Human Genome Epidemiology Literature Finder
Records 1 - 28 (of 28 Records) |
Query Trace: Cardiomyopathies and MYH7[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 |
Genotype phenotype correlations of cardiac beta-myosin heavy chain mutations in Indian patients with hypertrophic and dilated cardiomyopathy. Molecular and cellular biochemistry 2009 Jan 321 (1-2): 189-96. Rai Taranjit Singh, Ahmad Shamim, Bahl Ajay, Ahuja Monica, Ahluwalia Tarunveer Singh, Singh Balvinder, Talwar K K, Khullar Mad |
Molecular genetic and functional characterization implicate muscle-restricted coiled-coil gene (MURC) as a causal gene for familial dilated cardiomyopathy. Circulation. Cardiovascular genetics 2011 Aug 4 (4): 349-58. Rodriguez Gabriela, Ueyama Tomomi, Ogata Takehiro, Czernuszewicz Grazyna, Tan Yanli, Dorn Gerald W, Bogaev Roberta, Amano Katsuya, Oh Hidemasa, Matsubara Hiroaki, Willerson James T, Marian Ali |
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 |
Phenotype and prognostic correlations of the converter region mutations affecting the ß myosin heavy chain. Heart (British Cardiac Society) 2015 Jul 101 (13): 1047-53. García-Giustiniani Diego, Arad Michael, Ortíz-Genga Martín, Barriales-Villa Roberto, Fernández Xusto, Rodríguez-García Isabel, Mazzanti Andrea, Veira Elena, Maneiro Emilia, Rebolo Paula, Lesende Iván, Cazón Laura, Freimark Dov, Gimeno-Blanes Juan Ramón, Seidman Christine, Seidman Jonathan, McKenna William, Monserrat Loren |
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 |
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 |
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 |
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 |
Targeted panel sequencing in adult patients with left ventricular non-compaction reveals a large genetic heterogeneity. Clinical genetics 2018 11 95 (3): 356-367. Richard Pascale, Ader Flavie, Roux Maguelonne, Donal Erwan, Eicher Jean-Christophe, Aoutil Nadia, Huttin Olivier, Selton-Suty Christine, Coisne Damien, Jondeau Guillaume, Damy Thibaud, Mansencal Nicolas, Casalta Anne-Claire, Michel Nicolas, Haentjens Julie, Faivre Laurence, Lavoute Cecile, Nguyen Karine, Tregouët David-Alexandre, Habib Gilbert, Charron Philip |
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 |
Epidemiology and clinical characteristics of atrial fibrillation in patients with inherited heart diseases. Journal of cardiovascular electrophysiology 2020 1 31 (2): 465-473. Butters Alexandra, Isbister Julia C, Medi Caroline, Raju Hariharan, Turner Christian, Sy Raymond W, Semsarian Christopher, Ingles Jod |
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies. Genetics in medicine : official journal of the American College of Medical Genetics 2021 Jan . Mazzarotto Francesco, Hawley Megan H, Beltrami Matteo, Beekman Leander, de Marvao Antonio, McGurk Kathryn A, Statton Ben, Boschi Beatrice, Girolami Francesca, Roberts Angharad M, Lodder Elisabeth M, Allouba Mona, Romeih Soha, Aguib Yasmine, Baksi A John, Pantazis Antonis, Prasad Sanjay K, Cerbai Elisabetta, Yacoub Magdi H, O'Regan Declan P, Cook Stuart A, Ware James S, Funke Birgit, Olivotto Iacopo, Bezzina Connie R, Barton Paul J R, Walsh Rod |
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 |
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 |
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 |
Penetrance and Prognosis of MYH7 Variant-Associated Cardiomyopathies: Results From a Dutch Multicenter Cohort Study. JACC. Heart failure 2023 8 . Mark Jansen, Remco de Brouwer, Fahima Hassanzada, Angela E Schoemaker, Amand F Schmidt, Maria D Kooijman-Reumerman, Valentina Bracun, Martijn G Slieker, Dennis Dooijes, Alexa M C Vermeer, Arthur A M Wilde, Ahmad S Amin, Ronald H Lekanne Deprez, Johanna C Herkert, Imke Christiaans, Rudolf A de Boer, Jan D H Jongbloed, J Peter van Tintelen, Folkert W Asselbergs, Annette F Ba |
A Family with Myh7 Mutation and Different Forms of Cardiomyopathies. Biomedicines 2023 7 11 (7): . Bianca Iulia Catrina, Florina Batar, Georgiana Baltat, Cornel Ioan Bitea, Andreea Puia, Oana Stoia, Sorin Radu Fleac?, Minodora Teodo |
Early genetic screening and cardiac intervention in patients with cardiomyopathies in a multidisciplinary clinic. ESC heart failure 2024 12 . Chandu Sadasivan, Luke R Gagnon, Deepan Hazra, Kaiming Wang, Erik Youngson, Jissy Thomas, Anita Y M Chan, D Ian Paterson, Finlay A McAlister, Tara Dzwiniel, Wayne Tymchak, Susan Christian, Gavin Y Oud |
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