VALUE OF EXOME SEQUENCING "FIRST" FOR AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

被引:0
|
作者
Dancer, Marine [1 ]
Bensouna, Ilias [2 ]
Robert, Thomas [3 ]
Mesnard, Laurent [2 ]
机构
[1] Eurofins Biomnis, Genet, Lyon, France
[2] Tenon Hosp, Paris, France
[3] Hosp Acad Marseille, Marseille, France
关键词
D O I
暂无
中图分类号
R3 [基础医学]; R4 [临床医学];
学科分类号
1001 ; 1002 ; 100602 ;
摘要
5958
引用
收藏
页码:I201 / I201
页数:1
相关论文
共 50 条
  • [1] Value of exome sequencing "first" for autosomal dominant polycystic kidney disease
    Bensouna, Ilias
    Dancer, Marine
    Lebre, Anne-Sophie
    Raymond, Laure
    Robert, Thomas
    Mesnard, Laurent
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 389 - 389
  • [2] Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease
    Chang, Alexander R.
    Moore, Bryn S.
    Luo, Jonathan Z.
    Sartori, Gino
    Fang, Brian
    Jacobs, Steven
    Abdalla, Yoosif
    Taher, Mohammed
    Carey, David J.
    Triffo, William J.
    Singh, Gurmukteshwar
    Mirshahi, Tooraj
    JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2022, 328 (24): : 2412 - 2421
  • [3] Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing
    Kim, Hyunsuk
    Park, Hayne Cho
    Ryu, Hyunjin
    Kim, Hyunho
    Lee, Hyun-Seob
    Heo, Jongho
    Lee, Chung
    Kim, Nayoung K. D.
    Park, Woong-Yang
    Hwang, Young-Hwan
    Lee, Kyu Beck
    Oh, Kook-Hwan
    Oh, Yun Kyu
    Ahn, Curie
    SCIENTIFIC REPORTS, 2019, 9 (1)
  • [4] Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing
    Hyunsuk Kim
    Hayne Cho Park
    Hyunjin Ryu
    Hyunho Kim
    Hyun-Seob Lee
    Jongho Heo
    Chung Lee
    Nayoung K. D. Kim
    Woong-Yang Park
    Young-Hwan Hwang
    Kyu Beck Lee
    Kook-Hwan Oh
    Yun kyu Oh
    Curie Ahn
    Scientific Reports, 9
  • [5] Clinical exome sequencing (CES) as a tool for genetic diagnosis of Autosomal Dominant Polycystic Kidney Disease (ADPKD)
    Bracciama, Valeria
    Faini, Angelo Corso
    Kalantari, Silvia
    del Prever, Giulia Margherita Brach
    Callegari, Martina
    Peruzzi, Licia
    Fenoglio, Roberta
    Roccatello, Dario
    Deaglio, Silvia
    Amoroso, Antonio
    Vaisitti, Tiziana
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 378 - 379
  • [6] Author Correction: Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing
    Hyunsuk Kim
    Hayne Cho Park
    Hyunjin Ryu
    Hyunho Kim
    Hyun-Seob Lee
    Jongho Heo
    Chung Lee
    Nayoung K. D. Kim
    Woong-Yang Park
    Young-Hwan Hwang
    Kyu Beck Lee
    Kook-Hwan Oh
    Yun kyu Oh
    Curie Ahn
    Scientific Reports, 10
  • [7] Autosomal dominant polycystic kidney disease
    Simms, Roslyn J.
    BMJ-BRITISH MEDICAL JOURNAL, 2016, 352
  • [8] Autosomal dominant polycystic kidney disease
    Chow, Chern Li
    Ong, Albert C. M.
    CLINICAL MEDICINE, 2009, 9 (03) : 278 - 283
  • [9] Autosomal dominant polycystic kidney disease
    Lanktree, Matthew B.
    Chapman, Arlene B.
    CANADIAN MEDICAL ASSOCIATION JOURNAL, 2017, 189 (45) : E1396 - E1396
  • [10] AUTOSOMAL DOMINANT POLYCYSTIC DISEASE OF THE KIDNEY
    FICK, G
    WEBER, M
    DEUTSCHE MEDIZINISCHE WOCHENSCHRIFT, 1992, 117 (30) : 1160 - 1164