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Items: 1 to 20 of 500

1.
Ehlers-Danlos Syndrome associated with cardiomyopathy hypertrophic obstructive
Raimundo José Almeida de Oliveira Pinto, Adaílton Araújo dos Santos, Mablo de Castro Azevedo, Saulo Sacramento Meira
An Bras Dermatol. 2015 May-Jun; 90(3 Suppl 1): 220–222. doi: 10.1590/abd1806-4841.20153824
PMCID:
PMC4540556
ArticlePDF–130K
2.
Meta-Analysis of Penetrance and Systematic Review on Transition to Disease in Genetic Hypertrophic Cardiomyopathy
Constantin-Cristian Topriceanu, Alexandre C. Pereira, James C. Moon, Gabriella Captur, Carolyn Y. Ho
Circulation. 2024 Jan 9; 149(2): 107–123. Published online 2023 Nov 6. doi: 10.1161/CIRCULATIONAHA.123.065987
PMCID:
PMC10775968
ArticlePDF–1.5M
3.
MDM2 Regulation of HIF Signaling Causes Microvascular Dysfunction in Hypertrophic Cardiomyopathy
Puneeth Shridhar, Michael S. Glennon, Soumojit Pal, Christina J. Waldron, Ethan J. Chetkof, Payel Basak, Nicolas G. Clavere, Dipanjan Banerjee, Sebastien Gingras, Jason R. Becker
Circulation. 2023 Dec 5; 148(23): 1870–1886. Published online 2023 Oct 27. doi: 10.1161/CIRCULATIONAHA.123.064332
PMCID:
PMC10691664
ArticlePDF–4.8M
4.
Bioinformatics analysis of immune cell infiltration patterns and potential diagnostic markers in atherosclerosis
Haigang Ji, Ling Yuan, Wenbo Jiang, Yinke Jiang, Mengke Jiang, Xuemei Sun, Jing Chen
Sci Rep. 2023; 13: 19821. Published online 2023 Nov 14. doi: 10.1038/s41598-023-47257-8
PMCID:
PMC10645850
ArticlePDF–4.1M
5.
Microstructural and Microvascular Phenotype of Sarcomere Mutation Carriers and Overt Hypertrophic Cardiomyopathy
George Joy, Christopher I. Kelly, Matthew Webber, Iain Pierce, Irvin Teh, Louise McGrath, Paula Velazquez, Rebecca K. Hughes, Huafrin Kotwal, Arka Das, Fiona Chan, Athanasios Bakalakos, Massimiliano Lorenzini, Konstantinos Savvatis, Saidi A. Mohiddin, Peter W. Macfarlane, Michele Orini, Charlotte Manisty, Peter Kellman, Rhodri H. Davies, Pier D. Lambiase, Christopher Nguyen, Jurgen E. Schneider, Maite Tome, Gabriella Captur, Erica Dall’Armellina, James C. Moon, Luis R. Lopes
Circulation. 2023 Sep 5; 148(10): 808–818. Published online 2023 Jul 18. doi: 10.1161/CIRCULATIONAHA.123.063835
PMCID:
PMC10473031
ArticlePDF–1.1M
6.
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects
Jessica X. Chong, Matthew Carter Childers, Colby T. Marvin, Anthony J. Marcello, Hernan Gonorazky, Lili-Naz Hazrati, James J. Dowling, Fatema Al Amrani, Yasemin Alanay, Yolanda Nieto, Miguel Á Marín Gabriel, Arthur S. Aylsworth, Kati J. Buckingham, Kathryn M. Shively, Olivia Sommers, Kailyn Anderson, University of Washington Center for Mendelian Genomics, University of Washington Center for Rare Disease Research, Michael Regnier, Michael J. Bamshad
HGG Adv. 2023 Jul 13; 4(3): 100213. Published online 2023 Jun 15. doi: 10.1016/j.xhgg.2023.100213
PMCID:
PMC10345160
ArticlePDF–3.9M
7.
Late-onset and classic phenotypes of Fabry disease in males with the GLA-Thr410Ala mutation
Kati Valtola, Marja Hedman, Ilkka Kantola, Susanne Walls, Seppo Helisalmi, Maleeha Maria, Joose Raivo, Christiane Auray-Blais, Johanna Kuusisto
Open Heart. 2023; 10(1): e002251. Published online 2023 Mar 16. doi: 10.1136/openhrt-2023-002251
PMCID:
PMC10030781
ArticlePDF–823K
8.
Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management
Michele Lioncino, Emanuele Monda, Federica Verrillo, Elisabetta Moscarella, Giulio Calcagni, Fabrizio Drago, Bruno Marino, Maria Cristina Digilio, Carolina Putotto, Paolo Calabrò, Maria Giovanna Russo, Amy E. Roberts, Bruce D. Gelb, Marco Tartaglia, Giuseppe Limongelli
Heart Fail Clin. Author manuscript; available in PMC 2023 Jan 1.
Published in final edited form as: Heart Fail Clin. 2022 Jan; 18(1): 19–29. Published online 2021 Oct 25. doi: 10.1016/j.hfc.2021.07.004
PMCID:
PMC9674037
ArticlePDF–305K
9.
Alteration in tyrosine phosphorylation of cardiac proteome and EGFR pathway contribute to hypertrophic cardiomyopathy
Mingguo Xu, Kevin C. Bermea, Marzieh Ayati, Han Byeol Kim, Xiaomei Yang, Andres Medina, Zongming Fu, Amir Heravi, Xinyu Zhang, Chan Hyun Na, Allen D. Everett, Kathleen Gabrielson, D. Brian Foster, Nazareno Paolocci, Anne M. Murphy, Genaro A. Ramirez-Correa
Commun Biol. 2022; 5: 1251. Published online 2022 Nov 15. doi: 10.1038/s42003-022-04021-4
PMCID:
PMC9666710
ArticlePDF–4.8M
10.
Human-Induced Pluripotent Stem Cell–Derived Cardiomyocyte Model for TNNT2 Δ160E-Induced Cardiomyopathy
Takumi Kondo, Shuichiro Higo, Mikio Shiba, Yasuaki Kohama, Satoshi Kameda, Tomoka Tabata, Hiroyuki Inoue, Shota Okuno, Shou Ogawa, Satoki Nakamura, Maki Takeda, Emiko Ito, Junjun Li, Li Liu, Yuki Kuramoto, Jong-Kook Lee, Seiji Takashima, Shigeru Miyagawa, Yoshiki Sawa, Shungo Hikoso, Yasushi Sakata
Circ Genom Precis Med. 2022 Oct; 15(5): e003522. Published online 2022 Jul 12. doi: 10.1161/CIRCGEN.121.003522
PMCID:
PMC9584061
ArticlePDF–4.0M
11.
Diagnostic validity and clinical utility of genetic testing for hypertrophic cardiomyopathy: a systematic review and meta-analysis
Susan Christian, Allison Cirino, Brittany Hansen, Stephanie Harris, Andrea M Murad, Jaime L Natoli, Jennifer Malinowski, Melissa A Kelly
Open Heart. 2022; 9(1): e001815. Published online 2022 Apr 6. doi: 10.1136/openhrt-2021-001815
PMCID:
PMC8987756
ArticlePDF–1.1M
12.
Altered Cardiac Energetics and Mitochondrial Dysfunction in Hypertrophic Cardiomyopathy
Sara Ranjbarvaziri, Kristina B. Kooiker, Mathew Ellenberger, Giovanni Fajardo, Mingming Zhao, Alison Schroer Vander Roest, Rahel A. Woldeyes, Tiffany T. Koyano, Robyn Fong, Ning Ma, Lei Tian, Gavin M. Traber, Frandics Chan, John Perrino, Sushma Reddy, Wah Chiu, Joseph C. Wu, Joseph Y. Woo, Kathleen M. Ruppel, James A. Spudich, Michael P. Snyder, Kévin Contrepois, Daniel Bernstein
Circulation. Author manuscript; available in PMC 2022 Nov 23.
Published in final edited form as: Circulation. 2021 Nov 23; 144(21): 1714–1731. Published online 2021 Oct 21. doi: 10.1161/CIRCULATIONAHA.121.053575
PMCID:
PMC8608736
ArticlePDF–1.4M
13.
Health-related quality of life and physical activity in children with inherited cardiac arrhythmia or inherited cardiomyopathy: the prospective multicentre controlled QUALIMYORYTHM study rationale, design and methods
Pascal Amedro, Oscar Werner, Hamouda Abassi, Aymeric Boisson, Luc Souilla, Sophie Guillaumont, Johanna Calderon, Anne Requirand, Marie Vincenti, Victor Pommier, Stefan Matecki, Gregoire De La Villeon, Kathleen Lavastre, Alain Lacampagne, Marie-Christine Picot, Constance Beyler, Christophe Delclaux, Yves Dulac, Aitor Guitarte, Philippe Charron, Isabelle Denjoy-Urbain, Vincent Probst, Alban-Elouen Baruteau, Philippe Chevalier, Sylvie Di Filippo, Jean-Benoit Thambo, Damien Bonnet, Jean-Luc Pasquie
Health Qual Life Outcomes. 2021; 19: 187. Published online 2021 Jul 28. doi: 10.1186/s12955-021-01825-6
PMCID:
PMC8317438
ArticlePDF–1.0M
14.
Transcriptome Sequencing of Patients With Hypertrophic Cardiomyopathy Reveals Novel Splice-Altering Variants in MYBPC3
Mira Holliday, Emma S. Singer, Samantha B. Ross, Seakcheng Lim, Sean Lal, Jodie Ingles, Christopher Semsarian, Richard D. Bagnall
Circ Genom Precis Med. 2021 Apr; 14(2): e003202. Published online 2021 Mar 3. doi: 10.1161/CIRCGEN.120.003202
PMCID:
PMC8284365
ArticlePDF–1.0M
15.
CalTrack: High-Throughput Automated Calcium Transient Analysis in Cardiomyocytes
Yiangos Psaras, Francesca Margara, Marcelo Cicconet, Alexander J. Sparrow, Giuliana G. Repetti, Manuel Schmid, Violetta Steeples, Jonathan A.L. Wilcox, Alfonso Bueno-Orovio, Charles S. Redwood, Hugh C. Watkins, Paul Robinson, Blanca Rodriguez, Jonathan G. Seidman, Christine E. Seidman, Christopher N. Toepfer
Circ Res. 2021 Jul 9; 129(2): 326–341. Published online 2021 May 21. doi: 10.1161/CIRCRESAHA.121.318868
PMCID:
PMC8260473
ArticlePDF–5.2M
16.
Human-induced pluripotent stem cells for modelling metabolic perturbations and impaired bioenergetics underlying cardiomyopathies
Chrishan J A Ramachandra, Jasper Chua, Shuo Cong, Myu Mai Ja Kp, Winston Shim, Joseph C Wu, Derek J Hausenloy
Cardiovasc Res. 2021 Mar 1; 117(3): 694–711. Published online 2020 May 4. doi: 10.1093/cvr/cvaa125
PMCID:
PMC7898957
ArticlePDF–869K
17.
Founder Mutation in N Terminus of Cardiac Troponin I Causes Malignant Hypertrophic Cardiomyopathy
Akl C. Fahed, Georges Nemer, Fadi F. Bitar, Samir Arnaout, Antoine B. Abchee, Manal Batrawi, Athar Khalil, Ossama K. Abou Hassan, Steven R. DePalma, Barbara McDonough, Mariam T. Arabi, James S. Ware, Jonathan G. Seidman, Christine E. Seidman
Circ Genom Precis Med. 2020 Oct; 13(5): 444–452. Published online 2020 Sep 4. doi: 10.1161/CIRCGEN.120.002991
PMCID:
PMC7676616
ArticlePDF–554K
18.
Temporal Trend of Age at Diagnosis in Hypertrophic Cardiomyopathy: An Analysis of the International Sarcomeric Human Cardiomyopathy Registry
Marco Canepa, Carlo Fumagalli, Giacomo Tini, Justin Vincent-Tompkins, Sharlene M. Day, Euan A. Ashley, Francesco Mazzarotto, James S. Ware, Michelle Michels, Daniel Jacoby, Carolyn Y. Ho, Iacopo Olivotto
Circ Heart Fail. 2020 Sep; 13(9): e007230. Published online 2020 Sep 8. doi: 10.1161/CIRCHEARTFAILURE.120.007230
PMCID:
PMC7497482
ArticlePDF–474K
19.
Aetiological and morphological spectrum of cardiomyopathies in French Guiana: a retrospective study
Paul Leménager, Yves-Kenol Franck, Florine Corlin, Nicolas Bouscaren, Mathieu Nacher, Antoine Adenis
Open Heart. 2020; 7(1): e001206. Published online 2020 May 12. doi: 10.1136/openhrt-2019-001206
PMCID:
PMC7228657
ArticlePDF–432K
20.
Baseline characteristics of the Valsartan for Attenuating Disease Evolution in Early Sarcomeric Hypertrophic Cardiomyopathy cohort
Anna Axelsson Raja, Ling Shi, Sharlene M. Day, Mark Russell, Kenneth Zahka, Harry Lever, Steven D. Colan, Renee Margossian, E. Kevin Hall, Jason Becker, John Lynn Jefferies, Amit R. Patel, Lubna Choudhury, Anne M. Murphy, Charles Canter, Richard Bach, Matthew Taylor, Luisa Mestroni, Matthew T. Wheeler, Lee Benson, Anjali T. Owens, Joseph Rossano, Kimberly Y. Lin, Elfriede Pahl, Alexandre C. Pereira, Henning Bundgaard, Gregory D. Lewis, Jose D. Vargas, Allison L. Cirino, John J. V. McMurray, Calum A. MacRae, Scott D. Solomon, E. John Orav, Eugene Braunwald, Carolyn Y. Ho
Circ Heart Fail. Author manuscript; available in PMC 2020 Dec 9.
Published in final edited form as: Circ Heart Fail. 2019 Dec; 12(12): e006231. Published online 2019 Dec 9. doi: 10.1161/CIRCHEARTFAILURE.119.006231
PMCID:
PMC7219518
ArticlePDF–1.0M

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