Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 75 Records) |
Query Trace: TNNI3[original query] |
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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 |
Role of Whole-exome Sequencing in Phenotype Classification and Clinical Treatment of Pediatric Restrictive Cardiomyopathy. Chinese medical journal 2017 11 130 (23): 2823-2828. Ding Wen-Hong, Han Ling, Xiao Yan-Yan, Mo Ying, Yang Jing, Wang Xiao-Fang, Jin M |
Coverage and diagnostic yield of Whole Exome Sequencing for the Evaluation of Cases with Dilated and Hypertrophic Cardiomyopathy. Scientific reports 2018 7 8 (1): 10846. Mak Timothy Shin Heng, Lee Yee-Ki, Tang Clara S, Hai JoJo S H, Ran Xinru, Sham Pak-Chung, Tse Hung-F |
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 |
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, |
Sarcomere variants in arrhythmogenic cardiomyopathy: Pathogenic factor or bystander? Gene 2019 Mar 687 82-89. Chen Kai, Rao Man, Guo Guangran, Chen Xiao, Chen Liang, Song Jiangpi |
Presence of Hypertrophic Cardiomyopathy Related Gene Mutations and Clinical Manifestations in Vietnamese Patients With Hypertrophic Cardiomyopathy. Circulation journal : official journal of the Japanese Circulation Society 2019 Jul . Tran Vu Minh Thu, Nguyen Thuy Vy, Huynh Nha Van, Nguyen Thai Hoang Tam, Pham Nguyen Vinh, Ho Huynh Thuy Duo |
Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3. Clinical genetics 2019 Sep . Kühnisch Jirko, Herbst Christopher, Al-Wakeel-Marquard Nadya, Dartsch Josephine, Holtgrewe Manuel, Baban Anwar, Mearini Giulia, Hardt Juliane, Kolokotronis Konstantinos, Gerull Brenda, Carrier Lucie, Beule Dieter, Schubert Stephan, Messroghli Daniel, Degener Franziska, Berger Felix, Klaassen Sabi |
Lifelong Clinical Impact of the Presence of Sarcomere Gene Mutation in Japanese Patients With Hypertrophic Cardiomyopathy. Circulation journal : official journal of the Japanese Circulation Society 2020 8 84 (10): 1846-1853. Nakashima Yasuteru, Kubo Toru, Sugiura Kenta, Ochi Yuri, Takahashi Asa, Baba Yuichi, Hirota Takayoshi, Yamasaki Naohito, Kimura Akinori, Doi Yoshinori L, Kitaoka Hiroa |
Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients. Circulation. Genomic and precision medicine 2020 8 13 (5): 424-434. Pua Chee Jian, Tham Nevin, Chin Calvin W L, Walsh Roddy, Khor Chiea Chuen, Toepfer Christopher N, Repetti Giuliana G, Garfinkel Amanda C, Ewoldt Jourdan F, Cloonan Paige, Chen Christopher S, Lim Shi Qi, Cai Jiashen, Loo Li Yang, Kong Siew Ching, Chiang Charleston W K, Whiffin Nicola, de Marvao Antonio, Lio Pei Min, Hii An An, Yang Cheng Xi, Le Thu Thao, Bylstra Yasmin, Lim Weng Khong, Teo Jing Xian, Padilha Kallyandra, Silva Gabriela V, Pan Bangfen, Govind Risha, Buchan Rachel J, Barton Paul J R, Tan Patrick, Foo Roger, Yip James W L, Wong Raymond C C, Chan Wan Xian, Pereira Alexandre C, Tang Hak Chiaw, Jamuar Saumya Shekhar, Ware James S, Seidman Jonathan G, Seidman Christine E, Cook Stuart |
Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers. Journal of the American College of Cardiology 2020 8 76 (5): 550-559. Lorenzini Massimiliano, Norrish Gabrielle, Field Ella, Ochoa Juan Pablo, Cicerchia Marcos, Akhtar Mohammed M, Syrris Petros, Lopes Luis R, Kaski Juan Pablo, Elliott Perry |
Genotype-Related Clinical Characteristics and Myocardial Fibrosis and their Association with Prognosis in Hypertrophic Cardiomyopathy. Journal of clinical medicine 2020 6 9 (6): . Kim Hyung Yoon, Park Jong Eun, Lee Sang-Chol, Jeon Eun-Seok, On Young Keun, Kim Sung Mok, Choe Yeon Hyeon, Ki Chang-Seok, Kim Jong-Won, Kim Kye H |
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 |
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 |
A Pilot Study on the Whole Exome Sequencing of Prostate Cancer in the Indian Phenotype Reveals Distinct Polymorphisms. Frontiers in genetics 2020 11 874. Gupta Ayam, Shukla Nidhi, Nehra Mamta, Gupta Sonal, Malik Babita, Mishra Ashwani Kumar, Vijay Maneesh, Batra Jyotsna, Lohiya Nirmal Kumar, Sharma Devendra, Suravajhala Prashan |
[Identification of variants in TNNI3 gene in two children with restrictive cardiomyopathy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 8 38 (8): 731-734. Jia Lijuan, Chen Yuanying, Hao Chanjuan, Guo Ruolan, Liu Yanjie, Li Wei, Guo Jun, Feng Yingj |
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 |
Molecular analysis of dilated and left ventricular noncompaction cardiomyopathies in Egyptian children. Cardiology in the young 2021 5 32 (2): 295-300. Mehaney Dina A, Haghighi Alireza, Embaby Amira K, Zeyada Reham A, Darwish Rania K, Elfeel Nesrine S, Abouelhoda Mohamed, El-Saiedi Sonia A, Gohar Nadida A, Seliem Zeinab |
The Identification by Exome Sequencing of Candidate Genes in BRCA-Negative Tunisian Patients at a High Risk of Hereditary Breast/Ovarian Cancer. Genes 2022 7 13 (8): . BenAyed-Guerfali Dorra, Kifagi Chamseddine, BenKridis-Rejeb Wala, Ammous-Boukhris Nihel, Ayedi Wajdi, Khanfir Afef, Daoud Jamel, Mokdad-Gargouri Ra |
Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants. Molecular diagnosis & therapy 2022 Jul . Janin Alexandre, Perouse de Montclos Thomas, Nguyen Karine, Consolino Emilie, Nadeau Gwenael, Rey Gaelle, Bouchot Océane, Blanchet Patricia, Sabbagh Quentin, Cazeneuve Cécile, El-Malti Rajae, Morel Elodie, Delinière Antoine, Chevalier Philippe, Millat Gill |
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 |
Genetic variants in Chinese patients with sporadic dilated cardiomyopathy: a cross-sectional study. Annals of translational medicine 2022 3 10 (3): 129. Shen Cheng, Xu Lei, Sun Xiaoning, Sun Aijun, Ge Jun |
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 |
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 |
Clinical Outcomes and Genetic Analyses of Restrictive Cardiomyopathy in Children. Circulation. Genomic and precision medicine 2023 6 e004054. Hidekazu Ishida, Jun Narita, Ryo Ishii, Hidehiro Suginobe, Hirofumi Tsuru, Renjie Wang, Chika Yoshihara, Atsuko Ueyama, Kazutoshi Ueda, Masaki Hirose, Kazuhisa Hashimoto, Hiroki Nagano, Shigetoyo Kogaki, Yuki Kuramoto, Yohei Miyashita, Yoshihiro Asano, Keiichi Ozo |
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 |
- Page last reviewed:Feb 1, 2024
- Page last updated:Mar 25, 2024
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