Genotype-phenotype correlations in patients with titin variants and cardiomyopathy from a Swiss cohort

被引：0
|
作者：
Schaetti, N. [1 ]
Bonetti, N. [1 ]
Medeiros Domingo, A. [2 ]
Naegele, M. [1 ]
Grebmer, C. [3 ]
Vischer, A. [4 ]
Odening, K. [5 ]
Rieder, M. [5 ]
Manka, R. [1 ]
Tanner, F. [1 ]
Ruschitzka, F. [1 ]
Fokstuen, S. [1 ]
Duru, F. [1 ]
Saguner, A. [1 ]
机构：
[1] Univ Hosp Zurich, Zurich, Switzerland
[2] Swiss DNAlysis, Dubendorf, Switzerland
[3] Lucerne Cantonal Hosp, Luzern, Switzerland
[4] Univ Hosp Basel, Dept Cardiol, Basel, Switzerland
[5] Bern Univ Hosp, Inselspital, Bern, Switzerland
来源：
EUROPEAN HEART JOURNAL | 2024年 / 45卷
关键词：
D O I：
10.1093/eurheartj/ehae666.2063
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页数：1
相关论文
共 50 条
  • [1] Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations
    Franaszczyk, Maria
    Chmielewski, Przemyslaw
    Truszkowska, Grazyna
    Stawinski, Piotr
    Michalak, Ewa
    Rydzanicz, Malgorzata
    Sobieszczanska-Malek, Malgorzata
    Pollak, Agnieszka
    Szczygiel, Justyna
    Kosinska, Joanna
    Parulski, Adam
    Stoklosa, Tomasz
    Tarnowska, Agnieszka
    Machnicki, Marcin M.
    Foss-Nieradko, Bogna
    Szperil, Malgorzata
    Sioma, Agnieszka
    Kusmierczyk, Mariusz
    Grzybowski, Jacek
    Zielinski, Tomasz
    Ploski, Rafal
    Bilinska, Zofia T.
    PLOS ONE, 2017, 12 (01):
  • [2] Defining titin cardiomyopathy: genotype- phenotype correlations in a large prospective cohort of dilated cardiomyopathy patients
    Tayal, U.
    Newsome, S.
    Buchan, R.
    Whiffin, N.
    Walsh, R.
    Ware, J.
    Prasad, S. K.
    Cook, S. A.
    EUROPEAN HEART JOURNAL, 2016, 37 : 365 - 365
  • [3] GENOTYPE-PHENOTYPE CORRELATIONS IN PATIENTS WITH GERMLINE WT1-VARIANTS IN A NATIONAL COHORT
    Van Peer, Sophie
    Hol, Janna
    Egging, Sanne
    Lombardi, Maria
    Wagner, Anja
    Van den Heuvel-Eibrink, Marry
    Kuiper, Roland
    Jongmans, Marjolijn
    PEDIATRIC BLOOD & CANCER, 2022, 69
  • [4] Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy
    Akinrinade, Oyediran
    Ollila, Laura
    Vattulainen, Sanna
    Tallila, Jonna
    Gentile, Massimiliano
    Salmenpera, Pertteli
    Koillinen, Hannele
    Kaartinen, Maija
    Nieminen, Markku S.
    Myllykangas, Samuel
    Alastalo, Tero-Pekka
    Koskenvuo, Juha W.
    Helio, Tiina
    EUROPEAN HEART JOURNAL, 2015, 36 (34) : 2327 - 2337
  • [5] GENETICS AND GENOTYPE-PHENOTYPE CORRELATIONS IN FINNISH PATIENTS WITH DILATED CARDIOMYOPATHY
    Akinrinade, O.
    Ollila, L.
    Vattulainen, S.
    Tallila, J.
    Gentile, M.
    Koillinen, H.
    Myllykangas, S.
    Alastalo, T. P.
    Koskenvuo, J. W.
    Helio, T.
    CARDIOLOGY, 2015, 131 : 234 - 234
  • [6] Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA
    Yi, Mengni
    Wang, Yu
    Gao, Xiaolan
    Han, Lianshu
    Qiu, Wenjuan
    Gu, Xuefan
    Maegawa, Gustavo H. B.
    Zhang, Huiwen
    JOURNAL OF INHERITED METABOLIC DISEASE, 2022, 45 (03) : 593 - 604
  • [7] Genotype-phenotype correlations in Polish patients with hypertrophic cardiomyopathy: Preliminary report
    Osadnik, Tadeusz
    Frycz-Kurek, Anna
    Lejawa, Mateusz
    Fronczek, Martyna
    Malyszek-Tumidajewicz, Justyna
    Szczurek-Wasilewicz, Wioletta
    Maciol-Skurk, Karolina
    Gqsior, Mariusz
    Szygula-Jurkiewicz, Bozena
    KARDIOLOGIA POLSKA, 2022, 80 (04) : 482 - 484
  • [8] Genetic Determinants and Genotype-Phenotype Correlations in Vietnamese Patients With Dilated Cardiomyopathy
    Thuy Vy Nguyen
    Minh Thu Tran Vu
    Thi Nam Phuong Do
    Thi Huynh Nga Tran
    Thi Hao Do
    Thi My Hanh Nguyen
    Bao Nam Tran Huynh
    Lan Anh Le
    Ngoc Thieu Nguyen Pham
    Thi Dieu Ai Nguyen
    Thi My Nuong Nguyen
    Ngoc Hong Phuong Le
    Vinh Pham Nguyen
    Thuy Duong Ho Huynh
    CIRCULATION JOURNAL, 2021, 85 (09) : 1469 - +
  • [9] The Complexity of Genotype-Phenotype Correlations in Hereditary Spherocytosis: A Cohort of 95 Patients Genotype-Phenotype Correlation in Hereditary Spherocytosis
    van Vuren, Annelies
    van der Zwaag, Bert
    Huisjes, Rick
    Lak, Nathalie
    Bierings, Marc
    Gerritsen, Egbert
    van Beers, Eduard
    Bartels, Marije
    van Wijk, Richard
    HEMASPHERE, 2019, 3 (04):
  • [10] FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations
    Ader, Flavie
    De Groote, Pascal
    Reant, Patricia
    Rooryck-Thambo, Caroline
    Dupin-Deguine, Delphine
    Rambaud, Caroline
    Khraiche, Diala
    Perret, Claire
    Pruny, Jean Francois
    Mathieu-Dramard, Michele
    Gerard, Marion
    Troadec, Yann
    Gouya, Laurent
    Jeunennaitre, Xavier
    Van Maldergem, Lionel
    Hagege, Albert
    Villard, Eric
    Charron, Philippe
    Richard, Pascale
    CLINICAL GENETICS, 2019, 96 (04) : 317 - 329
12345