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| Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants. International journal of molecular sciences 2023 2 24 (4): . Jansen Mark, Schuldt Maike, van Driel Beau O, Schmidt Amand F, Christiaans Imke, van der Crabben Saskia N, Hoedemaekers Yvonne M, Dooijes Dennis, Jongbloed Jan D H, Boven Ludolf G, Deprez Ronald H Lekanne, Wilde Arthur A M, Jans Judith J M, van der Velden Jolanda, de Boer Rudolf A, van Tintelen J Peter, Asselbergs Folkert W, Baas Annette |
| 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 |
| Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank. Nature genetics 2022 Feb . Jurgens Sean J, Choi Seung Hoan, Morrill Valerie N, Chaffin Mark, Pirruccello James P, Halford Jennifer L, Weng Lu-Chen, Nauffal Victor, Roselli Carolina, Hall Amelia W, Oetjens Matthew T, Lagerman Braxton, vanMaanen David P, , Aragam Krishna G, Lunetta Kathryn L, Haggerty Christopher M, Lubitz Steven A, Ellinor Patrick |
| Genetic Determinants of Sudden Unexpected Death in Pediatrics. Genetics in medicine : official journal of the American College of Medical Genetics 2022 1 24 (4): 839-850. Koh Hyun Yong, Haghighi Alireza, Keywan Christine, Alexandrescu Sanda, Plews-Ogan Erin, Haas Elisabeth A, Brownstein Catherine A, Vargas Sara O, Haynes Robin L, Berry Gerard T, Holm Ingrid A, Poduri Annapurna H, Goldstein Richard |
| 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 |
| Implications of structural right ventricular involvement in patients with hypertrophic cardiomyopathy. European heart journal. Quality of care & clinical outcomes 2022 2 9 (1): 34-41. Zhang Yu, Zhu Yuming, Zhang Mo, Liu Jie, Wu Guixin, Wang Jizheng, Sun Xiaolu, Wang Dong, Jiang Wen, Xu Lianjun, Kang Lianming, Song L |
| MicroRNA expression profiles in familial hypertrophic cardiomyopathy with myosin-binding protein C3 (MYBPC3) gene mutations. BMC cardiovascular disorders 2022 6 22 (1): 278. Lin Li-Rong, Hu Xue-Qun, Lu Li-Hong, Dai Jia-Zhen, Lin Ning-Ning, Wang Re-Hua, Xie Zhang-Xin, Chen Xue-M |
| BIO FOr CARE: biomarkers of hypertrophic cardiomyopathy development and progression in carriers of Dutch founder truncating MYBPC3 variants-design and status. Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation 2021 Feb . Jansen M, Christiaans I, van der Crabben S N, Michels M, Huurman R, Hoedemaekers Y M, Dooijes D, Jongbloed J D H, Boven L G, Lekanne Deprez R H, Wilde A A M, Jans J J M, van der Velden J, de Boer R A, van Tintelen J P, Asselbergs F W, Baas A |
| [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 |
| Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes. PeerJ 2021 2 9 e10711. Guelly Christian, Abilova Zhannur, Nuralinov Omirbek, Panzitt Katrin, Akhmetova Ainur, Rakhimova Saule, Kozhamkulov Ulan, Kairov Ulykbek, Molkenov Askhat, Seisenova Ainur, Trajanoski Slave, Abildinova Rashbayeva Gulzhaina, Kaussova Galina, Windpassinger Christian, Lee Joseph H, Zhumadilov Zhaxybay, Bekbossynova Makhabbat, Akilzhanova Ain |
| 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 |
| Targeting the population for gene therapy with MYBPC3. Journal of molecular and cellular cardiology 2020 Oct . Carrier Luc |
| 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 |
| 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 |
| MYBPC3 Haplotype Linked to Hypertrophic Cardiomyopathy in Rhesus Macaques (Macaca mulatta). Comparative medicine 2020 8 70 (5): 358-367. Oldt Robert F, Bussey Kimberly J, Settles Matthew L, Fass Joseph N, Roberts Jeffrey A, Reader J Rachel, Komandoor Srivathsan, Abrich Victor A, Kanthaswamy Sreethar |
| 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 |
| Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy. Circulation. Genomic and precision medicine 2020 8 13 (5): 396-405. Helms Adam S, Thompson Andrea D, Glazier Amelia A, Hafeez Neha, Kabani Samat, Rodriguez Juliani, Yob Jaime M, Woolcock Helen, Mazzarotto Francesco, Lakdawala Neal K, Wittekind Samuel G, Pereira Alexandre C, Jacoby Daniel L, Colan Steven D, Ashley Euan A, Saberi Sara, Ware James S, Ingles Jodie, Semsarian Christopher, Michels Michelle, Olivotto Iacopo, Ho Carolyn Y, Day Sharlene |
| 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 |
| Minimal inflammatory foci of unknown etiology may be a tentative sign of early stage inherited cardiomyopathy. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2019 4 32 (9): 1281-1290. Hata Yukiko, Hirono Keiichi, Yamaguchi Yoshiaki, Ichida Fukiko, Oku Yuko, Nishida Nao |
| Reevaluation of genetic variants previously associated with arrhythmogenic right ventricular cardiomyopathy integrating population-based cohorts and proteomics data. Clinical genetics 2019 8 96 (6): 506-514. Ye Johan Z, Delmar Mario, Lundby Alicia, Olesen Morten |
| 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 |
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- Page last updated:Mar 22, 2023
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