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| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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The complex genetics of hypoplastic left heart syndromeNature genetics, 2017-07, Vol.49 (7), p.1152-1159 [Peer Reviewed Journal]COPYRIGHT 2017 Nature Publishing Group ;COPYRIGHT 2017 Nature Publishing Group ;Copyright Nature Publishing Group Jul 2017 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.3870 ;PMID: 28530678Full text available |
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Sequential Defects in Cardiac Lineage Commitment and Maturation Cause Hypoplastic Left Heart SyndromeCirculation (New York, N.Y.), 2021-10, Vol.144 (17), p.1409-1428 [Peer Reviewed Journal]2021 The Authors. 2021 ;ISSN: 0009-7322 ;ISSN: 1524-4539 ;EISSN: 1524-4539 ;DOI: 10.1161/CIRCULATIONAHA.121.056198 ;PMID: 34694888Full text available |
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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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Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their familiesGenetics in medicine, 2016-09, Vol.18 (9), p.914-923 [Peer Reviewed Journal]Copyright Nature Publishing Group Sep 2016 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2015.193 ;PMID: 26820064Full text available |
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Intrinsic myocardial defects underlie an Rbfox-deficient zebrafish model of hypoplastic left heart syndromeNature communications, 2022-10, Vol.13 (1), p.5877-5877, Article 5877 [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: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-022-32982-x ;PMID: 36198703Full text available |
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KMT2D-NOTCH Mediates Coronary Abnormalities in Hypoplastic Left Heart SyndromeCirculation research, 2022-07, Vol.131 (3), p.280-282 [Peer Reviewed Journal]ISSN: 0009-7330 ;EISSN: 1524-4571 ;DOI: 10.1161/CIRCRESAHA.122.320783 ;PMID: 35762338Full text available |
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Impact of MYH6 variants in hypoplastic left heart syndromePhysiological genomics, 2016-12, Vol.48 (12), p.912-921 [Peer Reviewed Journal]Copyright © 2016 the American Physiological Society. ;Copyright © 2016 the American Physiological Society 2016 American Physiological Society ;ISSN: 1094-8341 ;EISSN: 1531-2267 ;DOI: 10.1152/physiolgenomics.00091.2016 ;PMID: 27789736Full text available |
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A mouse model of hypoplastic left heart syndrome demonstrating left heart hypoplasia and retrograde aortic arch flowDisease models & mechanisms, 2021-11, Vol.14 (11) [Peer Reviewed Journal]2021. Published by The Company of Biologists Ltd. ;2021. This work is licensed under https://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. ;2021. Published by The Company of Biologists Ltd 2021 ;ISSN: 1754-8403 ;EISSN: 1754-8411 ;DOI: 10.1242/dmm.049077 ;PMID: 34514502Full text available |
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Compound heterozygous NOTCH1 mutations underlie impaired cardiogenesis in a patient with hypoplastic left heart syndromeHuman genetics, 2015-09, Vol.134 (9), p.1003-1011 [Peer Reviewed Journal]Springer-Verlag Berlin Heidelberg 2015 ;COPYRIGHT 2015 Springer ;ISSN: 0340-6717 ;EISSN: 1432-1203 ;DOI: 10.1007/s00439-015-1582-1 ;PMID: 26164125Full text available |
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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 diseaseHuman genetics, 2014-01, Vol.133 (1), p.11-27 [Peer Reviewed Journal]Springer-Verlag Berlin Heidelberg 2013 ;COPYRIGHT 2014 Springer ;Springer-Verlag Berlin Heidelberg 2014 ;Springer-Verlag Berlin Heidelberg 2013 2013 ;ISSN: 0340-6717 ;EISSN: 1432-1203 ;DOI: 10.1007/s00439-013-1353-9 ;PMID: 23979609Full text available |
| 11 |
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Myocardial Biomechanics and the Consequent Differentially Expressed Genes of the Left Atrial Ligation Chick Embryonic Model of Hypoplastic Left Heart SyndromeAnnals of biomedical engineering, 2023-05, Vol.51 (5), p.1063-1078 [Peer Reviewed Journal]The Author(s) 2023 ;ISSN: 0090-6964 ;EISSN: 1573-9686 ;DOI: 10.1007/s10439-023-03187-0Full text available |
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Cardiac defects contribute to the pathology of spinal muscular atrophy modelsHuman molecular genetics, 2010-10, Vol.19 (20), p.4059-4071 [Peer Reviewed Journal]2015 INIST-CNRS ;ISSN: 0964-6906 ;EISSN: 1460-2083 ;DOI: 10.1093/hmg/ddq329 ;PMID: 20696672Full text available |
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Rbfox2 function in RNA metabolism is impaired in hypoplastic left heart syndrome patient heartsScientific reports, 2016-08, Vol.6 (1), p.30896-30896, Article 30896 [Peer Reviewed Journal]Copyright Nature Publishing Group Aug 2016 ;Copyright © 2016, The Author(s) 2016 The Author(s) ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/srep30896 ;PMID: 27485310Full text available |
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Hypoplastic Left Heart Syndrome Is HeritableJournal of the American College of Cardiology, 2007-10, Vol.50 (16), p.1590-1595 [Peer Reviewed Journal]American College of Cardiology Foundation ;2007 American College of Cardiology Foundation ;Copyright Elsevier Limited Oct 16, 2007 ;ISSN: 0735-1097 ;EISSN: 1558-3597 ;DOI: 10.1016/j.jacc.2007.07.021 ;PMID: 17936159Full text available |
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Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndromeeLife, 2020-10, Vol.9 [Peer Reviewed Journal]2020, Theis et al. ;COPYRIGHT 2020 eLife Science Publications, Ltd. ;2020, Theis et al 2020 Theis et al ;ISSN: 2050-084X ;EISSN: 2050-084X ;DOI: 10.7554/eLife.59554 ;PMID: 33006316Full text available |
| 16 |
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The HAND1 frameshift A126FS mutation does not cause hypoplastic left heart syndrome in miceCardiovascular research, 2017-12, Vol.113 (14), p.1732-1742 [Peer Reviewed Journal]Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2017. For permissions, please email: journals.permissions@oup.com. ;Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2017. For permissions, please email: journals.permissions@oup.com. 2017 ;ISSN: 0008-6363 ;EISSN: 1755-3245 ;DOI: 10.1093/cvr/cvx166 ;PMID: 29016838Full text available |
| 17 |
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Establishment of NCHi009-A, an iPSC line from a patient with hypoplastic left heart syndrome (HLHS) carrying a heterozygous NOTCH1 mutationStem cell research, 2023-02, Vol.66, p.103013-103013, Article 103013 [Peer Reviewed Journal]2022 The Authors ;Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved. ;ISSN: 1873-5061 ;EISSN: 1876-7753 ;DOI: 10.1016/j.scr.2022.103013 ;PMID: 36599283Full text available |
| 18 |
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Hypoplastic left heart syndromeThe Lancet (British edition), 2009-08, Vol.374 (9689), p.551-564 [Peer Reviewed Journal]Elsevier Ltd ;2009 Elsevier Ltd ;2009 INIST-CNRS ;Copyright Elsevier Limited Aug 15-Aug 21, 2009 ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(09)60563-8 ;PMID: 19683641 ;CODEN: LANCAOFull text available |
| 19 |
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Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrityeLife, 2023-07, Vol.12 [Peer Reviewed Journal]2023, Birker, Ge, Kirkland et al. ;COPYRIGHT 2023 eLife Science Publications, Ltd. ;2023, Birker, Ge, Kirkland et al. This work is published under https://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. ;2023, Birker, Ge, Kirkland et al 2023 Birker, Ge, Kirkland et al ;ISSN: 2050-084X ;EISSN: 2050-084X ;DOI: 10.7554/eLife.83385 ;PMID: 37404133Full text available |
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The risk for four specific congenital heart defects associated with assisted reproductive techniques: a population-based evaluationHuman reproduction (Oxford), 2013-02, Vol.28 (2), p.367-374 [Peer Reviewed Journal]The Author 2012. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oup.com 2012 ;ISSN: 0268-1161 ;EISSN: 1460-2350 ;DOI: 10.1093/humrep/des400 ;PMID: 23178272Full text available |
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