Yield of genetic testing in 97 consecutive cardiomyopathies patients through next-generation sequencing and a custom gene panel endorsing the HRS/EHRA expert consensus statement guidelines

被引:0
|
作者
Kotta, M. C. [1 ]
Crotti, L. [1 ]
Salerno, S. [1 ]
Castelletti, S. [1 ]
Torchio, M. [1 ]
Dagradi, F. [1 ]
Ghidoni, A. [1 ]
Pedrazzini, M. [1 ]
Revera, M. [1 ]
Villani, A. [1 ]
Malfatto, G. [1 ]
Branzi, G. [1 ]
Cecchi, F. [1 ]
Schwartz, P. J. [1 ]
Parati, G. [1 ]
机构
[1] Italian Inst Auxol IRCCS, Milan, Italy
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
P1786
引用
收藏
页码:366 / 366
页数:1
相关论文
共 19 条
  • [1] HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies
    Ackerman, Michael J.
    Priori, Silvia G.
    Willems, Stephan
    Berul, Charles
    Brugada, Ramon
    Calkins, Hugh
    Camm, A. John
    Ellinor, Patrick T.
    Gollob, Michael
    Hamilton, Robert
    Hershberger, Ray E.
    Judge, Daniel P.
    Le Marec, Herve
    McKenna, William J.
    Schulze-Bahr, Eric
    Semsarian, Chris
    Towbin, Jeffrey A.
    Watkins, Hugh
    Wilde, Arthur
    Wolpert, Christian
    Zipes, Douglas P.
    HEART RHYTHM, 2011, 8 (08) : 1308 - 1339
  • [2] HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies
    Ackerman, Michael J.
    Priori, Silvia G.
    Willems, Stephan
    Berul, Charles
    Brugada, Ramon
    Calkins, Hugh
    Camm, A. John
    Ellinor, Patrick T.
    Gollob, Michael
    Hamilton, Robert
    Hershberger, Ray E.
    Judge, Daniel P.
    Le Marec, Herve
    McKenna, William J.
    Schulze-Bahr, Eric
    Semsarian, Chris
    Towbin, Jeffrey A.
    Watkins, Hugh
    Wilde, Arthur
    Wolpert, Christian
    Zipes, Douglas P.
    EUROPACE, 2011, 13 (08): : 1077 - 1109
  • [3] HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies (vol 13, pg 1077, 2011)
    Ackerman, Michael J.
    Priori, Silvia G.
    Willems, Stephan
    Berul, Charles
    Brugada, Ramon
    Calkins, Hugh
    Camm, A. John
    Ellinor, Patrick T.
    Gollob, Michael
    Hamilton, Robert
    Hershberger, Ray E.
    Judge, Daniel P.
    Le Marec, Herve
    McKenna, William J.
    Schulze-Bahr, Eric
    Semsarian, Chris
    Towbin, Jeffrey A.
    Watkins, Hugh
    Wilde, Arthur
    Wolpert, Christian
    Zipes, Douglas P.
    Probst, Vincent
    Schwartz, Peter J.
    Kaeaeb, Stefan
    Kirchhof, Paulus
    EUROPACE, 2012, 14 (02): : 277 - 277
  • [4] A Custom Targeted Next-Generation Sequencing Gene Panel for the Diagnosis of Genetic Nephropathies
    Larsen, Christopher P.
    Durfee, Tim
    Wilson, Jon D.
    Beggs, Marjorie L.
    AMERICAN JOURNAL OF KIDNEY DISEASES, 2016, 67 (06) : 992 - 993
  • [5] Comprehensive genetic testing approach for major inherited kidney diseases, using next-generation sequencing with a custom panel
    Mori, Takayasu
    Hosomichi, Kazuyoshi
    Chiga, Motoko
    Mandai, Shintaro
    Nakaoka, Hirofumi
    Sohara, Eisei
    Okado, Tomokazu
    Rai, Tatemitsu
    Sasaki, Sei
    Inoue, Ituro
    Uchida, Shinichi
    CLINICAL AND EXPERIMENTAL NEPHROLOGY, 2017, 21 (01) : 63 - 75
  • [6] Comprehensive genetic testing approach for major inherited kidney diseases, using next-generation sequencing with a custom panel
    Takayasu Mori
    Kazuyoshi Hosomichi
    Motoko Chiga
    Shintaro Mandai
    Hirofumi Nakaoka
    Eisei Sohara
    Tomokazu Okado
    Tatemitsu Rai
    Sei Sasaki
    Ituro Inoue
    Shinichi Uchida
    Clinical and Experimental Nephrology, 2017, 21 : 63 - 75
  • [7] Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel
    Arslan, Elif Acar
    Oncel, Ibrahim
    Ceylan, Ahmet Cevdet
    Topcu, Meral
    Topaloglu, Haluk
    BRAIN & DEVELOPMENT, 2020, 42 (01): : 6 - 18
  • [8] Next-generation sequencing through multi-gene panel testing for diagnosis of hereditary ichthyosis in Chinese
    Cheng, Ruhong
    Liang, Jianying
    Li, Yue
    Zhang, Jia
    Ni, Cheng
    Yu, Hong
    Kong, Xiangsheng
    Li, Ming
    Yao, Zhirong
    CLINICAL GENETICS, 2020, 97 (05) : 770 - 778
  • [9] Expanded Genetic Testing for Primary Immunodeficiencies: Findings From a 207-Gene Next-Generation Sequencing Panel
    Holle, Jennifer
    Hartshorne, Christy
    Martin, Shiloh
    Ouyang, Karen
    JOURNAL OF CLINICAL IMMUNOLOGY, 2018, 38 (03) : 361 - 362
  • [10] IDENTIFYING THE GENETIC BASIS OF VASCULAR COGNITIVE IMPAIRMENT USING A CUSTOM DESIGNED NEXT-GENERATION SEQUENCING-BASED GENE PANEL
    Dilliott, Allison A.
    Farhan, Sali M.
    McIntyre, Adam A.
    Robinson, John F.
    Kwan, Donna
    Swartz, Rick
    Hassan, Ayman
    Dowlatshahi, Dar
    Sahlas, Demetrios
    Saposnik, Gustavo
    Mandzia, Jennifer
    Casaubon, Leanne
    Strong, Michael J.
    Masellis, Mario
    Bulman, Dennis E.
    Rogaeva, Ekaterina
    Hegele, Robert A.
    ATHEROSCLEROSIS SUPPLEMENTS, 2018, 32 : 80 - 81