HuGE Literature Finder
Records
1
-
12
| Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy. Journal of personalized medicine 2022 Apr 12 (5): . Kurzlechner Leonie M, Jones Edward G, Berkman Amy M, Tadros Hanna J, Rosenfeld Jill A, Yang Yaping, Tunuguntla Hari, Allen Hugh D, Kim Jeffrey J, Landstrom Andrew |
| Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3. Genetics in medicine : official journal of the American College of Medical Genetics 2020 12 23 (4): 787-792. Osborn Daniel Peter Sayer, Emrahi Leila, Clayton Joshua, Tabrizi Mehrnoush Toufan, Wan Alex Yui Bong, Maroofian Reza, Yazdchi Mohammad, Garcia Michael Leon Enrique, Galehdari Hamid, Hesse Camila, Shariati Gholamreza, Mazaheri Neda, Sedaghat Alireza, Goullée Hayley, Laing Nigel, Jamshidi Yalda, Tajsharghi Ho |
| Identification of sarcomeric variants in probands with a clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC). Journal of cardiovascular electrophysiology 2018 Apr . Murray Brittney, Hoorntje Edgar T, Te Riele Anneline S J M, Tichnell Crystal, van der Heijden Jeroen F, Tandri Harikrishna, van den Berg Maarten P, Jongbloed Jan D H, Wilde Arthur A M, Hauer Richard N W, Calkins Hugh, Judge Daniel P, James Cynthia A, van Tintelen J Peter, Dooijes Denn |
| High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation. PloS one 2017 12 12 (12): e0189489. Klauke Baerbel, Gaertner-Rommel Anna, Schulz Uwe, Kassner Astrid, Zu Knyphausen Edzard, Laser Thorsten, Kececioglu Deniz, Paluszkiewicz Lech, Blanz Ute, Sandica Eugen, van den Bogaerdt Antoon J, van Tintelen J Peter, Gummert Jan, Milting Hendr |
| Spectrum of Mutations in Hypertrophic Cardiomyopathy Genes Among Tunisian Patients. Genetic testing and molecular biomarkers 2016 Nov 20 (11): 674-679. Jaafar Nawel, Gómez Juan, Kammoun Ikram, Zairi Ihsen, Amara Wael Ben, Kachboura Salem, Kraiem Sondes, Hammami Mohamed, Iglesias Sara, Alonso Belén, Coto Eliec |
| Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system. International journal of molecular medicine 2016 Apr . Zhao Yue, Cao Hong, Song Yindi, Feng Yue, Ding Xiaoxue, Pang Mingjie, Zhang Yunmei, Zhang Hong, Ding Jiahuan, Xia Xuesh |
| Targeted next-generation sequencing of candidate genes reveals novel mutations in patients with dilated cardiomyopathy. International journal of molecular medicine 2015 Oct . Zhao Yue, Feng Yue, Zhang Yun-Mei, Ding Xiao-Xue, Song Yu-Zhu, Zhang A-Mei, Liu Li, Zhang Hong, Ding Jia-Huan, Xia Xue-Sh |
| Coexistence of Digenic Mutations in Both Thin (TPM1) and Thick (MYH7) Filaments of Sarcomeric Genes Leads to Severe Hypertrophic Cardiomyopathy in a South Indian FHCM. DNA and cell biology 2015 May 34 (5): 350-9. Selvi Rani Deepa, Nallari Pratibha, Dhandapany Perundurai S, Rani Jhansi, Meraj Khunza, Ganesan Mala, Narasimhan Calambur, Thangaraj Kumarasa |
| Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. Journal of the American College of Cardiology 2010 Apr 55 (14): 1444-53. Girolami Francesca, Ho Carolyn Y, Semsarian Christopher, Baldi Massimo, Will Melissa L, Baldini Katia, Torricelli Francesca, Yeates Laura, Cecchi Franco, Ackerman Michael J, Olivotto Iaco |
| Shared genetic causes of cardiac hypertrophy in children and adults. The New England journal of medicine 2008 May 358 (18): 1899-908. Morita Hiroyuki, Rehm Heidi L, Menesses Andres, McDonough Barbara, Roberts Amy E, Kucherlapati Raju, Towbin Jeffrey A, Seidman J G, Seidman Christine |
| Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. Journal of medical genetics 2005 Oct 42 (10): e59. Ingles J, Doolan A, Chiu C, Seidman J, Seidman C, Semsarian |
| Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy. European journal of human genetics : EJHG 2002 Nov 10 (11): 741-8. Kabaeva Zhyldyz T, Perrot Andreas, Wolter Bastian, Dietz Rainer, Cardim Nuno, Correia João Martins, Schulte Hagen D, Aldashev Almaz A, Mirrakhimov Mirsaid M, Osterziel Karl Jos |
- Page last reviewed:Feb 1, 2023
- Page last updated:Mar 28, 2023
- Content source: