PMC Articles for MedGen (Select 473910) - PMC

Links from MedGen

Items: 1 to 20 of 40

<< First< Prev

Page of 2

Select item 104603521.

Only one beer can be mortal: a case report of two sisters with cardiac arrest due to a homozygous mutation in PPA2 gene

Héctor Hugo Manzanilla-Romero, Elisabeth Schermer, Agnes Mayr, Sabine Rudnik-Schöneborn

Eur J Pediatr. 2023; 182(8): 3785–3788. Published online 2023 Jun 3. doi: 10.1007/s00431-023-05034-9

PMCID:: PMC10460352

Article PubReader PDF–763K Cite

Select item 101005812.

KBTBD13 is a novel cardiomyopathy gene

Josine M. de Winter, Karlijn Bouman, Joshua Strom, Mei Methawasin, Jan D. H. Jongbloed, Wilma van der Roest, Jan van Wijngaarden, Janneke Timmermans, Robin Nijveldt, Frederik van den Heuvel, Erik‐Jan Kamsteeg, Baziel G. van Engelen, Ricardo Galli, Sylvia J. P. Bogaards, Reinier A. Boon, Robbert J. van der Pijl, Henk Granzier, Bobby Koeleman, Ahmad S. Amin, Jolanda van der Velden, J. Peter van Tintelen, Maarten P. van den Berg, Karin Y. van Spaendonck‐Zwarts, Nicol C. Voermans, Coen A. C. Ottenheijm

Hum Mutat. 2022 Dec; 43(12): 1860–1865. Published online 2022 Nov 20. doi: 10.1002/humu.24499

PMCID:: PMC10100581

Article PubReader PDF–1.0M Cite

Select item 92385933.

Diagnostic Yield of Genetic Testing in Young Patients With Atrioventricular Block of Unknown Cause

Johnni Resdal Dyssekilde, Tanja Charlotte Frederiksen, Morten Krogh Christiansen, Rikke Hasle Sørensen, Lisbeth Nørum Pedersen, Peter Loof Møller, Lene Svendstrup Christensen, Jacob Moesgaard Larsen, Kristian Korsgaard Thomsen, Tommi Bo Lindhardt, Morten Böttcher, Stig Molsted, Ole Havndrup, Thomas Fischer, Dorthe Svenstrup Møller, Finn Lund Henriksen, Jens Brock Johansen, Jens Cosedis Nielsen, Henning Bundgaard, Mette Nygaard, Henrik Kjærulf Jensen

J Am Heart Assoc. 2022 May 3; 11(9): e025643. Published online 2022 Apr 26. doi: 10.1161/JAHA.121.025643

PMCID:: PMC9238593

Article PubReader PDF–581K Cite

Select item 84314294.

Pediatric Catecholaminergic Polymorphic Ventricular Tachycardia: A Translational Perspective for the Clinician-Scientist

Dania Kallas, Avani Lamba, Thomas M. Roston, Alia Arslanova, Sonia Franciosi, Glen F. Tibbits, Shubhayan Sanatani

Int J Mol Sci. 2021 Sep; 22(17): 9293. Published online 2021 Aug 27. doi: 10.3390/ijms22179293

PMCID:: PMC8431429

Article PubReader PDF–1.3M Cite

Select item 84310755.

H1153Y-KCNH2 Mutation Identified in a Sudden Arrhythmic Death Syndrome Case Alters Channel Gating

Audrey Farrugia, Kevin Rollet, Jérome Sinniger, Susana Brun, Caroline Spenle, Bertrand Ludes, Omar Taleb, Ayikoe Guy Mensah-Nyagan

Int J Mol Sci. 2021 Sep; 22(17): 9235. Published online 2021 Aug 26. doi: 10.3390/ijms22179235

PMCID:: PMC8431075

Article PubReader PDF–7.3M Cite

Select item 79450476.

TBX5-encoded T-box transcription factor 5 variant T223M is associated with long QT syndrome and pediatric sudden cardiac death

Alexandra M. Markunas, Perathu K. R. Manivannan, Jordan E. Ezekian, Agnim Agarwal, William Eisner, Katherina Alsina, Hugh D. Allen, Gregory A. Wray, Jeffrey J. Kim, Xander H. T. Wehrens, Andrew P. Landstrom

Am J Med Genet A. Author manuscript; available in PMC 2022 Mar 1.

Published in final edited form as: Am J Med Genet A. 2021 Mar; 185(3): 923–929. Published online 2020 Dec 23. doi: 10.1002/ajmg.a.62037

PMCID:: PMC7945047

Article PubReader PDF–626K Cite

Select item 78681797.

Cardiac arrest in a patient with trichorhinophalangeal syndrome and dilated cardiomyopathy

Gautam Sen, Eleanor Barendt, Manas Sinha

BMJ Case Rep. 2021; 14(2): e237604. Published online 2021 Feb 4. doi: 10.1136/bcr-2020-237604

PMCID:: PMC7868179

Article PubReader PDF–452K Cite

Select item 77480508.

KCNQ1 and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine

Elizabeth A. Streeten, Vincent Y. See, Linda B.J. Jeng, Kristin A. Maloney, Megan Lynch, Andrew M. Glazer, Tao Yang, Dan Roden, Toni I. Pollin, Melanie Daue, Kathleen A. Ryan, Cristopher Van Hout, Nehal Gosalia, Claudia Gonzaga-Jauregui, Aris Economides, James A. Perry, Jeffrey O’Connell, Amber Beitelshees, Kathleen Palmer, Braxton D. Mitchell, Alan R Shuldiner

Circ Genom Precis Med. 2020 Dec; 13(6): e003133. Published online 2020 Nov 3. doi: 10.1161/CIRCGEN.120.003133

PMCID:: PMC7748050

Article PubReader PDF–1.4M Cite

Select item 76794749.

GENOTYPE PREDICTS OUTCOMES IN FETUSES AND NEONATES WITH SEVERE CONGENITAL LONG QT SYNDROME

Jeremy P. Moore, Roberto G. Gallotti, Kevin M. Shannon, J. Martijn Bos, Elham Sadeghi, Janette F. Strasburger, Ronald T. Wakai, Hitoshi Horigome, Sally-Ann Clur, Allison C. Hill, Maully J. Shah, Shashank Behere, Georgia Sarquella-Brugada, Richard Czosek, Susan P. Etheridge, Peter Fischbach, Prince Kannankeril, Kara Motonaga, Andrew P. Landstrom, Matthew Williams, Akash Patel, Federica Dagradi, Reina B. Tan, Elizabeth Stephenson, Mani Ram Krishna, Christina Y. Miyake, Michelle E. Lee, Shubhayan Sanatani, Seshadri Balaji, Ming-Lon Young, Saad Sidiqui, Peter J. Schwartz, Kalyanam Shivkumar, Michael J. Ackerman

JACC Clin Electrophysiol. Author manuscript; available in PMC 2021 Nov 1.

Published in final edited form as: JACC Clin Electrophysiol. 2020 Nov; 6(12): 1561–1570. Published online 2020 Aug 26. doi: 10.1016/j.jacep.2020.06.001

PMCID:: PMC7679474

Article PubReader PDF–651K Cite

Select item 734136010.

GSTM3 variant is a novel genetic modifier in Brugada syndrome, a disease with risk of sudden cardiac death

Jyh-Ming Jimmy Juang, Anna Binda, Shyh-Jye Lee, Juey-Jen Hwang, Wen-Jone Chen, Yen-Bin Liu, Lian-Yu Lin, Chih-Chieh Yu, Li-Ting Ho, Hui-Chun Huang, Ching-Yu Julius Chen, Tzu-Pin Lu, Liang-Chuan Lai, Shih-Fan Sherri Yeh, Ling-Ping Lai, Eric Y. Chuang, Ilaria Rivolta, Charles Antzelevitch

EBioMedicine. 2020 Jul; 57: 102843. Published online 2020 Jul 7. doi: 10.1016/j.ebiom.2020.102843

Correction in:: EBioMedicine. 2021 Apr; 66: 103295.

PMCID:: PMC7341360

Article PubReader PDF–2.5M Cite

Select item 701160911.

Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy

Xiaoping Lin, Yuankun Ma, Zhejun Cai, Qiyuan Wang, Lihua Wang, Zhaoxia Huo, Dan Hu, Jian’an Wang, Meixiang Xiang

BMC Cardiovasc Disord. 2020; 20: 74. Published online 2020 Feb 11. doi: 10.1186/s12872-020-01369-5

PMCID:: PMC7011609

Article PubReader PDF–2.2M Cite

Select item 698815612.

Systematic Review of the Genetics of Sudden Unexpected Death in Epilepsy: Potential Overlap With Sudden Cardiac Death and Arrhythmia‐Related Genes

C. Anwar A. Chahal, Mohammad N. Salloum, Fares Alahdab, Joseph A. Gottwald, David J. Tester, Lucman A. Anwer, Elson L. So, Mohammad Hassan Murad, Erik K. St Louis, Michael J. Ackerman, Virend K. Somers

J Am Heart Assoc. 2020 Jan 7; 9(1): e012264. Published online 2019 Dec 21. doi: 10.1161/JAHA.119.012264

PMCID:: PMC6988156

Article PubReader PDF–2.0M Cite

Select item 696203213.

KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization pattern

Alexander Teumer, Teresa Trenkwalder, Thorsten Kessler, Yalda Jamshidi, Marten E. van den Berg, Bernhard Kaess, Christopher P. Nelson, Rachel Bastiaenen, Marzia De Bortoli, Alessandra Rossini, Isabel Deisenhofer, Klaus Stark, Solmaz Assa, Peter S. Braund, Claudia Cabrera, Anna F. Dominiczak, Martin Gögele, Leanne M. Hall, M. Arfan Ikram, Maryam Kavousi, Karl J. Lackner, Lifelines Cohort Study, Christian Müller, Thomas Münzel, Matthias Nauck, Sandosh Padmanabhan, Norbert Pfeiffer, Tim D. Spector, Andre G. Uitterlinden, Niek Verweij, Uwe Völker, Helen R. Warren, Mobeen Zafar, Stephan B. Felix, Jan A. Kors, Harold Snieder, Patricia B. Munroe, Cristian Pattaro, Christian Fuchsberger, Georg Schmidt, Ilja M. Nolte, Heribert Schunkert, Peter P. Pramstaller, Philipp S. Wild, Pim van der Harst, Bruno H. Stricker, Renate B. Schnabel, Nilesh J. Samani, Christian Hengstenberg, Marcus Dörr, Elijah R. Behr, Wibke Reinhard

JCI Insight. 2019 Dec 5; 4(23): e131156. Published online 2019 Dec 5. doi: 10.1172/jci.insight.131156

PMCID:: PMC6962032

Article PubReader PDF–3.3M Cite

Select item 693229314.

Novel Mutation in the KCNJ2 Gene Is Associated with a Malignant Arrhythmic Phenotype of Andersen‐Tawil Syndrome

E. Fernlund, C. Lundin, E. Hertervig, O. Kongstad, M. Alders, P. Platonov

Ann Noninvasive Electrocardiol. 2013 Sep; 18(5): 471–478. Published online 2013 Sep 16. doi: 10.1111/anec.12074

PMCID:: PMC6932293

Article PubReader PDF–1.1M Cite

Select item 622129715.

Catecholaminergic polymorphic ventricular tachycardia patients with multiple genetic variants in the PACES CPVT Registry

Thomas M. Roston, Omid Haji-Ghassemi, Martin J. LaPage, Anjan S. Batra, Yaniv Bar-Cohen, Chris Anderson, Yung R. Lau, Kathleen Maginot, Roman A. Gebauer, Susan P. Etheridge, James E. Potts, Filip Van Petegem, Shubhayan Sanatani

PLoS One. 2018; 13(11): e0205925. Published online 2018 Nov 7. doi: 10.1371/journal.pone.0205925

PMCID:: PMC6221297

Article PubReader PDF–2.6M Cite

Select item 611661116.

IDENTIFYING NEW SUDDEN DEATH GENES

BARRY LONDON, ALEXANDER M. GREINER, HAIDER MEHDI, REBECCA GUTMANN

Trans Am Clin Climatol Assoc. 2018; 129: 183–184.

PMCID:: PMC6116611

Article PubReader Cite

Select item 598272217.

Characteristics and clinical assessment of unexplained sudden cardiac arrest in the real-world setting: focus on idiopathic ventricular fibrillation

Victor Waldmann, Wulfran Bougouin, Nicole Karam, Florence Dumas, Ardalan Sharifzadehgan, Estelle Gandjbakhch, Vincent Algalarrondo, Kumar Narayanan, Alexandre Zhao, Denis Amet, Daniel Jost, Guillaume Geri, Lionel Lamhaut, Frankie Beganton, Bertrand Ludes, Patrick Bruneval, Isabelle Plu, Françoise Hidden-Lucet, Juliette Albuisson, Thomas Lavergne, Olivier Piot, Christine Alonso, Antoine Leenhardt, Nicolas Lellouche, Fabrice Extramiana, Alain Cariou, Xavier Jouven, Eloi Marijon, Paris-SDEC investigators

Eur Heart J. 2018 Jun 1; 39(21): 1981–1987. Published online 2018 Mar 16. doi: 10.1093/eurheartj/ehy098

PMCID:: PMC5982722

Article PubReader PDF–337K Cite

Select item 584156118.

Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing

Laurence M. Nunn, Luis R. Lopes, Petros Syrris, Cian Murphy, Vincent Plagnol, Eileen Firman, Chrysoula Dalageorgou, Esther Zorio, Diana Domingo, Victoria Murday, Iain Findlay, Alexis Duncan, Gerry Carr-White, Leema Robert, Teofila Bueser, Caroline Langman, Simon P Fynn, Martin Goddard, Anne White, Henning Bundgaard, Laura Ferrero-Miliani, Nigel Wheeldon, Simon K. Suvarna, Aliceson O'Beirne, Martin D. Lowe, William J. McKenna, Perry M. Elliott, Pier D. Lambiase

Europace. 2016 Jun; 18(6): 888–896. Published online 2015 Oct 25. doi: 10.1093/europace/euv285

PMCID:: PMC5841561

Article PubReader PDF–210K Cite

Select item 583896819.

Targeted next generation sequencing in a young population with suspected inherited malignant cardiac arrhythmias

Anders Krogh Broendberg, Morten Krogh Christiansen, Jens Cosedis Nielsen, Lisbeth Noerum Pedersen, Henrik Kjaerulf Jensen

Eur J Hum Genet. 2018 Mar; 26(3): 303–313. Published online 2018 Jan 17. doi: 10.1038/s41431-017-0060-8

PMCID:: PMC5838968

Article PubReader PDF–883K Cite

Select item 581465020.

Age- and strain-related aberrant Ca²⁺ release is associated with sudden cardiac death in the ACTC E99K mouse model of hypertrophic cardiomyopathy

Christina T. Rowlands, Thomas Owen, Saheed Lawal, Shuangyi Cao, Samata S. Pandey, Hsiang-Yu Yang, Weihua Song, Ross Wilkinson, Anita Alvarez-Laviada, Katja Gehmlich, Steven B. Marston, Kenneth T. MacLeod

Am J Physiol Heart Circ Physiol. 2017 Dec 1; 313(6): H1213–H1226. Published online 2017 Sep 8. doi: 10.1152/ajpheart.00244.2017

PMCID:: PMC5814650

Article PubReader Cite

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 40

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity