Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 53 Records) |
| Query Trace: Disease and TNNI3[original query] |
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| Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy. BioMed research international 2015 2015 561819. 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 |
| 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 |
| Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy. American journal of medical genetics. Part A 2016 Sep . Ploski Rafal, Rydzanicz Malgorzata, Ksiazczyk Tomasz M, Franaszczyk Maria, Pollak Agnieszka, Kosinska Joanna, Michalak Ewa, Stawinski Piotr, Ziolkowska Lidia, Bilinska Zofia T, Werner Boze |
| 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 |
| Restrictive Cardiomyopathy Resulting from a Troponin I Type 3 Mutation in a Chinese Family. Chinese medical sciences journal = Chung-kuo i hsueh k'o hsueh tsa chih 2016 12 31 (1): 1-7. Ruan Yan-Ping, Lu Chao-Xia, Zhao Xiao-Yi, Liang Rui-Juan, Lian Hui, Routledge Michael, Wu Wei, Zhang Xue, Fan Zhong-J |
| 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 |
| Clinical outcomes associated with sarcomere mutations in hypertrophic cardiomyopathy: a meta-analysis on 7675 individuals. Clinical research in cardiology : official journal of the German Cardiac Society 2017 8 107 (1): 30-41. Sedaghat-Hamedani Farbod, Kayvanpour Elham, Tugrul Oguz Firat, Lai Alan, Amr Ali, Haas Jan, Proctor Tanja, Ehlermann Philipp, Jensen Katrin, Katus Hugo A, Meder Benjam |
| Finding the candidate sequence variants for diagnosis of hypertrophic cardiomyopathy in East Slovak patients. Journal of clinical laboratory analysis 2017 8 32 (3): . Zigova Michaela, Bernasovska Jarmila, Boronova Iveta, Mydlarova Blascakova Marta, Kmec J |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 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 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 |
| Association of Multiple Nonhypertrophic Cardiomyopathy-Related Genetic Variants and Outcomes in Patients With Hypertrophic Cardiomyopathy. JACC. Heart failure 2024 9 . Takashi Hiruma, Shunsuke Inoue, Zhehao Dai, Seitaro Nomura, Toru Kubo, Kenta Sugiura, Atsushi Suzuki, Takeshi Kashimura, Shouji Matsushima, Takanobu Yamada, Takashige Tobita, Manami Katoh, Toshiyuki Ko, Masamichi Ito, Junichi Ishida, Eisuke Amiya, Masaru Hatano, Norifumi Takeda, Eiki Takimoto, Hiroshi Akazawa, Hiroyuki Morita, Junichi Yamaguchi, Takayuki Inomata, Hiroyuki Tsutsui, Hiroaki Kitaoka, Hiroyuki Aburatani, Norihiko Takeda, Issei Komu |
| Natural history and clinical outcomes of patients with hypertrophic cardiomyopathy from thin filament mutations. ESC heart failure 2024 5 . Tatiana Saul, Quan M Bui, Alessia Argiro, Lucas Keyt, Iacopo Olivotto, Eric Adl |
- Page last reviewed:Feb 1, 2024
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