Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 32 Records) |
Query Trace: MYL3[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 |
Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives. Human mutation 2009 Mar 30 (3): 363-70. Andersen Paal Skytt, Havndrup Ole, Hougs Lotte, Sørensen Karina M, Jensen Morten, Larsen Lars Allan, Hedley Paula, Thomsen Alex Rojas Bie, Moolman-Smook Johanna, Christiansen Michael, Bundgaard Henni |
The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy. European journal of human genetics : EJHG 2009 Oct 17 (10): 1241-9. Møller Daniel Vega, Andersen Paal Skytt, Hedley Paula, Ersbøll Mads Kristian, Bundgaard Henning, Moolman-Smook Johanna, Christiansen Michael, Køber La |
Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. Circulation. Cardiovascular genetics 2009 Oct 2 (5): 436-41. Kaski Juan Pablo, Syrris Petros, Esteban Maria Teresa Tome, Jenkins Sharon, Pantazis Antonios, Deanfield John E, McKenna William J, Elliott Perry |
Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm. Human genetics 2010 Mar 127 (3): 325-36. LopezJimenez Nelson, Gerber Simon, Popovici Vlad, Mirza Sonia, Copren Kirsten, Ta Linda, Shaw Gary M, Trueb Beat, Slavotinek Anne |
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 |
Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects. PloS one 2011 6 (12): 12. Posch MG, Waldmuller S, Müller M, Scheffold T, Fournier D, Andrade-Navarro MA, De Geeter B, Guillaumont S, Dauphin C, Yousseff D, Schmitt KR, Perrot A, Berger F, Hetzer R, Bouvagnet P, Ozcelik C |
Genetics of hypertrophic cardiomyopathy in Norway. Clinical genetics 2014 Oct 86 (4): 355-60. Berge K E, Leren T |
Significance of sarcomere gene mutations analysis in the end-stage phase of hypertrophic cardiomyopathy. The American journal of cardiology 2014 Sep 114 (5): 769-76. Biagini Elena, Olivotto Iacopo, Iascone Maria, Parodi Maria I, Girolami Francesca, Frisso Giulia, Autore Camillo, Limongelli Giuseppe, Cecconi Massimiliano, Maron Barry J, Maron Martin S, Rosmini Stefania, Formisano Francesco, Musumeci Beatrice, Cecchi Franco, Iacovoni Attilio, Haas Tammy S, Bacchi Reggiani Maria L, Ferrazzi Paolo, Salvatore Francesco, Spirito Paolo, Rapezzi Claud |
A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction. Heart and vessels 2015 Mar 30 (2): 258-64. Tian Tao, Wang Jizheng, Wang Hu, Sun Kai, Wang Yilu, Jia Lei, Zou Yubao, Hui Rutai, Zhou Xianliang, Song L |
Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing. Circulation journal : official journal of the Japanese Circulation Society 2014 78 (12): 2963-71. Gómez Juan, Reguero Julian R, Morís César, Martín María, Alvarez Victoria, Alonso Belén, Iglesias Sara, Coto Eliec |
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 |
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 |
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 |
A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort. International journal of molecular sciences 2016 17 (8): . Rubattu Speranza, Bozzao Cristina, Pennacchini Ermelinda, Pagannone Erika, Musumeci Beatrice Maria, Piane Maria, Germani Aldo, Savio Camilla, Francia Pietro, Volpe Massimo, Autore Camillo, Chessa Lucia |
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 |
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy. PloS one 2017 12 (8): e0181465. Mademont-Soler Irene, Mates Jesus, Yotti Raquel, Espinosa Maria Angeles, Pérez-Serra Alexandra, Fernandez-Avila Ana Isabel, Coll Monica, Méndez Irene, Iglesias Anna, Del Olmo Bernat, Riuró Helena, Cuenca Sofía, Allegue Catarina, Campuzano Oscar, Picó Ferran, Ferrer-Costa Carles, Álvarez Patricia, Castillo Sergio, Garcia-Pavia Pablo, Gonzalez-Lopez Esther, Padron-Barthe Laura, Díaz de Bustamante Aranzazu, Darnaude María Teresa, González-Hevia José Ignacio, Brugada Josep, Fernandez-Aviles Francisco, Brugada Ram |
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 |
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 |
Determining the Pathogenicity of a Genomic Variant of Uncertain Significance Using CRISPR/Cas9 and Human-Induced Pluripotent Stem Cells. Circulation 2018 6 138 (23): 2666-2681. Ma Ning, Zhang Joe Z, Itzhaki Ilanit, Zhang Sophia L, Chen Haodong, Haddad Francois, Kitani Tomoya, Wilson Kitchener D, Tian Lei, Shrestha Rajani, Wu Haodi, Lam Chi Keung, Sayed Nazish, Wu Joseph |
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 |
Prevalence of TTR variants detected by whole-exome sequencing in hypertrophic cardiomyopathy. Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 2019 9 26 (4): 243-247. Lopes Luis R, Futema Marta, Akhtar Mohammed M, Lorenzini Massimiliano, Pittman Alan, Syrris Petros, Elliott Perry |
A Complete Absence of Missense Mutation in Myosin Regulatory and Essential Light Chain Genes of South Indian Hypertrophic and Dilated Cardiomyopathies. Cardiology 2019 1 141 (3): 156-166. Rani Deepa Selvi, Nallari Pratibha, Rani Jhansi, Nizamuddin Sheikh, Seelamneni Thulasamma, Narasimhan Calambur, Thangaraj Kumarasa |
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 |
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 |
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 |
The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye. Anatolian journal of cardiology 2023 7 . Veysel Oktay, Omaç Tüfekçio?lu, Dilek Çicek Y?lmaz, Ersel Onrat, Dilay Karabulut, Murat Çelik, Akif Serhat Balc?o?lu, Mehmet Murat Sucu, Güllü Özdemir, Hakk? Kaya, Mehmet K??, Bar?? Güven, Oktay Ba?dato?lu, Fatma Nihan Turhan Ça?lar, Uygar Ça?da? Yüksel, ?rfan Veysel Düzen, Ahmet Barutçu, Özgüç Semih ?im?ir, ?brahim Ba?ar?c?, Af?in Parspur, Onur Dalg?ç, Fatma Özlem Ar?can Özlük, Mert Evlice, Saim Sa?, Muhammed Furkan Deniz, Arslan Öcal, Emine Gazi, Taner ?en, Osman Özdabako?lu, Nermin Bayar Çak?c?, Eren Ozan Bak?r, Ay?egül Ülgen Kunak, Gizem Çayl?, Aybike Gül Ta?delen, Ercan Ak?it, ?efika Uslu Çil, Hüseyin On |
Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy. European heart journal 2023 7 . Mona Allouba, Roddy Walsh, Alaa Afify, Mohammed Hosny, Sarah Halawa, Aya Galal, Mariam Fathy, Pantazis I Theotokis, Ahmed Boraey, Amany Ellithy, Rachel Buchan, Risha Govind, Nicola Whiffin, Shehab Anwer, Ahmed ElGuindy, James S Ware, Paul J R Barton, Magdi Yacoub, Yasmine Agu |
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- Page last updated:Apr 22, 2024
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