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1 |
Material Type: Article
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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probandsNature genetics, 2017-11, Vol.49 (11), p.1593-1601 [Peer Reviewed Journal]COPYRIGHT 2017 Nature Publishing Group ;COPYRIGHT 2017 Nature Publishing Group ;Copyright Nature Publishing Group Nov 2017 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.3970 ;PMID: 28991257Full text available |
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2 |
Material Type: Book
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Etiology and Morphogenesis of Congenital Heart DiseaseISBN4-431-54627-8;ISBN4-431-54628-6Digital Resources/Online E-Resources |
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3 |
Material Type: Article
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Genomic analyses implicate noncoding de novo variants in congenital heart diseaseNature genetics, 2020-08, Vol.52 (8), p.769-777 [Peer Reviewed Journal]COPYRIGHT 2020 Nature Publishing Group ;Copyright Nature Publishing Group Aug 2020 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/s41588-020-0652-z ;PMID: 32601476Full text available |
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4 |
Material Type: Article
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EM-mosaic detects mosaic point mutations that contribute to congenital heart diseaseGenome medicine, 2020-04, Vol.12 (1), p.42-42, Article 42 [Peer Reviewed Journal]COPYRIGHT 2020 BioMed Central Ltd. ;COPYRIGHT 2020 BioMed Central Ltd. ;2020. 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) 2020 ;ISSN: 1756-994X ;EISSN: 1756-994X ;DOI: 10.1186/s13073-020-00738-1 ;PMID: 32349777Full text available |
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5 |
Material Type: Article
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Gene-based genome-wide association studies and meta-analyses of conotruncal heart defectsPloS one, 2019-07, Vol.14 (7), p.e0219926 [Peer Reviewed Journal]COPYRIGHT 2019 Public Library of Science ;COPYRIGHT 2019 Public Library of Science ;2019 Sewda et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2019 Sewda et al 2019 Sewda et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0219926 ;PMID: 31314787Full text available |
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6 |
Material Type: Article
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Congenital heart disease-causing Gata4 mutation displays functional deficits in vivoPLoS genetics, 2012-05, Vol.8 (5), p.e1002690 [Peer Reviewed Journal]COPYRIGHT 2012 Public Library of Science ;COPYRIGHT 2012 Public Library of Science ;2012 Misra 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: Misra C, Sachan N, McNally CR, Koenig SN, Nichols HA, et al. (2012) Congenital Heart Disease-Causing Gata4 Mutation Displays Functional Deficits In Vivo. PLoS Genet 8(5): e1002690. doi:10.1371/journal.pgen.1002690 ;Misra et al. 2012 ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1002690 ;PMID: 22589735Full text available |
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7 |
Material Type: Article
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Congenital Heart Disease: Entering a New Era of Human GeneticsCirculation research, 2014-02, Vol.114 (4), p.598-599 [Peer Reviewed Journal]2014 American Heart Association, Inc. ;ISSN: 0009-7330 ;EISSN: 1524-4571 ;DOI: 10.1161/CIRCRESAHA.113.303060 ;PMID: 24526674Full text available |
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8 |
Material Type: Book
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Etiology and Morphogenesis of Congenital Heart Disease : From Gene Function and Cellular interaction To Morphologyhttps://creativecommons.org/licenses/by-nc/4.0/legalcode ;ISBN: 9783662488454 ;ISBN: 3662488450 ;ISBN: 9784431546276 ;ISBN: 4431546278 ;EISBN: 9784431546283 ;EISBN: 4431546286 ;DOI: 10.1007/978-4-431-54628-3 ;OCLC: OCN: 953026830 ;OCLC: 953026830 ;OCLC: 1048185765Full text available |
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9 |
Material Type: Article
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The Psychiatric Cell Map Initiative: A Convergent Systems Biological Approach to Illuminating Key Molecular Pathways in Neuropsychiatric DisordersCell, 2018-07, Vol.174 (3), p.505-520 [Peer Reviewed Journal]2018 Elsevier Inc. ;Copyright © 2018 Elsevier Inc. All rights reserved. ;ISSN: 0092-8674 ;EISSN: 1097-4172 ;DOI: 10.1016/j.cell.2018.06.016 ;PMID: 30053424Full text available |
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10 |
Material Type: Article
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Genetic basis for congenital heart defects: Current knowledge : A scientific statement from the american heart association congenital cardiac defects committee, council on cardiovascular disease in the youngCirculation (New York, N.Y.), 2007-06, Vol.115 (23), p.3015-3027 [Peer Reviewed Journal]2007 INIST-CNRS ;ISSN: 0009-7322 ;EISSN: 1524-4539 ;DOI: 10.1161/CIRCULATIONAHA.106.183056 ;CODEN: CIRCAZFull text available |
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11 |
Material Type: Article
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Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease riskAmerican journal of human genetics, 2022-05, Vol.109 (5), p.961-966 [Peer Reviewed Journal]Copyright © 2022. Published by Elsevier Inc. ;2022. 2022 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2022.03.011 ;PMID: 35397206Full text available |
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12 |
Material Type: Article
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Hepatic venous blood and the development of pulmonary arteriovenous malformations in congenital heart diseaseCirculation (New York, N.Y.), 1995-09, Vol.92 (5), p.1217-1222 [Peer Reviewed Journal]1995 INIST-CNRS ;Copyright American Heart Association, Inc. Sep 1, 1995 ;ISSN: 0009-7322 ;EISSN: 1524-4539 ;DOI: 10.1161/01.cir.92.5.1217 ;PMID: 7648668 ;CODEN: CIRCAZFull text available |
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13 |
Material Type: Article
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Abstract 11332: Integration of Protein Interactome Networks with Congenital Heart Disease Variants Reveals Candidate Disease GenesCirculation (New York, N.Y.), 2021-11, Vol.144 (Suppl_1) [Peer Reviewed Journal]ISSN: 0009-7322 ;EISSN: 1524-4539 ;DOI: 10.1161/circ.144.suppl_1.11332Full text available |
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14 |
Material Type: Article
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De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart DiseaseCirculation. Genomic and precision medicine, 2020-08, Vol.13 (4), p.e002836-e002836 [Peer Reviewed Journal]2020 The Authors. 2020 ;ISSN: 2574-8300 ;EISSN: 2574-8300 ;DOI: 10.1161/circgen.119.002836 ;PMID: 32812804Full text available |
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15 |
Material Type: Article
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Left-right asymmetry and cardiac looping: Implications for cardiac development and congenital heart diseaseAmerican journal of medical genetics, 2000, Vol.97 (4), p.271-279 [Peer Reviewed Journal]Copyright © 2001 Wiley‐Liss, Inc. ;ISSN: 0148-7299 ;EISSN: 1096-8628 ;DOI: 10.1002/1096-8628(200024)97:4<271::AID-AJMG1277>3.0.CO;2-O ;PMID: 11376438Full text available |
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16 |
Material Type: Article
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Genetic assembly of the heart: implications for congenital heart diseaseAnnual review of physiology, 2001-01, Vol.63 (1), p.451-469 [Peer Reviewed Journal]Copyright Annual Reviews, Inc. 2001 ;ISSN: 0066-4278 ;EISSN: 1545-1585 ;DOI: 10.1146/annurev.physiol.63.1.451 ;PMID: 11181963Full text available |
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17 |
Material Type: Article
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Abstract 197: Transcription Factor Interactome in Human iPS-derived Cardiac Progenitors is Enriched for Proteins Associated With Congenital Heart DiseaseCirculation research, 2019-08, Vol.125 (Suppl_1) [Peer Reviewed Journal]ISSN: 0009-7330 ;EISSN: 1524-4571 ;DOI: 10.1161/res.125.suppl_1.197Full text available |
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18 |
Material Type: Article
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HAND Proteins: Molecular Mediators of Cardiac Development and Congenital Heart DiseaseTrends in cardiovascular medicine, 1999-01, Vol.9 (1), p.11-18 [Peer Reviewed Journal]1999 Elsevier Science Inc. ;ISSN: 1050-1738 ;EISSN: 1873-2615 ;DOI: 10.1016/S1050-1738(98)00033-4 ;PMID: 10189962Full text available |
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19 |
Material Type: Article
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Mutations in NOTCH1 cause aortic valve diseaseNature, 2005-09, Vol.437 (7056), p.270-274 [Peer Reviewed Journal]2005 INIST-CNRS ;COPYRIGHT 2005 Nature Publishing Group ;Copyright Nature Publishing Group Sep 8, 2005 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/nature03940 ;PMID: 16025100 ;CODEN: NATUASFull text available |
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20 |
Material Type: Article
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Long telomeres protect against age-dependent cardiac disease caused by NOTCH1 haploinsufficiencyThe Journal of clinical investigation, 2017-05, Vol.127 (5), p.1683-1688 [Peer Reviewed Journal]COPYRIGHT 2017 American Society for Clinical Investigation ;Copyright American Society for Clinical Investigation May 2017 ;Copyright © 2017, American Society for Clinical Investigation 2017 American Society for Clinical Investigation ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/JCI90338 ;PMID: 28346225Full text available |