.3-11 [Peer Reviewed Journal]Springer-Verlag Berlin Heidelberg 2013 ;Archives of Gynecology and Obstetrics is a copyright of Springer, (2013). All Rights Reserved. ;ISSN: 0932-0067 ;EISSN: 1432-0711 ;DOI: 10.1007/s00404-013-2847-3 ;PMID: 23625330Full text available |
| 12 |
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Ultrasound markers which indicate chromosome analysisThe ultrasound review of obstetrics and gynecology, 2003-12, Vol.3 (4), p.259 [Peer Reviewed Journal]Copyright CRC Press Dec 2003 ;ISSN: 1472-2240 ;EISSN: 1743-8950Full text available |
| 13 |
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22q11.2 deletion syndrome in patients admitted to a cardiac pediatric intensive care unit in BrazilAmerican journal of medical genetics. Part A, 2008-07, Vol.146A (13), p.1655-1661 [Peer Reviewed Journal]Copyright © 2008 Wiley‐Liss, Inc. ;2008 INIST-CNRS ;(c) 2008 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.32378 ;PMID: 18512234Full text available |
| 14 |
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Array comparative genomic hybridisation testing in CHDCardiology in the young, 2015-08, Vol.25 (6), p.1155-1172 [Peer Reviewed Journal]Cambridge University Press 2014 ;ISSN: 1047-9511 ;EISSN: 1467-1107 ;DOI: 10.1017/S1047951114001838 ;PMID: 25296170Full text available |
| 15 |
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Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: a cohort study of 3171 pregnanciesBJOG : an international journal of obstetrics and gynaecology, 2012-04, Vol.119 (5), p.614-625 [Peer Reviewed Journal]2012 The Authors BJOG An International Journal of Obstetrics and Gynaecology © 2012 RCOG ;2015 INIST-CNRS ;2012 The Authors BJOG An International Journal of Obstetrics and Gynaecology © 2012 RCOG. ;ISSN: 1470-0328 ;EISSN: 1471-0528 ;DOI: 10.1111/j.1471-0528.2012.03279.x ;PMID: 22313859 ;CODEN: BIOGFQFull text available |
| 16 |
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Transcatheter pulmonary valve replacement: evolving indications and applicationFuture cardiology, 2018-11, Vol.14 (6), p.511-524 [Peer Reviewed Journal]2018 Future Medicine Ltd ;Copyright Future Medicine Ltd Nov 2018 ;ISSN: 1479-6678 ;EISSN: 1744-8298 ;DOI: 10.2217/fca-2018-0065Full text available |
| 17 |
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Challenges in the diagnosis of fetal non-chromosomal abnormalities at 11-13 weeksPrenatal diagnosis, 2011-01, Vol.31 (1), p.90-102 [Peer Reviewed Journal]Copyright © 2011 John Wiley & Sons, Ltd. ;ISSN: 0197-3851 ;ISSN: 1097-0223 ;EISSN: 1097-0223 ;DOI: 10.1002/pd.2642 ;PMID: 21210483Full text available |
| 18 |
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The Contribution of Chromosomal Abnormalities to Congenital Heart Defects: A Population-Based StudyPediatric cardiology, 2011-12, Vol.32 (8), p.1147-1157 [Peer Reviewed Journal]Springer Science+Business Media, LLC (outside the USA) 2011 ;COPYRIGHT 2011 Springer ;ISSN: 0172-0643 ;EISSN: 1432-1971 ;DOI: 10.1007/s00246-011-0034-5 ;PMID: 21728077Full text available |
| 19 |
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Genomic imbalances in pediatric patients with chronic kidney diseaseThe Journal of clinical investigation, 2015-05, Vol.125 (5), p.2171-2178 [Peer Reviewed Journal]COPYRIGHT 2015 American Society for Clinical Investigation ;Copyright American Society for Clinical Investigation May 2015 ;Copyright © 2015, American Society for Clinical Investigation 2015 American Society for Clinical Investigation ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/JCI80877 ;PMID: 25893603Full text available |
| 20 |
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Integrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicismBMC medical genomics, 2021-02, Vol.14 (1), p.56-56, Article 56 [Peer Reviewed Journal]COPYRIGHT 2021 BioMed Central Ltd. ;2021. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s) 2021 ;ISSN: 1755-8794 ;EISSN: 1755-8794 ;DOI: 10.1186/s12920-021-00899-x ;PMID: 33632221Full text available |
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