Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 107 Records) |
Query Trace: Disease and MYH7[original query] |
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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 |
"Concealed cardiomyopathy" as a cause of previously unexplained sudden cardiac arrest. International journal of cardiology 2020 9 324 96-101. Isbister Julia C, Nowak Natalie, Butters Alexandra, Yeates Laura, Gray Belinda, Sy Raymond W, Ingles Jodie, Bagnall Richard D, Semsarian Christoph |
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 |
Differential contributions of sarcomere and mitochondria-related multigene variants to the endophenotype of hypertrophic cardiomyopathy. Mitochondrion 2020 5 53 48-56. Chung Hyemoon, Kim Yoonjung, Cho Sun-Mi, Lee Ho-Joon, Park Chul-Hwan, Kim Jong-Youn, Lee Sang-Hak, Min Pil-Ki, Yoon Young Won, Lee Byoung Kwon, Kim Woo-Shik, Hong Bum-Kee, Kim Tae Hoon, Rim Se-Joong, Kwon Hyuck Moon, Choi Eui-Young, Lee Kyung |
Yield of Rare Variants Detected by Targeted Next-Generation Sequencing in a Cohort of Romanian Index Patients with Hypertrophic Cardiomyopathy. Diagnostics (Basel, Switzerland) 2020 Dec 10 (12): . Micheu Miruna Mihaela, Popa-Fotea Nicoleta-Monica, Oprescu Nicoleta, Bogdan Stefan, Dan Monica, Deaconu Alexandru, Dorobantu Lucian, Gheorghe-Fronea Oana, Greavu Maria, Iorgulescu Corneliu, Scafa-Udriste Alexandru, Ticulescu Razvan, Vatasescu Radu Gabriel, Doroban?u Mar |
Genetic determinants of clinical phenotype in hypertrophic cardiomyopathy. BMC cardiovascular disorders 2020 12 20 (1): 516. Velicki Lazar, Jakovljevic Djordje G, Preveden Andrej, Golubovic Miodrag, Bjelobrk Marija, Ilic Aleksandra, Stojsic Snezana, Barlocco Fausto, Tafelmeier Maria, Okwose Nduka, Tesic Milorad, Brennan Paul, Popovic Dejana, Ristic Arsen, MacGowan Guy A, Filipovic Nenad, Maier Lars S, Olivotto Iaco |
A study of the phenotypic variability and disease progression in Laing myopathy through the evaluation of muscle imaging. European journal of neurology 2020 11 28 (4): 1356-1365. Muelas Nuria, Frasquet Marina, Más-Estellés Fernando, Martí Pilar, Martínez-Vicente Laura, Sevilla Teresa, Azorín Inmaculada, Poyatos-García Javier, Argente-Escrig Herminia, Vílchez Roger, Vázquez-Costa Juan F, Bataller Luis, Vilchez Juan |
Increased Cancer Prevalence in Peripartum Cardiomyopathy. JACC. CardioOncology 2021 8 1 (2): 196-205. Pfeffer Tobias J, Schlothauer Stella, Pietzsch Stefan, Schaufelberger Maria, Auber Bernd, Ricke-Hoch Melanie, List Manuel, Berliner Dominik, Abou Moulig Valeska, König Tobias, Arany Zolt, Sliwa Karen, Bauersachs Johann, Hilfiker-Kleiner Deni |
Pathogenic Variants Associated With Dilated Cardiomyopathy Predict Outcome in Pediatric Myocarditis. Circulation. Genomic and precision medicine 2021 7 14 (4): e003250. Seidel Franziska, Holtgrewe Manuel, Al-Wakeel-Marquard Nadya, Opgen-Rhein Bernd, Dartsch Josephine, Herbst Christopher, Beule Dieter, Pickardt Thomas, Klingel Karin, Messroghli Daniel, Berger Felix, Schubert Stephan, Kühnisch Jirko, Klaassen Sabi |
[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 |
Absence of known feline MYH7 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy. Animal genetics 2021 5 52 (4): 542-544. O'Donnell K, Adin D, Atkins C E, DeFrancesco T, Keene B W, Tou S, Meurs K |
The Influence of Genotype on the Phenotype, Clinical Course, and Risk of Adverse Events in Children with Hypertrophic Cardiomyopathy. Heart failure clinics 2021 11 18 (1): 1-8. Girolami Francesca, Passantino Silvia, Verrillo Federica, Palinkas Eszter Dalma, Limongelli Giuseppe, Favilli Silvia, Olivotto Iaco |
Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. Journal of neurology 2021 1 268 (6): 2192-2207. Chakrabarty Sanjiban, Govindaraj Periyasamy, Sankaran Bindu Parayil, Nagappa Madhu, Kabekkodu Shama Prasada, Jayaram Pradyumna, Mallya Sandeep, Deepha Sekar, Ponmalar J N Jessiena, Arivinda Hanumanthapura R, Meena Angamuthu Kanikannan, Jha Rajan Kumar, Sinha Sanjib, Gayathri Narayanappa, Taly Arun B, Thangaraj Kumarasamy, Satyamoorthy Kapaet |
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 |
Whole-exome sequencing reveals a comprehensive germline mutation landscape and identifies twelve novel predisposition genes in Chinese prostate cancer patients. PLoS genetics 2022 Sep 18 (9): e1010373. Liang Yonghao, Chiu Peter Ka-Fung, Zhu Yao, Wong Christine Yim-Ping, Xiong Qing, Wang Lin, Teoh Jeremy Yuen-Chun, Cao Qin, Wei Yu, Ye Ding-Wei, Tsui Stephen Kwok-Wing, Ng Chi-F |
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 |
The Genetic Architecture of Hypertrophic Cardiomyopathy in Hungary: Analysis of 242 Patients with a Panel of 98 Genes. Diagnostics (Basel, Switzerland) 2022 May 12 (5): . Sepp Róbert, Hategan Lidia, Csányi Beáta, Borbás János, Tringer Annamária, Pálinkás Eszter Dalma, Nagy Viktória, Takács Hedvig, Latinovics Dóra, Nyolczas Noémi, Pálinkás Attila, Faludi Réka, Rábai Miklós, Szabó Gábor Tamás, Czuriga Dániel, Balogh László, Halmosi Róbert, Borbély Attila, Habon Tamás, Heged?s Zoltán, Nagy Istv |
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 |
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 |
Circulating miR-499a-5p Is a Potential Biomarker of MYH7-Associated Hypertrophic Cardiomyopathy. International journal of molecular sciences 2022 4 23 (7): . Baulina Natalia, Pisklova Maria, Kiselev Ivan, Chumakova Olga, Zateyshchikov Dmitry, Favorova Ol |
Rare Genetic Variants Associated With Myocardial Fibrosis: Multi-Ethnic Study of Atherosclerosis. Frontiers in cardiovascular medicine 2022 3 9 804788. Shabani Mahsima, Dutta Diptavo, Ambale-Venkatesh Bharath, Post Wendy S, Taylor Kent D, Rich Stephen S, Wu Colin O, Pereira Naveen L, Shah Sanjiv J, Chatterjee Nilanjan, Rotter Jerome I, Arking Dan E, Lima Joao A |
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 |
MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset. Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation 2023 7 . Luisa Marsili, Freyja H M van Lint, Francesco Russo, Karin Y van Spaendonck-Zwarts, Flavie Ader, Marie-Line Bichon, Laurence Faivre, Arjan C Houweling, Bertrand Isidor, Ronald H Lekanne Deprez, Moniek G P J Cox, Arthur A M Wilde, Benoit Mazel, Sandra Mercier, Dennis Dooijes, Gilles Millat, Karine Nguyen, Jan G Post, Pascale Richard, Irma van de Beek, Alexa M C Vermeer, Ludolf Boven, Jan D H Jongbloed, J Peter van Tintelen, |
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 |
Case-control association study of congenital heart disease from a tertiary paediatric cardiac centre from North India. BMC pediatrics 2023 6 23 (1): 290. Prachi Kukshal, Radha O Joshi, Ajay Kumar, Shadab Ahamad, Prabhatha Rashmi Murthy, Yogesh Sathe, Krishna Manohar, Soma Guhathakurta, Subramanian Chellapp |
Genetic profile and genotype-phenotype correlations in childhood cardiomyopathy. Archives of cardiovascular diseases 2023 5 . Chloé Wanert, Fedoua El Louali, Sarab Al Dybiat, Karine Nguyen, Stéphane Zaffran, Caroline Ovae |
End-stage Hypertrophic Cardiomyopathy with Advanced Heart Failure in Patients Carrying MYH7 R453 Variants: A Case Series. Internal medicine (Tokyo, Japan) 2023 3 . Naito Susumu, Higo Shuichiro, Kameda Satoshi, Ogawa Shou, Tabata Tomoka, Akazawa Yasuhiro, Nakamura Daisuke, Nakamoto Kei, Sera Fusako, Kuramoto Yuki, Aasano Yoshihiro, Hikoso Shungo, Miyagawa Shigeru, Sakata Yasus |
Identification of concealed cardiomyopathy using next-generation sequencing-based genetic testing in Korean patients initially diagnosed with idiopathic ventricular fibrillation. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2023 11 25 (11): . Joo Hee Jeong, Yun Gi Kim, Suk-Kyu Oh, Hyoung Seok Lee, Yun Young Choi, Kyongjin Min, Jaemin Shim, Yae Min Park, Jun-Hyung Kim, Yong-Seog Oh, Nam-Ho Kim, Hui-Nam Pak, Young Keun On, Hyung Wook Park, Gyo-Seung Hwang, Dae-Kyeong Kim, Young-Ah Park, Hyoung-Seob Park, Yongkeun Cho, Seil Oh, Jong-Il Choi, Young-Hoon K |
Sarcomeric gene variants among Indians with hypertrophic cardiomyopathy: A scoping review. The Indian journal of medical research 2023 10 158 (2): 119-135. Linda Koshy, Sanjay Ganapathi, Panniyammakal Jeemon, M Madhuma, Y Vysakh, L R Lakshmikanth, Sivadasanpillai Harikrishn |
Whole exome germline sequencing in early-onset prostate cancer patients: Genomic findings and clinical outcomes. The Prostate 2023 10 . Nava Siegelmann-Danieli, Victoria Neiman, Avital Bareket-Samish, Racheli Berger, Asaf Peretz, Hillel Alapi, Erez Tsur, Tal Patalon, Daniella Beller, Galit Rimler, Gabriel Chodick, Mordechai Shoh |
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- Page last updated:Apr 22, 2024
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