user

NOVEL MUTATIONS IN FAMILIAL DILATED CARDIOMYOPATHY IDENTIFIED BY WHOLE EXOME SEQUENCING

被引：0
|
作者：
Tadros, R.
Chami, N.
Beaudoin, M.
Lo, K.
Robb, L.
Lemarbre, F.
Talajic, M.
Lettre, G.
机构：
来源：
CANADIAN JOURNAL OF CARDIOLOGY | 2013年 / 29卷 / 10期
关键词：
D O I：
10.1016/j.cjca.2013.07.623
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
696
引用
收藏
页码：S364 / S364
页数：1
相关论文
共 50 条
  • [41] Prevalence of familial forms of dilated cardiomyopathy in Czech patients with recent-onset disease and initial outcomes of whole exome sequencing
    Kubanek, M.
    Krebsova, A.
    Piherova, L.
    Stranecky, V.
    Macek, M., Jr.
    Paderova, J.
    Palecek, T.
    Melenovsky, V.
    Kmoch, S.
    Kautzner, J.
    EUROPEAN HEART JOURNAL, 2016, 37 : 758 - 758
  • [42] Whole exome sequencing in familial hypobetalipoproteinemia
    Tada, H.
    Nomura, A.
    Kawashiri, M.
    Nohara, A.
    Inazu, A.
    Mabuchi, H.
    Kathiresan, S.
    Yamagishi, M.
    EUROPEAN HEART JOURNAL, 2015, 36 : 294 - 294
  • [43] Titin mutations in familial dilated cardiomyopathy
    Gerull, B
    Gramlich, M
    Atherton, J
    McNabb, M
    Seidman, JG
    Seidman, C
    Granzier, H
    Labeit, S
    Frenneaux, M
    Thierfelder, L
    CIRCULATION, 2001, 104 (17) : 135 - 135
  • [44] Coverage and diagnostic yield of Whole Exome Sequencing for the Evaluation of Cases with Dilated and Hypertrophic Cardiomyopathy
    Timothy Shin Heng Mak
    Yee-Ki Lee
    Clara S. Tang
    JoJo S. H. Hai
    Xinru Ran
    Pak-Chung Sham
    Hung-Fat Tse
    Scientific Reports, 8
  • [45] Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy
    D'Agostino, Ylenia
    Palumbo, Domenico
    Rusciano, Maria Rosaria
    Strianese, Oriana
    Amabile, Sonia
    Di Rosa, Domenico
    De Angelis, Elena
    Visco, Valeria
    Russo, Fabio
    Alexandrova, Elena
    Salvati, Annamaria
    Giurato, Giorgio
    Nassa, Giovanni
    Tarallo, Roberta
    Galasso, Gennaro
    Ciccarelli, Michele
    Weisz, Alessandro
    Rizzo, Francesca
    DIAGNOSTICS, 2022, 12 (10)
  • [46] Coverage and diagnostic yield of Whole Exome Sequencing for the Evaluation of Cases with Dilated and Hypertrophic Cardiomyopathy
    Mak, Timothy Shin Heng
    Lee, Yee-Ki
    Tang, Clara S.
    Hai, Jojo S. H.
    Ran, Xinru
    Sham, Pak-Chung
    Tse, Hung-Fat
    SCIENTIFIC REPORTS, 2018, 8
  • [47] Whole-exome sequencing reveals doubly novel heterozygous Myosin Binding Protein C and Titin mutations in a Chinese patient with severe dilated cardiomyopathy
    Fan, Liang-Liang
    Chen, Ya-Qin
    Huang, Hao
    Jin, Jie-Yuan
    Li, Jing-Jing
    Tan, Zhi-Ping
    CARDIOLOGY IN THE YOUNG, 2018, 28 (12) : 1410 - 1414
  • [48] Whole-exome sequencing of chondroid hamartoma of lung identified no driver mutations
    Choi, Su Hye
    Park, Hyeon-Chun
    Kim, Min Sung
    Chung, Yeun-Jun
    Lee, Sug Hyung
    PATHOLOGY RESEARCH AND PRACTICE, 2018, 214 (03) : 459 - 462
  • [49] Whole-exome sequencing in rare families identified novel genetic variants for familial type 1 diabetes
    Noso, S.
    Hosomichi, K.
    Babaya, N.
    Hiromine, Y.
    Ito, H.
    Taketomo, Y.
    Kawabata, Y.
    Ikegami, H.
    DIABETOLOGIA, 2017, 60 : S24 - S25
  • [50] Hunting for Novel Dilated Cardiomyopathy Genes using Haplotype Sharing and Exome Sequencing
    Jongbloed, Jan D.
    van der Zwaag, Paul A.
    Posafalvi, Anna
    Bergsma, Jelkje J.
    van Dijk, Freerk
    van Veldhuisen, Dirk J.
    van Spaendonck-Zwarts, Karin Y.
    Meerman, Gerard J. Te
    Hofstra, Robert M.
    Sinke, Richard J.
    van de Berg, Maarten P.
    van Tintelen, J. P.
    CIRCULATION, 2010, 122 (21)
12345