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| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of FallotCirculation research, 2019-02, Vol.124 (4), p.553-563 [Peer Reviewed Journal]2019 American Heart Association, Inc. ;ISSN: 0009-7330 ;EISSN: 1524-4571 ;DOI: 10.1161/CIRCRESAHA.118.313250 ;PMID: 30582441Full text available |
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Jagged1 (JAG1): Structure, expression, and disease associationsGene, 2016-01, Vol.576 (1 Pt 3), p.381 [Peer Reviewed Journal]Copyright © 2015 Elsevier B.V. All rights reserved. ;EISSN: 1879-0038 ;DOI: 10.1016/j.gene.2015.10.065 ;PMID: 26548814Digital Resources/Online E-Resources |
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Integrated multi-omic characterization of congenital heart diseaseNature (London), 2022-08, Vol.608 (7921), p.181-191 [Peer Reviewed Journal]2022. The Author(s), under exclusive licence to Springer Nature Limited. ;Copyright Nature Publishing Group Aug 4, 2022 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/s41586-022-04989-3 ;PMID: 35732239Full text available |
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Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of FallotGenetics in medicine, 2019-04, Vol.21 (4), p.1001-1007 [Peer Reviewed Journal]2018. This work is published 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) 2018 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-018-0260-9 ;PMID: 30232381Full text available |
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Human hepatic organoids for the analysis of human genetic diseasesJCI insight, 2017-09, Vol.2 (17) [Peer Reviewed Journal]Copyright © 2017, American Society for Clinical Investigation 2017 American Society for Clinical Investigation ;ISSN: 2379-3708 ;EISSN: 2379-3708 ;DOI: 10.1172/jci.insight.94954 ;PMID: 28878125Full text available |
| 6 |
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Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of FallotGenetics in medicine, 2021-10, Vol.23 (10), p.1952-1960 [Peer Reviewed Journal]2021 The Author(s) ;2021. The Author(s). ;The Author(s) 2021. corrected publication 2021. This work is published 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, corrected publication 2021 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-021-01212-y ;PMID: 34113005Full text available |
| 7 |
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22q11.2 deletion syndrome and congenital heart diseaseAmerican journal of medical genetics. Part C, Seminars in medical genetics, 2020-03, Vol.184 (1), p.642020 Wiley Periodicals, Inc. ;EISSN: 1552-4876 ;DOI: 10.1002/ajmg.c.31774 ;PMID: 32049433Digital Resources/Online E-Resources |
| 8 |
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Identification of a novel GATA binding protein 5 variant (c.830C>T/p.P277L) damaging the nuclear translocation and causing tetralogy of FallotQJM : An International Journal of Medicine, 2022-04, Vol.115 (4), p.256-258 [Peer Reviewed Journal]The Author(s) 2021. Published by Oxford University Press on behalf of the Association of Physicians. All rights reserved. For permissions, please email: journals.permissions@oup.com 2021 ;ISSN: 1460-2725 ;EISSN: 1460-2393 ;DOI: 10.1093/qjmed/hcab317 ;PMID: 34904678Full text available |
| 9 |
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De novo start-loss variant in HIRA in patient with DiGeorge-like syndromeClinical genetics, 2024-06, Vol.105 (6), p.683 [Peer Reviewed Journal]2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. ;EISSN: 1399-0004 ;DOI: 10.1111/cge.14521 ;PMID: 38511226Digital Resources/Online E-Resources |
| 10 |
Material Type: Article
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Hot Topics in Tetralogy of FallotJournal of the American College of Cardiology, 2013-12, Vol.62 (23), p.2155-2166 [Peer Reviewed Journal]American College of Cardiology Foundation ;2013 American College of Cardiology Foundation ;2015 INIST-CNRS ;Copyright © 2013 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved. ;Copyright Elsevier Limited Dec 10, 2013 ;ISSN: 0735-1097 ;EISSN: 1558-3597 ;DOI: 10.1016/j.jacc.2013.07.100 ;PMID: 24076489 ;CODEN: JACCDIFull text available |
| 11 |
Material Type: Article
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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 |
| 12 |
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Joint analysis of functionally related genes yields further candidates associated with Tetralogy of FallotJournal of human genetics, 2022-10, Vol.67 (10), p.613-615 [Peer Reviewed Journal]2022. The Author(s). ;The Author(s) 2022. This work is published 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) 2022 ;ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1038/s10038-022-01051-y ;PMID: 35718831Full text available |
| 13 |
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Comparative DNA methylation and gene expression analysis identifies novel genes for structural congenital heart diseasesCardiovascular research, 2016-10, Vol.112 (1), p.464-477 [Peer Reviewed Journal]Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2016. For permissions please email: journals.permissions@oup.com. ;ISSN: 0008-6363 ;EISSN: 1755-3245 ;DOI: 10.1093/cvr/cvw195 ;PMID: 27496870Full text available |
| 14 |
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Substrate‐selective protein ectodomain shedding by ADAM17 and iRhom2 depends on their juxtamembrane and transmembrane domainsThe FASEB journal, 2020-04, Vol.34 (4), p.4956-4969 [Peer Reviewed Journal]2020 Federation of American Societies for Experimental Biology ;2020 Federation of American Societies for Experimental Biology. ;ISSN: 0892-6638 ;EISSN: 1530-6860 ;DOI: 10.1096/fj.201902649R ;PMID: 32103528Full text available |
| 15 |
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22q11.2 deletion syndrome is associated with increased mortality in adults with tetralogy of Fallot and pulmonary atresia with ventricular septal defectInternational journal of cardiology, 2020-05, Vol.306, p.56 [Peer Reviewed Journal]Copyright © 2020. Published by Elsevier B.V. ;EISSN: 1874-1754 ;DOI: 10.1016/j.ijcard.2020.02.064 ;PMID: 32145937Digital Resources/Online E-Resources |
| 16 |
Material Type: Article
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Alternative splicing signatures of congenital heart disease and induced pluripotent stem cell-derived cardiomyocytes from congenital heart disease patientsMedicine (Baltimore), 2022-08, Vol.101 (33), p.e30123-e30123 [Peer Reviewed Journal]Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc. ;Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc. 2022 ;ISSN: 1536-5964 ;ISSN: 0025-7974 ;EISSN: 1536-5964 ;DOI: 10.1097/MD.0000000000030123 ;PMID: 35984151Full text available |
| 17 |
Material Type: Article
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Patients with repaired tetralogy of Fallot and the HIF1A1744C/T variant have increased imaging markers of diffuse myocardial fibrosisInternational journal of cardiology, 2022-03, Vol.350, p.33 [Peer Reviewed Journal]Copyright © 2021 Elsevier B.V. All rights reserved. ;EISSN: 1874-1754 ;DOI: 10.1016/j.ijcard.2021.12.047 ;PMID: 34973973Digital Resources/Online E-Resources |
| 18 |
Material Type: Article
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Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of FallotHuman molecular genetics, 2013-04, Vol.22 (7), p.1473-1481 [Peer Reviewed Journal]The Author 2013. Published by Oxford University Press. 2013 ;ISSN: 0964-6906 ;EISSN: 1460-2083 ;DOI: 10.1093/hmg/dds552 ;PMID: 23297363Full text available |
| 19 |
Material Type: Article
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Family-based whole-genome sequencing identifies compound heterozygous protein-coding and noncoding mutations in tetralogy of FallotGene, 2020-05, Vol.741, p.144555 [Peer Reviewed Journal]Copyright © 2020 Elsevier B.V. All rights reserved. ;EISSN: 1879-0038 ;DOI: 10.1016/j.gene.2020.144555 ;PMID: 32165302Digital Resources/Online E-Resources |
| 20 |
Material Type: Article
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Altered microRNA and target gene expression related to Tetralogy of FallotScientific reports, 2019-12, Vol.9 (1), p.19063-12, Article 19063 [Peer Reviewed Journal]2019. This work is published 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) 2019 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-019-55570-4 ;PMID: 31836860Full text available |
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