HuGE Literature Finder
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| Cardiomyocyte apoptosis contributes to contractile dysfunction in stem cell model of MYH7 E848G hypertrophic cardiomyopathy. bioRxiv : the preprint server for biology 2023 2 . Loiben Alexander M, Chien Wei-Ming, Friedman Clayton E, Chao Leslie S-L, Weber Gerhard, Goldstein Alex, Sniadecki Nathan, Murry Charles E, Yang Kai-Ch |
| Cardiomyocyte Apoptosis Is Associated with Contractile Dysfunction in Stem Cell Model of MYH7 E848G Hypertrophic Cardiomyopathy. International journal of molecular sciences 2023 3 24 (5): . Loiben Alexander M, Chien Wei-Ming, Friedman Clayton E, Chao Leslie S-L, Weber Gerhard, Goldstein Alex, Sniadecki Nathan J, Murry Charles E, Yang Kai-Ch |
| Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification. Circulation. Genomic and precision medicine 2022 Sep 101161CIRCGEN120002981. van der Meulen Marijke H, Herkert Johanna C, den Boer Susanna L, du Marchie Sarvaas Gideon J, Blom Nico A, Ten Harkel Arend D J, Breur Hans M P J, Rammeloo Lukas A J, Tanke Ronald B, Marcelis Carlo, van de Laar Ingrid M B H, Verhagen Judith M A, Lekanne Dit Deprez Ronald H, Barge-Schaapveld Daniela Q C M, Baas Annette F, Sammani Arjan, Christiaans Imke, van Tintelen J Peter, Dalinghaus Michi |
| Metabolite Signature in the Carriers of Pathogenic Genetic Variants for Cardiomyopathy: A Population-Based METSIM Study. Metabolites 2022 May 12 (5): . Ravi Rowmika, Fernandes Silva Lilian, Vangipurapu Jagadish, Maria Maleeha, Raivo Joose, Helisalmi Seppo, Laakso Mark |
| Rare and Common Genetic Variation Underlying the Risk of Hypertrophic Cardiomyopathy in a National Biobank. JAMA cardiology 2022 May . Biddinger Kiran J, Jurgens Sean J, Maamari Dimitri, Gaziano Liam, Choi Seung Hoan, Morrill Valerie N, Halford Jennifer L, Khera Amit V, Lubitz Steven A, Ellinor Patrick T, Aragam Krishna |
| 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 |
| Genotype-Phenotype Correlation in Hypertrophic Cardiomyopathy: New Variant p.Arg652Lys in MYH7. Genes 2022 Feb 13 (2): . Antoniutti Guido, Caimi-Martinez Fiama Giuliana, Álvarez-Rubio Jorge, Morlanes-Gracia Paula, Pons-Llinares Jaume, Rodríguez-Picón Blanca, Fortuny-Frau Elena, Torres-Juan Laura, Heine-Suner Damian, Ripoll-Vera Tom |
| Genetic screening of relatives of decedents experiencing sudden unexpected death: medical examiner's office referrals to a multi-disciplinary cardiogenetics program. Journal of community genetics 2022 10 13 (6): 629-639. Siskind Tamar, Williams Nori, Sebastin Monisha, Marion Robert, McDonald Thomas V, Walsh Christine, Sampson Barbara, Tang Yingying, Clark Bradley |
| Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel. Orphanet journal of rare diseases 2022 10 17 (1): 394. Chen Jia, Li Hong, Guo Sicheng, Yang Zhe, Sun Shaoping, Zeng JunJie, Gou Hongjuan, Chen Yechang, Wang Feng, Lin Yanping, Huang Kun, Yue Hong, Ma Yuting, Lin Yu |
| [Clinical and genetic characteristics of different types of non-obstructive hypertrophic cardiomyopathy]. Zhonghua xin xue guan bing za zhi 2021 6 49 (6): 593-600. Zhang M, Sun X L, Wu G X, Wang D, Wang L M, Wang J Z, Kang L M, Song |
| Association of variants in MYH7, MYBPC3 and TNNT2 with sudden cardiac death-related risk factors in Brazilian patients with hypertrophic cardiomyopathy. Forensic science international. Genetics 2021 2 52 102478. Mori Augusto Akira, Castro Lara Reinel de, Bortolin Raul Hernandes, Bastos Gisele Medeiros, Oliveira Victor Fernandes de, Ferreira Glaucio Monteiro, Hirata Thiago Dominguez Crespo, Fajardo Cristina Moreno, Sampaio Marcelo Ferraz, Moreira Dalmo Antonio Ribeiro, Pachón-Mateos José Carlos, Correia Edileide de Barros, Sousa Amanda Guerra de Moraes Rego, Brión Maria, Carracedo Angel, Hirata Rosario Dominguez Crespo, Hirata Mario Hiroyu |
| Reduced Systolic Function and Not Genetic Variants Determine Outcome in Pediatric and Adult Left Ventricular Noncompaction Cardiomyopathy. Frontiers in pediatrics 2021 9 9 722926. Schultze-Berndt Alina, Kühnisch Jirko, Herbst Christopher, Seidel Franziska, Al-Wakeel-Marquard Nadya, Dartsch Josephine, Theisen Simon, Knirsch Walter, Jenni Rolf, Greutmann Matthias, Oechslin Erwin, Berger Felix, Klaassen Sabi |
| A burden of sarcomere gene variants in fetal-onset patients with left ventricular noncompaction. International journal of cardiology 2020 12 328 122-129. Hirono Keiichi, Hata Yukiko, Ozawa Sayaka Watanabe, Toda Takako, Momoi Nobuo, Fukuda Yutaka, Inuzuka Ryo, Nagamine Hiroki, Sakaguchi Heima, Kurosaki Kenichi, Okabe Mako, Takarada Shinya, Miyao Nariaki, Nakaoka Hideyuki, Ibuki Keijiro, Origasa Hideki, Bowles Neil E, Nishida Naoki, Ichida Fukiko, |
| Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death. Genetics in medicine : official journal of the American College of Medical Genetics 2020 9 23 (1): 86-93. Singer Emma S, Ross Samantha B, Skinner Jon R, Weintraub Robert G, Ingles Jodie, Semsarian Christopher, Bagnall Richard |
| Genomic study of dilated cardiomyopathy in a group of Mexican patients using site-directed next generation sequencing. Molecular genetics & genomic medicine 2020 9 8 (11): e1504. Carnevale Alessandra, Rosas-Madrigal Sandra, Rosendo-Gutiérrez Rigoberto, López-Mora Enrique, Romero-Hidalgo Sandra, Avila-Vazzini Nydia, Jacobo-Albavera Leonor, Domínguez-Pérez Mayra, Vargas-Alarcón Gilberto, Pérez-Villatoro Fernando, Navarrete-Martínez Juana Inés, Villarreal-Molina María Tere |
| Identification of a novel titin-cap/telethonin mutation in a Portuguese family with hypertrophic cardiomyopathy. Revista portuguesa de cardiologia 2020 6 39 (6): 317-327. Toste Alexandra, Perrot Andreas, Özcelik Cemil, Cardim Nu |
| Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing. Journal of clinical medicine 2020 6 9 (6): . Magrì Damiano, Mastromarino Vittoria, Gallo Giovanna, Zachara Elisabetta, Re Federica, Agostoni Piergiuseppe, Giordano Dario, Rubattu Speranza, Forte Maurizio, Cotugno Maria, Torrisi Maria Rosaria, Petrucci Simona, Germani Aldo, Savio Camilla, Maruotti Antonello, Volpe Massimo, Autore Camillo, Piane Maria, Musumeci Beatri |
| Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. American journal of medical genetics. Part A 2020 4 182 (6): 1387-1399. Coban-Akdemir Zeynep H, Charng Wu-Lin, Azamian Mahshid, Paine Ingrid S, Punetha Jaya, Grochowski Christopher M, Gambin Tomasz, Valdes Santiago O, Cannon Bryan, Zapata Gladys, Hernandez Patricia P, Jhangiani Shalini, Doddapaneni Harsha, Hu Jianhong, Boricha Fatima, Muzny Donna M, Boerwinkle Eric, Yang Yaping, Gibbs Richard A, Posey Jennifer E, Wehrens Xander H T, Belmont John W, Kim Jeffrey J, Miyake Christina Y, Lupski James R, Lalani Seema |
| Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy. ESC heart failure 2019 Feb . Jääskeläinen Pertti, Vangipurapu Jagadish, Raivo Joose, Kuulasmaa Teemu, Heliö Tiina, Aalto-Setälä Katriina, Kaartinen Maija, Ilveskoski Erkki, Vanninen Sari, Hämäläinen Liisa, Melin John, Kokkonen Jorma, Nieminen Markku S, , Laakso Markku, Kuusisto Johan |
| Clinical and ECG variables to predict the outcome of genetic testing in hypertrophic cardiomyopathy. European journal of medical genetics 2019 9 63 (3): 103754. Robyns Tomas, Breckpot Jeroen, Nuyens Dieter, Vandenberk Bert, Corveleyn Anniek, Kuiperi Cuno, Van Aelst Lucas, Van Cleemput Johan, Willems R |
| Defining genotype-phenotype relationships in patients with hypertrophic cardiomyopathy using cardiovascular magnetic resonance imaging. PloS one 2019 14 (6): e0217612. Miller Robert J H, Heidary Shahriar, Pavlovic Aleksandra, Schlachter Audrey, Dash Rajesh, Fleischmann Dominik, Ashley Euan A, Wheeler Matthew T, Yang Phillip |
| MYH7 Gene-Related Mutation p.V878L Identified in a Chinese Family with Hypertrophic Cardiomyopathy. International heart journal 2019 11 60 (6): 1415-1420. Du Yuan, Wang Ya, Han Xiu, Feng Zhanbin, Ma Aiq |
| Genetic characterization and genotype-phenotype associations in a large cohort of patients with hypertrophic cardiomyopathy - An ancillary study of the Portuguese registry of hypertrophic cardiomyopathy. International journal of cardiology 2018 Dec . Lopes Luis Rocha, Brito Dulce, Belo Adriana, Cardim Nuno, |
| Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy. Journal of human genetics 2018 Jun . Hayashi Takeharu, Tanimoto Kousuke, Hirayama-Yamada Kayoko, Tsuda Etsuko, Ayusawa Mamoru, Nunoda Shinichi, Hosaki Akira, Kimura Akino |
| 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 |
| Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy. Journal of the American College of Cardiology 2018 2 71 (7): 711-722. van Waning Jaap I, Caliskan Kadir, Hoedemaekers Yvonne M, van Spaendonck-Zwarts Karin Y, Baas Annette F, Boekholdt S Matthijs, van Melle Joost P, Teske Arco J, Asselbergs Folkert W, Backx Ad P C M, du Marchie Sarvaas Gideon J, Dalinghaus Michiel, Breur Johannes M P J, Linschoten Marijke P M, Verlooij Laura A, Kardys Isabella, Dooijes Dennis, Lekanne Deprez Ronald H, IJpma Arne S, van den Berg Maarten P, Hofstra Robert M W, van Slegtenhorst Marjon A, Jongbloed Jan D H, Majoor-Krakauer Daniel |
| Utility of genetics for risk stratification in pediatric hypertrophic cardiomyopathy. Clinical genetics 2017 Oct . Mathew J, Zahavich L, Lafreniere-Roula M, Wilson J, George K, Benson L, Bowdin S, Mital |
| Genetic anticipation in a special form of hypertrophic cardiomyopathy with sudden cardiac death in a family with 74 members across 5 generations. Medicine 2017 Mar 96 (11): e6249. Guo Xiying, Fan Chaomei, Wang Yanping, Wang Miao, Cai Chi, Yang Yinjian, Zhao Shihua, Duan Fujian, Li Yis |
| Clinical outcomes associated with sarcomere mutations in hypertrophic cardiomyopathy: a meta-analysis on 7675 individuals. Clinical research in cardiology : official journal of the German Cardiac Society 2017 8 107 (1): 30-41. Sedaghat-Hamedani Farbod, Kayvanpour Elham, Tugrul Oguz Firat, Lai Alan, Amr Ali, Haas Jan, Proctor Tanja, Ehlermann Philipp, Jensen Katrin, Katus Hugo A, Meder Benjam |
| 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 |
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- Page last updated:Mar 22, 2023
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