HuGE Literature Finder
Records 1-30
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Deleterious Rare Desmosomal Variants Contribute to Hypertrophic Cardiomyopathy and are Associated With Distinctive Clinical Features.
The Canadian journal of cardiology 2021 Sep . Wu Guixin, Liu Jie, Ruan Jieyun, Yu Shiqin, Wang Limei, Zhao Shihua, Wang Shuiyun, Kang Lianming, Wang Jizheng, Song L |
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Genomic Autopsy of Sudden Deaths in Young Individuals.
JAMA cardiology 2021 Aug . Webster Gregory, Puckelwartz Megan J, Pesce Lorenzo L, Dellefave-Castillo Lisa M, Vanoye Carlos G, Potet Franck, Page Patrick, Kearns Samuel D, Pottinger Tess, White Steven, Arunkumar Ponni, Olson Rachael, Kofman Amber, Ibrahim Nora, Ing Alexander, Brew Casey, Yap Kai Lee, Kadri Sabah, George Alfred L, McNally Elizabeth |
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Next-Generation Sequencing Reveals Novel Genetic Variants for Dilated Cardiomyopathy in Pediatric Chinese Patients.
Pediatric cardiology 2021 Aug . Wang Yan, Han Bo, Fan Youfei, Yi Yingchun, Lv Jianli, Wang Jing, Yang Xiaofei, Jiang Diandong, Zhao Lijian, Zhang Jianjun, Yuan H |
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Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients.
International journal of cardiology 2021 Jul . Imai-Okazaki Atsuko, Matsunaga Ayako, Yatsuka Yukiko, Nitta Kazuhiro R, Kishita Yoshihito, Sugiura Ayumu, Sugiyama Yohei, Fushimi Takuya, Shimura Masaru, Ichimoto Keiko, Tajika Makiko, Tominaga Minako, Ebihara Tomohiro, Matsuhashi Tetsuro, Tsuruoka Tomoko, Kohda Masakazu, Hirata Tomoko, Harashima Hiroko, Nojiri Shuko, Takeda Atsuhito, Nakaya Akihiro, Kogaki Shigetoyo, Sakata Yasushi, Ohtake Akira, Murayama Kei, Okazaki Yasus |
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Specific FSTL1 polymorphism may determine the risk of cardiomyopathy in patients with acromegaly.
Acta cardiologica 2021 Jul 1-10. Sendur Suleyman Nahit, Hazirolan Tuncay, Aydin Busra, Lay Incilay, Alikasifoglu Mehmet, Erbas Tomr |
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Variation p.R1045H in MYH7 correlated with hypertrophic cardiomyopathy in a Chinese pedigree.
BMC medical genomics 2021 Jul 14 (1): 196. Zhang Yan, Shang Yiyi, Liu Luo, Ding Xiaoxue, Wu Haiyan, Li Lijiang, Pang Mingj |
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Whole-exome sequencing reveals genetic risks of early-onset sporadic dilated cardiomyopathy in the Chinese Han population.
Science China. Life sciences 2021 Jul . Xiao Lei, Wu Dongyang, Sun Yang, Hu Dong, Dai Jiaqi, Chen Yanghui, Wang Daow |
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Association of the transthyretin variant V122I with polyneuropathy among individuals of African ancestry.
Scientific reports 2021 Jun 11 (1): 11645. Parker Margaret M, Damrauer Scott M, Tcheandjieu Catherine, Erbe David, Aldinc Emre, Hawkins Philip N, Gillmore Julian D, Hull Leland E, Lynch Julie A, Joseph Jacob, Ticau Simina, Flynn-Carroll Alexander O, Deaton Aimee M, Ward Lucas D, Assimes Themistocles L, Tsao Philip S, Chang Kyong-Mi, Rader Daniel J, Fitzgerald Kevin, Vaishnaw Akshay K, Hinkle Gregory, Nioi Pa |
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Pathogenic variants in plakophilin-2 gene (PKP2) are associated with better survival in arrhythmogenic right ventricular cardiomyopathy.
Journal of applied genetics 2021 Jun . Biernacka Elżbieta K, Borowiec Karolina, Franaszczyk Maria, Szperl Małgorzata, Rampazzo Alessandra, Woźniak Olgierd, Roszczynko Marta, Śmigielski Witold, Lutyńska Anna, Hoffman Pio |
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Rationale and design of the PHOspholamban RElated CArdiomyopathy intervention STudy (i-PHORECAST).
Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation 2021 Jun . Te Rijdt W P, Hoorntje E T, de Brouwer R, Oomen A, Amin A, van der Heijden J F, Karper J C, Westenbrink B D, Silljé H H W, Te Riele A S J M, Wiesfeld A C P, van Gelder I C, Willems T P, van der Zwaag P A, van Tintelen J P, Hillege J H, Tan H L, van Veldhuisen D J, Asselbergs F W, de Boer R A, Wilde A A M, van den Berg M |
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The genetic architecture of Plakophilin 2 cardiomyopathy.
Genetics in medicine : official journal of the American College of Medical Genetics 2021 Jun . Dries Annika M, Kirillova Anna, Reuter Chloe M, Garcia John, Zouk Hana, Hawley Megan, Murray Brittney, Tichnell Crystal, Pilichou Kalliopi, Protonotarios Alexandros, Medeiros-Domingo Argelia, Kelly Melissa A, Baras Aris, Ingles Jodie, Semsarian Christopher, Bauce Barbara, Celeghin Rudy, Basso Cristina, Jongbloed Jan D H, Nussbaum Robert L, Funke Birgit, Cerrone Marina, Mestroni Luisa, Taylor Matthew R G, Sinagra Gianfranco, Merlo Marco, Saguner Ardan M, Elliott Perry M, Syrris Petros, van Tintelen J Peter, , James Cynthia A, Haggerty Christopher M, Parikh Victoria |
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CBR3 V244M is associated with LVEF reduction in breast cancer patients treated with doxorubicin.
Cardio-oncology (London, England) 2021 May 7 (1): 17. Lang Jennifer K, Karthikeyan Badri, Quiñones-Lombraña Adolfo, Blair Rachael Hageman, Early Amy P, Levine Ellis G, Sharma Umesh C, Blanco Javier G, O'Connor Trac |
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High Prevalence of Late-Onset Fabry Cardiomyopathy in a Cohort of 499 Non-Selective Patients with Left Ventricular Hypertrophy: The Asian Fabry Cardiomyopathy High-Risk Screening Study (ASIAN-FAME).
Journal of clinical medicine 2021 May 10 (10): . Fan Yiting, Chan Tsz-Ngai, Chow Josie T Y, Kam Kevin K H, Chi Wai-Kin, Chan Joseph Y S, Fung Erik, Tong Mabel M P, Wong Jeffery K T, Choi Paul C L, Chan David K H, Sheng Bun, Lee Alex Pui-W |
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Neurological involvement in Ile68Leu (p.Ile88Leu) ATTR amyloidosis: not only a cardiogenic mutation.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 2021 May 1-9. Pastorelli Francesca, Fabbri Gioele, Rapezzi Claudio, Serenelli Matteo, Plasmati Rosaria, Vacchiano Veria, Ferlini Alessandra, Manfrini Marco, Salvi Fabriz |
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Gender- and age-related differences in distinct phenotypes of hypertrophic cardiomyopathy-associated mutation MYBPC3-E334K.
Heart and vessels 2021 Apr . Yang Qian-Li, Zuo Lei, Ma Zhi-Ling, Lei Chang-Hui, Zhu Xiao-Li, Wang Xuan-Ying, Wang Bo, Zhao Xue-Li, Zhang Juan, Wang Yue, Zhang Yan-Min, Liu Li-W |
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Re-evaluation of single nucleotide variants and identification of structural variants in a cohort of 45 sudden unexplained death cases.
International journal of legal medicine 2021 Apr . Neubauer Jacqueline, Wang Shouyu, Russo Giancarlo, Haas Cordu |
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Clinical comparison of V122I genotypic variant of transthyretin amyloid cardiomyopathy with wild-type and other hereditary variants: a systematic review.
Heart failure reviews 2021 Mar . Goyal Amandeep, Lahan Shubham, Dalia Tarun, Ranka Sagar, Bhattad Venugopal Brijmohan, Patel Ronak R, Shah Zuba |
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Effect of sarcomere and mitochondria-related mutations on myocardial fibrosis in patients with hypertrophic cardiomyopathy.
Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance 2021 Mar 23 (1): 18. Chung Hyemoon, Kim Yoonjung, Park Chul-Hwan, Kim Jong-Youn, Min Pil-Ki, Yoon Young Won, Kim Tae Hoon, Lee Byoung Kwon, Hong Bum-Kee, Rim Se-Joong, Kwon Hyuck Moon, Lee Kyung-A, Choi Eui-You |
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Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults.
Human genetics 2021 Mar . Ahmadmehrabi Shadi, Li Binglan, Park Joseph, Devkota Batsal, Vujkovic Marijana, Ko Yi-An, Van Wagoner David, Tang W H Wilson, Krantz Ian, Ritchie Marylyn, , Brant Jason, Ruckenstein Michael J, Epstein Douglas J, Rader Daniel |
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A genome-wide association study identifies novel susceptibility loci in chronic Chagas cardiomyopathy.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2021 Feb . Casares-Marfil Desiré, Strauss Mariana, Bosch-Nicolau Pau, Lo Presti María Silvina, Molina Israel, Chevillard Christophe, Cunha-Neto Edecio, Sabino Ester, Ribeiro Antonio L, González Clara Isabel, Martín Javier, Acosta-Herrera Marialbe |
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BIO FOr CARE: biomarkers of hypertrophic cardiomyopathy development and progression in carriers of Dutch founder truncating MYBPC3 variants-design and status.
Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation 2021 Feb . Jansen M, Christiaans I, van der Crabben S N, Michels M, Huurman R, Hoedemaekers Y M, Dooijes D, Jongbloed J D H, Boven L G, Lekanne Deprez R H, Wilde A A M, Jans J J M, van der Velden J, de Boer R A, van Tintelen J P, Asselbergs F W, Baas A |
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A Validation Study of the Mayo Clinic Phenotype-Based Genetic Test Prediction Score for Japanese Patients With Hypertrophic Cardiomyopathy.
Circulation journal : official journal of the Japanese Circulation Society 2021 Jan . Moriki Toshihiro, Kubo Toru, Sugiura Kenta, Ochi Yuri, Baba Yuichi, Hirota Takayoshi, Yamasaki Naohito, Kimura Akinori, Doi Yoshinori L, Kitaoka Hiroa |
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Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity.
Nature genetics 2021 Jan . Harper Andrew R, Goel Anuj, Grace Christopher, Thomson Kate L, Petersen Steffen E, Xu Xiao, Waring Adam, Ormondroyd Elizabeth, Kramer Christopher M, Ho Carolyn Y, Neubauer Stefan, , Tadros Rafik, Ware James S, Bezzina Connie R, Farrall Martin, Watkins Hu |
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Contribution of sarcomere gene mutations to left atrial function in patients with hypertrophic cardiomyopathy.
Cardiovascular ultrasound 2021 Jan 19 (1): 4. Chung Hyemoon, Kim Yoonjung, Park Chul Hwan, Kim In-Soo, Kim Jong-Youn, Min Pil-Ki, Yoon Young Won, Kim Tae Hoon, Lee Byoung Kwon, Hong Bum-Kee, Rim Se-Joong, Kwon Hyuck Moon, Lee Kyung-A, Choi Eui-You |
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High ECG Risk-Scores Predict Late Gadolinium Enhancement on Magnetic Resonance Imaging in HCM in the Young.
Pediatric cardiology 2021 Jan . Österberg Anna Wålinder, Östman-Smith Ingegerd, Jablonowski Robert, Carlsson Marcus, Green Henrik, Gunnarsson Cecilia, Liuba Petru, Fernlund E |
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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 |
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Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.
PloS one 2021 16 (2): e0245681. Koskenvuo Juha W, Saarinen Inka, Ahonen Saija, Tommiska Johanna, Weckström Sini, Seppälä Eija H, Tuupanen Sari, Kangas-Kontio Tiia, Schleit Jennifer, Heliö Krista, Hathaway Julie, Gummesson Anders, Dahlberg Pia, Ojala Tiina H, Vepsäläinen Ville, Kytölä Ville, Muona Mikko, Sistonen Johanna, Salmenperä Pertteli, Gentile Massimiliano, Paananen Jussi, Myllykangas Samuel, Alastalo Tero-Pekka, Heliö Tii |
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Loss-of-Function Variants in the SYNPO2L Gene Are Associated With Atrial Fibrillation.
Frontiers in cardiovascular medicine 2021 8 650667. Clausen Alexander Guldmann, Vad Oliver Bundgaard, Andersen Julie Husted, Olesen Morten Salli |
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The Interplay Between Titin, Polygenic Risk, and Modifiable Cardiovascular Risk Factors in Atrial Fibrillation.
The Canadian journal of cardiology 2020 Dec . Huang Kate, Trinder Mark, Roston Thomas M, Laksman Zachary W, Brunham Liam |
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Angiotensinogen M235T polymorphism and susceptibility to hypertrophic cardiomyopathy in Asian population: A meta analysis.
Journal of the renin-angiotensin-aldosterone system : JRAAS 0 21 (4): 1470320320978100. Zhen Zhen, Gao Lu, Wang Qin, Chen Xi, Na Jia, Xu Xiwei, Yuan Y |
- Page last reviewed:Oct 1, 2020
- Page last updated:Sep 23, 2021
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