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1 |
Material Type: Article
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The developmental genetics of congenital heart diseaseNature, 2008-02, Vol.451 (7181), p.943-948 [Peer Reviewed Journal]COPYRIGHT 2008 Nature Publishing Group ;Copyright Nature Publishing Group Feb 21, 2008 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;EISSN: 1476-4679 ;DOI: 10.1038/nature06801 ;PMID: 18288184 ;CODEN: NATUASFull text available |
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Material Type: Article
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Identification of a Divergent Lineage Porcine Pestivirus in Nursing Piglets with Congenital Tremors and Reproduction of Disease following Experimental InoculationPloS one, 2016-02, Vol.11 (2), p.e0150104-e0150104 [Peer Reviewed Journal]COPYRIGHT 2016 Public Library of Science ;COPYRIGHT 2016 Public Library of Science ;2016 Arruda 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. ;2016 Arruda et al 2016 Arruda et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0150104 ;PMID: 26909691Full text available |
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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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Material Type: Article
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Cell therapy of congenital corneal diseases with umbilical mesenchymal stem cells: lumican null micePloS one, 2010-05, Vol.5 (5), p.e10707-e10707 [Peer Reviewed Journal]COPYRIGHT 2010 Public Library of Science ;COPYRIGHT 2010 Public Library of Science ;2010 Liu et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: https://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. ;Liu et al. 2010 ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0010707 ;PMID: 20502663Full text available |
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Material Type: Article
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A Mutation in LTBP2 Causes Congenital Glaucoma in Domestic Cats (Felis catus)PloS one, 2016-05, Vol.11 (5), p.e0154412-e0154412 [Peer Reviewed Journal]COPYRIGHT 2016 Public Library of Science ;COPYRIGHT 2016 Public Library of Science ;This is an open access article, free of all copyright, and may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. The work is made available under the Creative Commons CC0 public domain dedication: https://creativecommons.org/publicdomain/zero/1.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0154412 ;PMID: 27149523Full text available |
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Material Type: Article
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The developmental biology of genetic Notch disordersDevelopment (Cambridge), 2017-05, Vol.144 (10), p.1743-1763 [Peer Reviewed Journal]2017. Published by The Company of Biologists Ltd. ;Copyright The Company of Biologists Ltd May 15, 2017 ;ISSN: 0950-1991 ;ISSN: 1477-9129 ;EISSN: 1477-9129 ;DOI: 10.1242/dev.148007 ;PMID: 28512196Full text available |
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Material Type: Article
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Compound heterozygous mutation of the ASXL3 gene causes autosomal recessive congenital heart diseaseHuman genetics, 2021-02, Vol.140 (2), p.333-348 [Peer Reviewed Journal]Springer-Verlag GmbH Germany, part of Springer Nature 2020 ;COPYRIGHT 2020 Springer ;Springer-Verlag GmbH Germany, part of Springer Nature 2020. ;ISSN: 0340-6717 ;EISSN: 1432-1203 ;DOI: 10.1007/s00439-020-02200-z ;PMID: 32696347Full text available |
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8 |
Material Type: Article
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LOF variants identifying candidate genes of laterality defects patients with congenital heart diseasePLoS genetics, 2022-12, Vol.18 (12), p.e1010530-e1010530 [Peer Reviewed Journal]Copyright: © 2022 Liu 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. ;COPYRIGHT 2022 Public Library of Science ;2022 Liu et al 2022 Liu et al ;2022 Liu 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. ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1010530 ;PMID: 36459505Full text available |
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Material Type: Article
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Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformationsNature genetics, 2017-04, Vol.49 (4), p.613-617 [Peer Reviewed Journal]COPYRIGHT 2017 Nature Publishing Group ;COPYRIGHT 2017 Nature Publishing Group ;Copyright Nature Publishing Group Apr 2017 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.3815 ;PMID: 28288113Full text available |
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10 |
Material Type: Article
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Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and DystroglycanopathyAmerican journal of human genetics, 2017-03, Vol.100 (3), p.537-545 [Peer Reviewed Journal]2017 ;Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Mar 2, 2017 ;2017 The Author(s) 2017 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2017.01.019 ;PMID: 28190459Full text available |
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11 |
Material Type: Article
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Mutations of small heat shock proteins and human congenital diseasesBiochemistry (Moscow), 2012-12, Vol.77 (13), p.1500-1514 [Peer Reviewed Journal]Pleiades Publishing, Ltd. 2012 ;COPYRIGHT 2012 Springer ;ISSN: 0006-2979 ;EISSN: 1608-3040 ;DOI: 10.1134/S0006297912130081 ;PMID: 23379525Full text available |
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12 |
Material Type: Article
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Modulation of ADAR mRNA expression in patients with congenital heart defectsPloS one, 2019-04, Vol.14 (4), p.e0200968-e0200968 [Peer Reviewed Journal]COPYRIGHT 2019 Public Library of Science ;COPYRIGHT 2019 Public Library of Science ;2019 Altaf 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 Altaf et al 2019 Altaf et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0200968 ;PMID: 31039163Full text available |
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13 |
Material Type: Article
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Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesisThe Journal of clinical investigation, 2019-07, Vol.129 (7), p.2841-2855 [Peer Reviewed Journal]COPYRIGHT 2019 American Society for Clinical Investigation ;COPYRIGHT 2019 American Society for Clinical Investigation ;Copyright American Society for Clinical Investigation Jul 2019 ;2019 American Society for Clinical Investigation 2019 American Society for Clinical Investigation ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/JCI98890 ;PMID: 31094706Full text available |
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Material Type: Article
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Global Nav1.7 knockout mice recapitulate the phenotype of human congenital indifference to painPloS one, 2014-09, Vol.9 (9), p.e105895-e105895 [Peer Reviewed Journal]COPYRIGHT 2014 Public Library of Science ;COPYRIGHT 2014 Public Library of Science ;2014 Gingras 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. ;2014 Gingras et al 2014 Gingras et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0105895 ;PMID: 25188265Full text available |
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15 |
Material Type: Article
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Attenuation of congenital portosystemic shunt reduces inflammation in dogsPloS one, 2015-02, Vol.10 (2), p.e0117557-e0117557 [Peer Reviewed Journal]COPYRIGHT 2015 Public Library of Science ;COPYRIGHT 2015 Public Library of Science ;2015 Tivers 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. ;2015 Tivers et al 2015 Tivers et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0117557 ;PMID: 25658922Full text available |
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16 |
Material Type: Article
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The duality of human oncoproteins: drivers of cancer and congenital disordersNature reviews. Cancer, 2020-07, Vol.20 (7), p.383-397 [Peer Reviewed Journal]COPYRIGHT 2020 Nature Publishing Group ;Springer Nature Limited 2020. ;ISSN: 1474-175X ;EISSN: 1474-1768 ;DOI: 10.1038/s41568-020-0256-z ;PMID: 32341551Full text available |
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17 |
Material Type: Article
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A role for TENM1 mutations in congenital general anosmiaClinical genetics, 2016-09, Vol.90 (3), p.211-219 [Peer Reviewed Journal]2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd ;2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. ;ISSN: 0009-9163 ;EISSN: 1399-0004 ;DOI: 10.1111/cge.12782 ;PMID: 27040985Full text available |
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18 |
Material Type: Article
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Concurrent pulmonary hypoplasia and congenital lobar emphysema in a young dog with tension pneumothorax: a rare congenital pulmonary anomalyActa veterinaria scandinavica, 2019-07, Vol.61 (1), p.37-37, Article 37 [Peer Reviewed Journal]COPYRIGHT 2019 BioMed Central Ltd. ;The Author(s) 2019 ;ISSN: 1751-0147 ;ISSN: 0044-605X ;EISSN: 1751-0147 ;DOI: 10.1186/s13028-019-0472-2 ;PMID: 31349870Full text available |
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19 |
Material Type: Article
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Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart diseaseGenome medicine, 2020-08, Vol.12 (1), p.76-13, Article 76 [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/s13073-020-00772-z ;PMID: 32859249Full text available |
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Material Type: Article
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Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterningProceedings of the National Academy of Sciences - PNAS, 2011-02, Vol.108 (7), p.2915-2920 [Peer Reviewed Journal]Copyright © 1993-2008 National Academy of Sciences of the United States of America ;Copyright National Academy of Sciences Feb 15, 2011 ;ISSN: 0027-8424 ;EISSN: 1091-6490 ;DOI: 10.1073/pnas.1019645108 ;PMID: 21282601Full text available |