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Articles Published Processes
12/22/2017 1:16:01 AM | Browse: 1152 | Download: 1781
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Received |
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2017-03-24 09:10 |
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Peer-Review Started |
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2017-03-24 17:15 |
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To Make the First Decision |
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2017-07-10 00:50 |
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Return for Revision |
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2017-07-17 09:15 |
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Revised |
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2017-08-21 08:14 |
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Second Decision |
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2017-09-08 01:21 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2017-09-13 20:03 |
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Articles in Press |
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2017-09-13 20:03 |
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Publication Fee Transferred |
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2017-10-27 02:59 |
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Edit the Manuscript by Language Editor |
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Typeset the Manuscript |
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2017-12-19 08:30 |
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Publish the Manuscript Online |
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2017-12-22 01:16 |
ISSN |
1949-8462 (online) |
Open Access |
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ |
Copyright |
© The Author(s) 2017. Published by Baishideng Publishing Group Inc. All rights reserved. |
Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
Website |
http://www.wjgnet.com |
Category |
Cardiac & Cardiovascular Systems |
Manuscript Type |
Case Report |
Article Title |
Transposition of the great arteries - a phenotype associated with 16p11.2 duplications?
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Manuscript Source |
Unsolicited Manuscript |
All Author List |
Zarmiga Karunanithi, Else Marie Vestergaard and Mette H Lauridsen |
Funding Agency and Grant Number |
Funding Agency |
Grant Number |
Helga and Peter Kornings Fund |
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Corresponding Author |
Mette H Lauridsen, MD, Department of Pediatrics and Adolescent Medicine, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, Aarhus N 8200, Denmark. lauridsen.mette@auh.rm.dk |
Key Words |
Transposition of the great arteries; Copy number variation; Genetics; 16p11.2; Microduplication |
Core Tip |
Rare copy number variations may be of significance to the aetiology of transposition of the great arteries. This paper reports, for the first time, the finding of a 16p11.2 microduplication in a patient with transposition of the great arteries. Recognizing a possible genetic association to transposition of the great arteries will spur investigations into associated phenotypic effects such as developmental delays, thus allowing for earlier identification and treatment. We recommend that chromosomal microarray be considered part of the diagnostic work-up in patients with transposition of the great arteries. |
Publish Date |
2017-12-22 01:16 |
Citation |
Karunanithi Z, Vestergaard EM, Lauridsen MH. Transposition of the great arteries - a phenotype associated with 16p11.2 duplications? World J Cardiol 2017; 9(12): 848-852 |
URL |
http://www.wjgnet.com/1949-8462/full/v9/i12/848.htm |
DOI |
http://dx.doi.org/10.4330/wjc.v9.i12.848 |
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