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Items: 1 to 20 of 121

1.
Targeted next-generation sequencing detects novel gene–phenotype associations and expands the mutational spectrum in cardiomyopathies
Cinzia Forleo, Anna Maria D’Erchia, Sandro Sorrentino, Caterina Manzari, Matteo Chiara, Massimo Iacoviello, Andrea Igoren Guaricci, Delia De Santis, Rita Leonarda Musci, Antonino La Spada, Vito Marangelli, Graziano Pesole, Stefano Favale
PLoS One. 2017; 12(7): e0181842. Published online 2017 Jul 27. doi: 10.1371/journal.pone.0181842
PMCID:
PMC5531468
AbstractArticlePDF–1.7M
2.
Creatine Kinase ATP and Phosphocreatine Energy Supply in a Single Kindred of Patients with Hypertrophic Cardiomyopathy
M. Roselle Abraham, Paul A. Bottomley, Veronica Lea Dimaano, Aurelio Pinheiro, Angela Steinberg, Thomas A. Traill, Theodore P. Abraham, Robert G Weiss
Am J Cardiol. Author manuscript; available in PMC 2014 Sep 15.
Published in final edited form as: Am J Cardiol. 2013 Sep 15; 112(6): 861–866. Published online 2013 Jun 7. doi: 10.1016/j.amjcard.2013.05.017
PMCID:
PMC3759602
AbstractArticlePDF–1.0M
3.
CLINICAL OUTCOME AND PHENOTYPIC EXPRESSION IN LAMP2 CARDIOMYOPATHY
Barry J. Maron, William C. Roberts, Michael Arad, Tammy S. Haas, Paolo Spirito, Gregory B. Wright, Adrian K. Almquist, Jeanne M. Baffa, J. Philip Saul, Carolyn Y. Ho, Jonathan Seidman, Christine E. Seidman
JAMA. Author manuscript; available in PMC 2014 Jul 22.
Published in final edited form as: JAMA. 2009 Mar 25; 301(12): 1253–1259. doi: 10.1001/jama.2009.371
PMCID:
PMC4106257
AbstractArticlePDF–697K
4.
Long-term follow-up of R403WMYH7 and R92WTNNT2 HCM families: mutations determine left ventricular dimensions but not wall thickness during disease progression
Miriam Revera, Lize Van Der Merwe, Marshall Heradien, Althea Goosen, Paul A Brink, Valerie A Corfield, Johanna C Moolman-Smook
Cardiovasc J Afr. 2007 Jul; 18(3): 146–153.
PMCID:
PMC4213759
AbstractArticlePDF–508K
5.
Clinical Phenotype and Outcome of Hypertrophic Cardiomyopathy Associated With Thin-Filament Gene Mutations
Raffaele Coppini, Carolyn Y. Ho, Euan Ashley, Sharlene Day, Cecilia Ferrantini, Francesca Girolami, Benedetta Tomberli, Sara Bardi, Francesca Torricelli, Franco Cecchi, Alessandro Mugelli, Corrado Poggesi, Jil Tardiff, Iacopo Olivotto
J Am Coll Cardiol. 2014 Dec 23; 64(24): 2589–2600. doi: 10.1016/j.jacc.2014.09.059
PMCID:
PMC4270453
AbstractArticle
6.
Pathogenesis Associated with a Restrictive Cardiomyopathy Mutant in Cardiac Troponin T is Due to Reduced Protein Stability and Greatly Increased Myofilament Ca2+ Sensitivity
Michelle S. Parvatiyar, Jose Renato Pinto
Biochim Biophys Acta. Author manuscript; available in PMC 2016 Feb 1.
Published in final edited form as: Biochim Biophys Acta. 2015 Feb; 1850(2): 365–372. Published online 2014 Nov 1. doi: 10.1016/j.bbagen.2014.09.029
PMCID:
PMC4276470
AbstractArticlePDF–734K
7.
Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain
Diego García-Giustiniani, Michael Arad, Martín Ortíz-Genga, Roberto Barriales-Villa, Xusto Fernández, Isabel Rodríguez-García, Andrea Mazzanti, Elena Veira, Emilia Maneiro, Paula Rebolo, Iván Lesende, Laura Cazón, Dov Freimark, Juan Ramón Gimeno-Blanes, Christine Seidman, Jonathan Seidman, William McKenna, Lorenzo Monserrat
Heart. 2015 Jul 1; 101(13): 1047–1053. Published online 2015 May 2. doi: 10.1136/heartjnl-2014-307205
PMCID:
PMC4484257
AbstractArticlePDF–3.1M
8.
Cardiomyopathy Phenotypes and Outcomes for Children with Left Ventricular Myocardial Noncompaction: Results from the Pediatric Cardiomyopathy Registry
John L. Jefferies, James D. Wilkinson, Lynn A. Sleeper, Steven D. Colan, Minmin Lu, Elfriede Pahl, Paul F. Kantor, Melanie D. Everitt, Steven A. Webber, Beth D. Kaufman, Jacqueline M. Lamour, Charles E. Canter, Daphne T. Hsu, Linda J. Addonizio, Steven E. Lipshultz, Jeffrey A. Towbin, the Pediatric Cardiomyopathy Registry Investigators
J Card Fail. Author manuscript; available in PMC 2016 Nov 1.
Published in final edited form as: J Card Fail. 2015 Nov; 21(11): 877–884. Published online 2015 Jul 9. doi: 10.1016/j.cardfail.2015.06.381
PMCID:
PMC4630116
AbstractArticlePDF–1.5M
9.
Diagnostic disparity and identification of two TNNI3 gene mutations, one novel and one arising de novo, in South African patients with restrictive cardiomyopathy and focal ventricular hypertrophy
Jomien M Mouton, Craig J Kinnear, Johanna C Moolman-Smook, Philip G Herbst, Adriano S Pellizzon, Althea Goosen, Paul A Brink
Cardiovasc J Afr. 2015 Mar-Apr; 26(2): 63–69. doi: 10.5830/CVJA-2015-019
PMCID:
PMC4815569
AbstractArticlePDF–555K
10.
Plakophilin-2 c.419C>T and risk of heart failure and arrhythmias in the general population
Alex Hørby Christensen, Pia Rørbœk Kamstrup, Estelle Gandjbakhch, Marianne Benn, Jan Skov Jensen, Henning Bundgaard, Eric Villard, Anne Tybjærg-Hansen
Eur J Hum Genet. 2016 May; 24(5): 732–738. Published online 2015 Aug 12. doi: 10.1038/ejhg.2015.171
PMCID:
PMC4930081
AbstractArticlePDF–1.0M
11.
Natural History of Dilated Cardiomyopathy in Children
Ilaria Puggia, Marco Merlo, Giulia Barbati, Teisha J. Rowland, Davide Stolfo, Marta Gigli, Federica Ramani, Andrea Di Lenarda, Luisa Mestroni, Gianfranco Sinagra
J Am Heart Assoc. 2016 Jul; 5(7): e003450. Published online 2016 Jun 30. doi: 10.1161/JAHA.116.003450
PMCID:
PMC5015381
AbstractArticlePDF–343K
12.
Evolving molecular diagnostics for familial cardiomyopathies: at the heart of it all
Thomas E Callis, Brian C Jensen, Karen E Weck, Monte S Willis
Expert Rev Mol Diagn. Author manuscript; available in PMC 2016 Sep 14.
Published in final edited form as: Expert Rev Mol Diagn. 2010 Apr; 10(3): 329–351. doi: 10.1586/erm.10.13
PMCID:
PMC5022563
AbstractArticlePDF–1.7M
13.
Deficiency in the Mouse Mitochondrial Adenine Nucleotide Translocator Isoform 2 Gene is Associated with Cardiac Noncompaction
Jason E. Kokoszka, Katrina G. Waymire, Adrian Flierl, Katelyn M. Sweeney, Alessia Angelin, Grant R. MacGregor, Douglas C. Wallace
Biochim Biophys Acta. Author manuscript; available in PMC 2017 Aug 1.
Published in final edited form as: Biochim Biophys Acta. 2016 Aug; 1857(8): 1203–1212. Published online 2016 Apr 24. doi: 10.1016/j.bbabio.2016.03.026
PMCID:
PMC5100012
AbstractArticlePDF–3.6M
14.
Assessment of regional left ventricular systolic function by strain imaging echocardiography in phenotypically normal and abnormal Maine coon cats tested for the A31P mutation in the MYBPC3 gene
Arine Pellegrino, Alexandre G.T. Daniel, Guilherme G. Pereira, Paula H. Itikawa, Maria Helena M.A. Larsson
Can J Vet Res. 2017 Apr; 81(2): 137–146.
PMCID:
PMC5370540
AbstractArticlePDF–1.1M
15.
ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia
Helen M. Cooper, Yang Yang, Emil Ylikallio, Rafil Khairullin, Rosa Woldegebriel, Kai-Lan Lin, Liliya Euro, Eino Palin, Alexander Wolf, Ras Trokovic, Pirjo Isohanni, Seppo Kaakkola, Mari Auranen, Tuula Lönnqvist, Sjoerd Wanrooij, Henna Tyynismaa
Hum Mol Genet. 2017 Apr 15; 26(8): 1432–1443. Published online 2017 Jan 31. doi: 10.1093/hmg/ddx042
PMCID:
PMC5393146
AbstractArticlePDF–910K
16.
Pediatric cardiomyopathy: importance of genetic and metabolic evaluation
Steven J. Kindel, Erin M. Miller, Resmi Gupta, Linda H. Cripe, Robert B. Hinton, Robert L. Spicer, Jeffrey A. Towbin, Stephanie M. Ware
J Card Fail. Author manuscript; available in PMC 2013 May 1.
Published in final edited form as: J Card Fail. 2012 May; 18(5): 396–403. Published online 2012 Mar 10. doi: 10.1016/j.cardfail.2012.01.017
PMCID:
PMC3345128
AbstractArticlePDF–728K
17.
Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy
Rita Mendes de Almeida, Joana Tavares, Sandra Martins, Teresa Carvalho, Francisco J. Enguita, Dulce Brito, Maria Carmo-Fonseca, Luís Rocha Lopes
PLoS One. 2017; 12(8): e0182946. Published online 2017 Aug 10. doi: 10.1371/journal.pone.0182946
PMCID:
PMC5552324
AbstractArticlePDF–2.2M
18.
Clinically Divergent Mutation Effects on the Structure and Function of the Human Cardiac Tropomyosin Overlap
Mark McConnell, Lauren Tal Grinspan, Michael R. Williams, Melissa L. Lynn, Benjamin A. Schwartz, Ofer Z. Fass, Steven D. Schwartz, Jil C. Tardiff
Biochemistry. Author manuscript; available in PMC 2018 Jul 5.
Published in final edited form as: Biochemistry. 2017 Jul 5; 56(26): 3403–3413. Published online 2017 Jun 21. doi: 10.1021/acs.biochem.7b00266
PMCID:
PMC5575768
AbstractArticlePDF–2.5M
19.
Cardiomyocyte‐Specific Telomere Shortening is a Distinct Signature of Heart Failure in Humans
Maryam Sharifi‐Sanjani, Nicholas M. Oyster, Elisia D. Tichy, Kenneth C. Bedi, Jr., Ofer Harel, Kenneth B. Margulies, Foteini Mourkioti
J Am Heart Assoc. 2017 Sep; 6(9): e005086. Published online 2017 Sep 7. doi: 10.1161/JAHA.116.005086
PMCID:
PMC5634248
AbstractArticlePDF–1.0M
20.
A Comparison of Whole Genome Sequencing to Multi-Gene Panel Testing in Hypertrophic Cardiomyopathy Patients
Allison L. Cirino, Neal K. Lakdawala, Barbara McDonough, Lauren Conner, Dale Adler, Mark Weinfeld, Patrick O’Gara, Heidi L. Rehm, Kalotina Machini, Matthew Lebo, Carrie Blout, Robert C. Green, Calum A. MacRae, Christine E. Seidman, Carolyn Y. Ho, for the MedSeq Project
Circ Cardiovasc Genet. Author manuscript; available in PMC 2018 Oct 1.
Published in final edited form as: Circ Cardiovasc Genet. 2017 Oct; 10(5): e001768. doi: 10.1161/CIRCGENETICS.117.001768
PMCID:
PMC5683423
AbstractArticlePDF–435K

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