Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Jaeger P. Ackerman"'
Autor:
Marina Cerrone, Michael J. Ackerman, Mario Delmar, Nicholas C. Ackerman, Jaeger P. Ackerman, David J. Tester, John R. Giudicessi
Publikováno v:
JACC: Clinical Electrophysiology. 5:120-127
Objectives This study determined if radical plakophilin-2 (PKP2) variants might underlie some cases of clinically diagnosed catecholaminergic polymorphic ventricular tachycardia (CPVT) and exercise-associated, autopsy-negative sudden unexplained deat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fa7093aec9ff0383a923c8d95c62344
https://doi.org/10.1016/j.jacep.2018.09.010
https://doi.org/10.1016/j.jacep.2018.09.010
Autor:
Jamie D. Kapplinger, David J. Tester, Daniel C. Bartos, Michael J. Ackerman, Jaeger P. Ackerman, Brian P. Delisle
Publikováno v:
Mayo Clinic Proceedings. 91:1606-1616
We illustrate the work necessary to reverse course after identification of a KCNQ1 variant interpreted erroneously as causing long QT syndrome (LQTS) and to identify the true cause of a case of sudden death in the young. Surrogate genetic testing of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c9b8fb2ad316fd2cbb77b08c6ba69efe
https://doi.org/10.1016/j.mayocp.2016.08.008
https://doi.org/10.1016/j.mayocp.2016.08.008
Autor:
Beau A. Crabb, Jaeger P. Ackerman, Muhammad Yasir Qureshi, John A. Smestad, Nancy J. Mendelsohn, Michael J. Ackerman, David J. Tester
Publikováno v:
Congenital Heart Disease. 11:452-461
Objective To use whole exome sequencing (WES) of a family trio to identify a genetic cause for polyvalvular syndrome. Methods and Results A male child was born with mild pulmonary valve stenosis and mild aortic root dilatation, and an atrial septal d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9161cd3aa645ab2b2f7bd964eff50ccf
https://doi.org/10.1111/chd.12400
https://doi.org/10.1111/chd.12400
Autor:
Garrett W. Shanks, Michael J. Ackerman, David J. Tester, Michael A. Simpson, Elijah R. Behr, Steven M. White, Jaeger P. Ackerman
Publikováno v:
Circulation. 137(25)
Background: Potentially lethal cardiac channelopathies/cardiomyopathies may underlie a substantial portion of sudden unexplained death in the young (SUDY). The whole-exome molecular autopsy represents the latest approach to postmortem genetic testing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::beadceeb27711a933997b7fc13d01203
https://pubmed.ncbi.nlm.nih.gov/29915099
https://pubmed.ncbi.nlm.nih.gov/29915099
Autor:
Raul Urrutia, Katia Sol-Church, Michael J. Ackerman, Erin M. Higgins, Jaeger P. Ackerman, Heather Mason-Suares, Karen W. Gripp, David J. Tester, Calum A. MacRae, J. Martijn Bos
Publikováno v:
JCI Insight. 2
Noonan syndrome (NS; MIM 163950) is an autosomal dominant disorder and a member of a family of developmental disorders termed “RASopathies,” which are caused mainly by gain-of-function mutations in genes encoding RAS/MAPK signaling pathway protei
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41857c8d49cebe6eb9c80ded6e97d449
https://doi.org/10.1172/jci.insight.91225
https://doi.org/10.1172/jci.insight.91225
Autor:
Nadezhda V. Ershova, Frank Cetta, Alexander A. Sokolov, Evgeny V. Krivoshchekov, Joseph A. Dearani, Jaeger P. Ackerman, Olga S. Yanulevich
The cone reconstruction technique, first described by da Silva and modified by Dearani and by others, has become the repair method of choice in patients with Ebstein anomaly of the tricuspid valve. This report details the outcome of the modified cone
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6515bc0f248fd1832e6d2967d3693669
https://europepmc.org/articles/PMC5317358/
https://europepmc.org/articles/PMC5317358/
Autor:
Jaeger P, Ackerman, John A, Smestad, David J, Tester, Muhammad Y, Qureshi, Beau A, Crabb, Nancy J, Mendelsohn, Michael J, Ackerman
Publikováno v:
Congenital heart disease. 11(5)
To use whole exome sequencing (WES) of a family trio to identify a genetic cause for polyvalvular syndrome.A male child was born with mild pulmonary valve stenosis and mild aortic root dilatation, and an atrial septal defect, ventricular septal defec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::48944e7ed071ce743b06fe60f410ce42
https://pubmed.ncbi.nlm.nih.gov/27452334
https://pubmed.ncbi.nlm.nih.gov/27452334
Autor:
Jaeger P, Ackerman, Daniel C, Bartos, Jamie D, Kapplinger, David J, Tester, Brian P, Delisle, Michael J, Ackerman
Publikováno v:
Mayo Clinic proceedings.
We illustrate the work necessary to reverse course after identification of a KCNQ1 variant interpreted erroneously as causing long QT syndrome (LQTS) and to identify the true cause of a case of sudden death in the young. Surrogate genetic testing of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cd3a023f4dae253e05412bc0832f3007
https://pubmed.ncbi.nlm.nih.gov/27806950
https://pubmed.ncbi.nlm.nih.gov/27806950