U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 24

1.
Identification of a novel missense mutation in the TPM1 gene via exome sequencing in a Chinese family with dilated cardiomyopathy: A case report and literature review
Yilong Man, Changying Yi, Meili Fan, Tianyu Yang, Peng Liu, Shiguang Liu, Guangxin Wang
Medicine (Baltimore) 2022 Jan 14; 101(2): e28551. Published online 2022 Jan 14. doi: 10.1097/MD.0000000000028551
PMCID:
PMC8758022
AbstractArticlePDF–387K
2.
Cleavage of serum response factor mediated by enteroviral protease 2A contributes to impaired cardiac function
Jerry Wong, Jingchun Zhang, Bobby Yanagawa, Zongshu Luo, Xiangsheng Yang, Jiang Chang, Bruce McManus, Honglin Luo
Cell Res. 2012 Feb; 22(2): 360–371. Published online 2011 Jul 19. doi: 10.1038/cr.2011.114
PMCID:
PMC3271589
AbstractArticlePDF–1.2M
3.
Isogenic Pairs of hiPSC-CMs with Hypertrophic Cardiomyopathy/LVNC-Associated ACTC1 E99K Mutation Unveil Differential Functional Deficits
James G.W. Smith, Thomas Owen, Jamie R. Bhagwan, Diogo Mosqueira, Elizabeth Scott, Ingra Mannhardt, Asha Patel, Roberto Barriales-Villa, Lorenzo Monserrat, Arne Hansen, Thomas Eschenhagen, Sian E. Harding, Steve Marston, Chris Denning
Stem Cell Reports. 2018 Nov 13; 11(5): 1226–1243. Published online 2018 Nov 1. doi: 10.1016/j.stemcr.2018.10.006
PMCID:
PMC6235010
AbstractArticlePDF–4.6M
4.
Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth
C G Steward, R A Newbury-Ecob, R Hastings, S F Smithson, B Tsai-Goodman, O W Quarrell, W Kulik, R Wanders, M Pennock, M Williams, J L Cresswell, I L Gonzalez, P Brennan
Prenat Diagn. 2010 Oct; 30(10): 970–976. doi: 10.1002/pd.2599
PMCID:
PMC2995309
AbstractArticlePDF–194K
5.
Identification of Critical Regions and Candidate Genes for Cardiovascular Malformations and Cardiomyopathy Associated with Deletions of Chromosome 1p36
Hitisha P. Zaveri, Tyler F. Beck, Andrés Hernández-García, Katharine E. Shelly, Tara Montgomery, Arie van Haeringen, Britt-Marie Anderlid, Chirag Patel, Himanshu Goel, Gunnar Houge, Bernice E. Morrow, Sau Wai Cheung, Seema R. Lalani, Daryl A. Scott
PLoS One. 2014; 9(1): e85600. Published online 2014 Jan 15. doi: 10.1371/journal.pone.0085600
PMCID:
PMC3893250
AbstractArticlePDF–501K
6.
ZASP Interacts with the Mechanosensing Protein Ankrd2 and p53 in the Signalling Network of Striated Muscle
Valentina C. Martinelli, W. Buck Kyle, Snezana Kojic, Nicola Vitulo, Zhaohui Li, Anna Belgrano, Paolo Maiuri, Lawrence Banks, Matteo Vatta, Giorgio Valle, Georgine Faulkner
PLoS One. 2014; 9(3): e92259. Published online 2014 Mar 19. doi: 10.1371/journal.pone.0092259
Retraction in:
PLoS One. 2024; 19(1): e0298249.
PMCID:
PMC3960238
AbstractArticle
7.
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
8.
Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction
Robert Hastings, Carin P. de Villiers, Charlotte Hooper, Liz Ormondroyd, Alistair Pagnamenta, Stefano Lise, Silvia Salatino, Samantha J.L. Knight, Jenny C. Taylor, Kate L. Thomson, Linda Arnold, Spyros D. Chatziefthimiou, Petr V. Konarev, Matthias Wilmanns, Elisabeth Ehler, Andrea Ghisleni, Mathias Gautel, Edward Blair, Hugh Watkins, Katja Gehmlich
Circ Cardiovasc Genet. 2016 Oct; 9(5): 426–435. Published online 2016 Oct 18. doi: 10.1161/CIRCGENETICS.116.001431
PMCID:
PMC5068189
AbstractArticlePDF–800K
9.
A Wide and Specific Spectrum of Genetic Variants and Genotype–Phenotype Correlations Revealed by Next‐Generation Sequencing in Patients with Left Ventricular Noncompaction
Ce Wang, Yukiko Hata, Keiichi Hirono, Asami Takasaki, Sayaka Watanabe Ozawa, Hideyuki Nakaoka, Kazuyoshi Saito, Nariaki Miyao, Mako Okabe, Keijiro Ibuki, Naoki Nishida, Hideki Origasa, Xianyi Yu, Neil E. Bowles, Fukiko Ichida, for LVNC Study Collaborators
J Am Heart Assoc. 2017 Sep; 6(9): e006210. Published online 2017 Aug 30. doi: 10.1161/JAHA.117.006210
PMCID:
PMC5634278
AbstractArticlePDF–1.4M
10.
Endothelial deletion of Ino80 disrupts coronary angiogenesis and causes congenital heart disease
Siyeon Rhee, Jae I. Chung, Devin A. King, Gaetano D’amato, David T. Paik, Anna Duan, Andrew Chang, Danielle Nagelberg, Bikram Sharma, Youngtae Jeong, Maximilian Diehn, Joseph C. Wu, Ashby J. Morrison, Kristy Red-Horse
Nat Commun. 2018; 9: 368. Published online 2018 Jan 25. doi: 10.1038/s41467-017-02796-3
PMCID:
PMC5785521
AbstractArticlePDF–7.7M
11.
Diagnostic Yield of Genetic Testing in Young Athletes With T-Wave Inversion
Nabeel Sheikh, Michael Papadakis, Mathew Wilson, Aneil Malhotra, Carmen Adamuz, Tessa Homfray, Lorenzo Monserrat, Elijah R. Behr, Sanjay Sharma
Circulation. 2018 Sep 18; 138(12): 1184–1194. Published online 2018 Sep 17. doi: 10.1161/CIRCULATIONAHA.118.034208
PMCID:
PMC6147090
AbstractArticlePDF–869K
12.
Semi-automatic detection of myocardial trabeculation using cardiovascular magnetic resonance: correlation with histology and reproducibility in a mouse model of non-compaction
Julien Frandon, Stéphanie Bricq, Zakarya Bentatou, Laetitia Marcadet, Pierre Antoine Barral, Mathieu Finas, Daniel Fagret, Frank Kober, Gilbert Habib, Monique Bernard, Alain Lalande, Lucile Miquerol, Alexis Jacquier
J Cardiovasc Magn Reson. 2018; 20: 70. Published online 2018 Oct 25. doi: 10.1186/s12968-018-0489-0
PMCID:
PMC6201553
AbstractArticlePDF–2.0M
13.
Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction
Almudena Amor-Salamanca, Alfredo Santana Rodríguez, Hazhee Rasoul, José F. Rodríguez-Palomares, Oana Moldovan, Thomas Morris Hey, María Gallego Delgado, David López Cuenca, Daniel de Castro Campos, María Teresa Basurte-Elorz, Rosa Macías-Ruiz, María Eugenia Fuentes Cañamero, Joseph Galvin, Raquel Bilbao Quesada, Luis de la Higuera Romero, Juan Pablo Trujillo-Quintero, Loida María García-Cruz, Ivonne Cárdenas-Reyes, Juan Jiménez-Jáimez, Soledad García-Hernández, María Valverde-Gómez, Iria Gómez-Díaz, Javier Limeres Freire, José M. García-Pinilla, Juan R. Gimeno-Blanes, Konstantinos Savattis, Pablo García-Pavía, Juan Pablo Ochoa
Circ Genom Precis Med. 2024 Apr; 17(2): e004404. Published online 2024 Feb 14. doi: 10.1161/CIRCGEN.123.004404
PMCID:
PMC11019988
AbstractArticlePDF–1023K
14.
Titin‐truncating variants are associated with heart failure events in patients with left ventricular non‐compaction cardiomyopathy
Shijie Li, Ce Zhang, Nana Liu, Hui Bai, Cuihong Hou, Lei Song, Jielin Pu
Clin Cardiol. 2019 May; 42(5): 530–535. Published online 2019 Apr 16. doi: 10.1002/clc.23172
PMCID:
PMC6523007
AbstractArticlePDF–821K
15.
Clinical implications of sarcomere and nonsarcomere gene variants in patients with left ventricular noncompaction cardiomyopathy
Shijie Li, Ce Zhang, Nana Liu, Hui Bai, Cuihong Hou, Jielin Pu
Mol Genet Genomic Med. 2019 Sep; 7(9): e874. Published online 2019 Aug 9. doi: 10.1002/mgg3.874
PMCID:
PMC6732340
AbstractArticlePDF–550K
16.
Expanding the phenotype of STRA6‐related disorder to include left ventricular non‐compaction
Hairui Sun, Shaomei Yu, Xiaoxue Zhou, Lu Han, Hongjia Zhang, Yihua He
Mol Genet Genomic Med. 2020 Sep; 8(9): e1377. Published online 2020 Jun 29. doi: 10.1002/mgg3.1377
PMCID:
PMC7507429
AbstractArticlePDF–515K
17.
Co‐occurrence of orofacial clefts and clubfoot phenotypes in a sub‐Saharan African cohort: Whole‐exome sequencing implicates multiple syndromes and genes
Lord J. J. Gowans, Noura Al Dhaheri, Mary Li, Tamara Busch, Solomon Obiri‐Yeboah, Alexander A. Oti, Daniel K. Sabbah, Fareed K. N. Arthur, Waheed O. Awotoye, Azeez A. Alade, Peter Twumasi, Pius Agbenorku, Gyikua Plange‐Rhule, Thirona Naicker, Peter Donkor, Jeffrey C. Murray, Nara L. M. Sobreira, Azeez Butali
Mol Genet Genomic Med. 2021 Apr; 9(4): e1655. Published online 2021 Mar 14. doi: 10.1002/mgg3.1655
PMCID:
PMC8123728
AbstractArticlePDF–1.1M
18.
Genetic Testing in Pediatric Left Ventricular Noncompaction
Erin M. Miller, Robert B. Hinton, Richard Czosek, Angela Lorts, Ashley Parrott, Amy R. Shikany, Richard F. Ittenbach, Stephanie M. Ware
Circ Cardiovasc Genet. Author manuscript; available in PMC 2021 Sep 9.
Published in final edited form as: Circ Cardiovasc Genet. 2017 Dec; 10(6): e001735. doi: 10.1161/CIRCGENETICS.117.001735
PMCID:
PMC8428628
AbstractArticlePDF–994K
19.
Dilated-Left Ventricular Non-Compaction Cardiomyopathy in a Pediatric Case with SPEG Compound Heterozygous Variants
Hager Jaouadi, Fedoua El Louali, Chloé Wanert, Aline Cano, Caroline Ovaert, Stéphane Zaffran
Int J Mol Sci. 2022 May; 23(9): 5205. Published online 2022 May 6. doi: 10.3390/ijms23095205
PMCID:
PMC9102709
AbstractArticlePDF–2.9M
20.
Establishment of a Dedicated Inherited Cardiomyopathy Clinic: From Challenges to Improved Patients’ Outcome
Emily Smith, Paul D. Thompson, Carolyn Burke‐Martindale, Adaya Weissler‐Snir
J Am Heart Assoc. 2022 May 3; 11(9): e024501. Published online 2022 Apr 26. doi: 10.1161/JAHA.121.024501
PMCID:
PMC9238612
AbstractArticlePDF–668K

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center