MARC details
| 000 -LEADER |
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| fixed length control field |
04124naaaa2200409uu 4500 |
| 001 - CONTROL NUMBER |
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| control field |
https://directory.doabooks.org/handle/20.500.12854/44409 |
| 005 - DATE AND TIME OF LATEST TRANSACTION |
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| control field |
20220714191045.0 |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
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| International Standard Book Number |
978-2-88945-281-1 |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
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| International Standard Book Number |
9782889452811 |
| 024 7# - OTHER STANDARD IDENTIFIER |
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| Standard number or code |
10.3389/978-2-88945-281-1 |
| Terms of availability |
doi |
| 041 0# - LANGUAGE CODE |
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| Language code of text/sound track or separate title |
English |
| 042 ## - AUTHENTICATION CODE |
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| Authentication code |
dc |
| 100 1# - MAIN ENTRY--PERSONAL NAME |
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| Personal name |
Carlo Napolitano |
| Relator code |
auth |
| 9 (RLIN) |
1613254 |
| 245 10 - TITLE STATEMENT |
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| Title |
Current Challenges in Cardiovascular Molecular Diagnostics |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. (IMPRINT) |
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| Name of publisher, distributor, etc |
Frontiers Media SA |
| Date of publication, distribution, etc |
2017 |
| 300 ## - PHYSICAL DESCRIPTION |
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| Extent |
1 electronic resource (128 p.) |
| 506 0# - RESTRICTIONS ON ACCESS NOTE |
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| Terms governing access |
Open Access |
| Source of term |
star |
| Standardized terminology for access restriction |
Unrestricted online access |
| 520 ## - SUMMARY, ETC. |
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| Summary, etc |
The field of cardiovascular genetics has tremendously benefited from the recent application of massive parallel sequencing technology also referred to as next generation sequencing (NGS). However, along with the discovery of additional genes associated with human cardiac diseases, the analysis of large dataset of genetic information uncovered a much more complex and variegated landscape, which often departs from the comfort zone of the monogenic Mendelian diseases image that clinical molecular geneticists have been well acquainted with for many decades. It is now clear that, in addition to highly penetrant genetic variants, which in isolation are able to recapitulate the full clinical presentation when expressed in animal models, we are now aware that a small but significant fraction of subjects presenting with cardiac muscle diseases such as cardiomyopathies or primary arrhythmias such as long QT syndrome (LQTS), may harbor at least two deleterious variants in the same gene (compound heterozygous) or in different gene (double heterozygous). Although the clinical presentation in subjects with more than one deleterious variant appears to be more severe and with an earlier disease onset, it somehow changes the viewpoint of clinical molecular geneticists whose aim is to identify all possible genetic contributors to a human condition. In this light, the employment in clinical diagnostics of the NGS technology, allowing the simultaneous interrogation of a DNA target spanning from large panel of genes up to the entire genome, will definitely aid at uncovering all such contributors, which will have to be tested functionally to confirm their role in human cardiac conditions. The uncovering of all clinically relevant deleterious changes associated with a cardiovascular disease would probably increase our understanding of the clinical variability commonly occurring among affected family relatives, and potentially provide with unexpected therapeutic targets for the treatment of symptoms related to the presence of "accessory" deleterious genetic variants other than the key molecular culprit. The objective of this Research Topic is to explore the current challenges presenting to the cardiovascular genetics providers, such as clinical geneticists, genetic counselors, clinical molecular geneticists and molecular pathologists involved in the diagnosis, counseling, testing and interpretation of genetic tests results for the comprehensive management of patients affected by cardiovascular genetic disorders. |
| 540 ## - TERMS GOVERNING USE AND REPRODUCTION NOTE |
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| Terms governing use and reproduction |
Creative Commons |
| -- |
https://creativecommons.org/licenses/by/4.0/ |
| -- |
cc |
| -- |
https://creativecommons.org/licenses/by/4.0/ |
| 546 ## - LANGUAGE NOTE |
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| Language note |
English |
| 653 ## - INDEX TERM--UNCONTROLLED |
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| Uncontrolled term |
genetic variants |
| 653 ## - INDEX TERM--UNCONTROLLED |
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| Uncontrolled term |
Cardiovascular Diseases |
| 653 ## - INDEX TERM--UNCONTROLLED |
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| Uncontrolled term |
Genetic Testing |
| 653 ## - INDEX TERM--UNCONTROLLED |
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| Uncontrolled term |
channelopathy |
| 653 ## - INDEX TERM--UNCONTROLLED |
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| Uncontrolled term |
variant interpretation |
| 653 ## - INDEX TERM--UNCONTROLLED |
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| Uncontrolled term |
NGS |
| 653 ## - INDEX TERM--UNCONTROLLED |
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| Uncontrolled term |
Sudden cardiac death |
| 653 ## - INDEX TERM--UNCONTROLLED |
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| Uncontrolled term |
cardiomyopathy |
| 653 ## - INDEX TERM--UNCONTROLLED |
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| Uncontrolled term |
Cardiovascular genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
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| Personal name |
Jeffrey A. Towbin |
| Relator code |
auth |
| 9 (RLIN) |
1613255 |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Guia Guffanti |
| Relator code |
auth |
| 9 (RLIN) |
1613256 |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Luisa Mestroni |
| Relator code |
auth |
| 9 (RLIN) |
1613257 |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Valeria Novelli |
| Relator code |
auth |
| 9 (RLIN) |
1613258 |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Matteo Vatta |
| Relator code |
auth |
| 9 (RLIN) |
1613259 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS |
|---|
| Host name |
www.oapen.org |
| Uniform Resource Identifier |
<a href="http://journal.frontiersin.org/researchtopic/4244/current-challenges-in-cardiovascular-molecular-diagnostics">http://journal.frontiersin.org/researchtopic/4244/current-challenges-in-cardiovascular-molecular-diagnostics</a> |
| -- |
0 |
| Public note |
DOAB: download the publication |
| 856 40 - ELECTRONIC LOCATION AND ACCESS |
|---|
| Host name |
www.oapen.org |
| Uniform Resource Identifier |
<a href="https://directory.doabooks.org/handle/20.500.12854/44409">https://directory.doabooks.org/handle/20.500.12854/44409</a> |
| -- |
0 |
| Public note |
DOAB: description of the publication |
