Human Genome Epidemiology Literature Finder
Records 1 - 25 (of 25 Records) |
Query Trace: Cardiomyopathies and MYBPC3[original query] |
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Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study. Circulation 2006 Jun 113 (23): 2697-705. Morita Hiroyuki, Larson Martin G, Barr Scott C, Vasan Ramachandran S, O'Donnell Christopher J, Hirschhorn Joel N, Levy Daniel, Corey Diane, Seidman Christine E, Seidman J G, Benjamin Emelia |
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 |
A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia. Nature genetics 2009 Feb 41 (2): 187-91. Dhandapany Perundurai S, Sadayappan Sakthivel, Xue Yali, Powell Gareth T, Rani Deepa Selvi, Nallari Prathiba, Rai Taranjit Singh, Khullar Madhu, Soares Pedro, Bahl Ajay, Tharkan Jagan Mohan, Vaideeswar Pradeep, Rathinavel Andiappan, Narasimhan Calambur, Ayapati Dharma Rakshak, Ayub Qasim, Mehdi S Qasim, Oppenheimer Stephen, Richards Martin B, Price Alkes L, Patterson Nick, Reich David, Singh Lalji, Tyler-Smith Chris, Thangaraj Kumarasa |
Limited distribution of a cardiomyopathy-associated variant in India. Annals of human genetics 2010 Mar 74 (2): 184-8. Simonson Tatum S, Zhang Yuhua, Huff Chad D, Xing Jinchuan, Watkins W Scott, Witherspoon David J, Woodward Scott R, Jorde Lynn |
Association of 25 bp deletion in MYBPC3 gene with left ventricle dysfunction in coronary artery disease patients. PloS one 2011 6 (9): e24123. Srivastava Anshika, Garg Naveen, Mittal Tulika, Khanna Roopali, Gupta Shipra, Seth Prahlad Kishore, Mittal Balr |
Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation. Circulation. Cardiovascular genetics 2012 Oct . Pan S, Caleshu CA, Dunn KE, Foti MJ, Moran MK, Soyinka O, Ashley EA |
Targeted next-generation sequencing (NGS) of nine candidate genes with custom AmpliSeq in patients and a cardiomyopathy risk group. Clinica chimica acta; international journal of clinical chemistry 2015 Jun 446 132-40. Glotov Andrey S, Kazakov Sergey V, Zhukova Elena A, Alexandrov Anton V, Glotov Oleg S, Pakin Vladimir S, Danilova Maria M, Poliakova Irina V, Niyazova Svetlana S, Chakova Natalia N, Komissarova Svetlana M, Kurnikova Elena A, Sarana Andrey M, Sherbak Sergey G, Sergushichev Alexey A, Shalyto Anatoly A, Baranov Vladislav |
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 |
Role of common sarcomeric gene polymorphisms in genetic susceptibility to left ventricular dysfunction. Journal of genetics 2016 Jun 95 (2): 263-72. Kumar Surendra, Mishra Avshesh, Srivastava Anshika, Bhatt Mansi, Garg N, Agarwal S K, Pande Shantanu, Mittal Balr |
Impact of Genotype on the Occurrence of Atrial Fibrillation in Patients With Hypertrophic Cardiomyopathy. The American journal of cardiology 2016 Jan . Bongini Carolina, Ferrantini Cecilia, Girolami Francesca, Coppini Raffaele, Arretini Anna, Targetti Mattia, Bardi Sara, Castelli Gabriele, Torricelli Francesca, Cecchi Franco, Ackerman Michael J, Padeletti Luigi, Poggesi Corrado, Olivotto Iaco |
Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients. Circulation. Cardiovascular genetics 2017 Apr 10 (2): . Gómez Juan, Lorca Rebeca, Reguero Julian R, Morís César, Martín María, Tranche Salvador, Alonso Belén, Iglesias Sara, Alvarez Victoria, Díaz-Molina Beatriz, Avanzas Pablo, Coto Eliec |
Identification of pathogenic variants in genes related to channelopathy and cardiomyopathy in Korean sudden cardiac arrest survivors. Journal of human genetics 2017 Jun 62 (6): 615-620. Song Ju Sun, Kang Jong-Sun, Kim Young-Eun, Park Seung-Jung, Park Kyoung-Min, Huh June, Kim June Soo, Cho Hana, Ki Chang-Seok, On Young Ke |
Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies. Journal of translational medicine 2018 9 16 (1): 241. Lu Chaoxia, Wu Wei, Liu Fang, Yang Kunqi, Li Jiacheng, Liu Yaping, Wang Rongrong, Si Nuo, Gao Peng, Liu Yongtai, Zhang Shuyang, Zhang X |
Diagnostic Yield of Genetic Testing in Young Athletes With T-Wave Inversion. Circulation 2018 5 138 (12): 1184-1194. Sheikh Nabeel, Papadakis Michael, Wilson Mathew, Malhotra Aneil, Adamuz Carmen, Homfray Tessa, Monserrat Lorenzo, Behr Elijah R, Sharma Sanj |
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 |
Genetic basis of channelopathies and cardiomyopathies in Hong Kong Chinese patients: a 10-year regional laboratory experience. Hong Kong medical journal = Xianggang yi xue za zhi 2018 3 24 (4): 340-349. Mak C M, Chen S Pl, Mok N S, Siu W K, Lee H Hc, Ching C K, Tsui P T, Fong N C, Yuen Y P, Poon W T, Law C Y, Chong Y K, Chan Y W, Yung T C, Fan K Yy, Lam C |
Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype. Human mutation 2019 3 40 (8): 1101-1114. Kolokotronis Konstantinos, Kühnisch Jirko, Klopocki Eva, Dartsch Josephine, Rost Simone, Huculak Cathleen, Mearini Giulia, Störk Stefan, Carrier Lucie, Klaassen Sabine, Gerull Bren |
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 |
Prevalence and Phenotypic Burden of Monogenic Arrhythmias Using Integration of Electronic Health Records With Genetics. Circulation. Genomic and precision medicine 2022 9 15 (5): e003675. Nafissi Navid A, Abdulrahim Jawan W, Kwee Lydia Coulter, Coniglio Amanda C, Kraus William E, Piccini Jonathan P, Daubert James P, Sun Albert Y, Shah Svati |
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 |
Diagnostic yield of genetic testing in heart transplant recipients with prior cardiomyopathy. The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation 2022 5 41 (9): 1218-1227. Boen Hanne M, Loeys Bart L, Alaerts Maaike, Saenen Johan B, Goovaerts Inge, Van Laer Lut, Vorlat Anne, Vermeulen Tom, Franssen Constantijn, Pauwels Patrick, Rodrigus Inez, Heidbuchel Hein, Van Craenenbroeck Emeline |
Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality. JAMA cardiology 2022 5 7 (7): 723-732. Patel Aniruddh P, Dron Jacqueline S, Wang Minxian, Pirruccello James P, Ng Kenney, Natarajan Pradeep, Lebo Matthew, Ellinor Patrick T, Aragam Krishna G, Khera Amit |
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 |
Novel MYBPC3 Mutations in Indian Population with Cardiomyopathies. Pharmacogenomics and personalized medicine 2023 9 16 883-893. Deepa Selvi Rani, Apoorva Kasala, Perundurai S Dhandapany, Uthiralingam Muthusami, Sreejith Kunnoth, Andiappan Rathinavel, Dharma Rakshak Ayapati, Kumarasamy Thangar |
Common- and rare-variant genetic architecture of heart failure across the allele frequency spectrum. medRxiv : the preprint server for health sciences 2023 7 . David S M Lee, John S DePaolo, Krishna G Aragam, Kiran Biddinger, Mitchell Conery, Ozan Dilitikas, Lily Hoffman-Andrews, Renae L Judy, Atlas Khan, Iftikhar Kulo, Mugan J Puckelwartz, Nosheen Reza, Benjamin A Satterfield, Pankhuri Singhal, , Zoltan P Arany, Thomas P Cappola, Eric Carruth, Sharlene M Day, Ron Do, Christopher M Haggarty, Jacob Joseph, Elizabeth McNally, Girish Nadkarni, Anjali T Owens, Daniel J Rader, Marylyn D Ritchie, Yan Sun, Benjamin F Voight, Michael G Levin, Scott M Damrau |
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