Rapid whole exome sequencing to identify the underlying genetic cause in fetuses with sonographic anomalies

被引：0
|
作者：
Feenstra, I. [1 ]
Deden, A. C. [2 ]
Nelen, M. I. [1 ]
Neveling, K. [1 ]
Castelein, S. [3 ]
Gilissen, C. F. [3 ]
Pfundt, R. P. [4 ]
Elting, M. W. [5 ]
Rinne, T. K. [4 ]
Diderich, K. E. [6 ]
Sallevelt, S. C. [7 ]
Corsten-Janssen, N. [8 ]
Lichtenbelt, K. D. [9 ]
Gardeitchik, T. [4 ]
Vissers, L. [4 ]
Yntema, H. G. [4 ]
van Zelst-Stams, W. A. [1 ]
机构：
[1] Radboud Univ Nijmegen, Med Ctr, Radboud Inst Hlth Sci, Dept Human Genet, Nijmegen, Netherlands
[2] Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands
[3] Radboud Univ Nijmegen, Radboud Inst Mol Life Sci, Dept Human Genet, Med Ctr, Nijmegen, Netherlands
[4] Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Human Genet, Nijmegen, Netherlands
[5] Amsterdam Med Univ, Dept Genet, Amsterdam, Netherlands
[6] Erasmus MC, Dept Genet, Rotterdam, Netherlands
[7] Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands
[8] Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands
[9] Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2019年 / 27卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P01.68D
引用
收藏
页码：1203 / 1203
页数：1
相关论文
共 50 条
  • [21] Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract
    Lei, Ting-ying
    Fu, Fang
    Li, Ru
    Wang, Dan
    Wang, Rong-yue
    Jing, Xiang-yi
    Deng, Qiong
    Li, Zhou-zhou
    Liu, Ze-qun
    Yang, Xin
    Li, Dong-zhi
    Liao, Can
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2017, 32 (10) : 1665 - 1675
  • [22] Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development
    Yates, Carin L.
    Monaghan, Kristin G.
    Copenheaver, Deborah
    Retterer, Kyle
    Scuffins, Julie
    Kucera, Cathlin R.
    Friedman, Bethany
    Richard, Gabriele
    Juusola, Jane
    GENETICS IN MEDICINE, 2017, 19 (10) : 1171 - 1178
  • [23] Whole exome sequencing identifies the genetic cause of a new ciliopathy syndrome
    Waters, A.
    Lescai, F.
    Christou, S.
    Chanudet, E.
    Charu, D.
    Kleta, R.
    Hubank, M.
    Stupka, E.
    Winey, M.
    Beales, P.
    PEDIATRIC NEPHROLOGY, 2011, 26 (09) : 1574 - 1575
  • [24] Genetic analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing
    Xiang, Jingjing
    Ding, Yang
    Tang, Hui
    Zhang, Wei
    Mao, Jun
    He, Quanze
    Zhang, Qin
    Wang, Ting
    ORPHANET JOURNAL OF RARE DISEASES, 2024, 19 (01)
  • [25] Prenatal genetic diagnosis of fetuses with dextrocardia using whole exome sequencing in a tertiary center
    Xue, Huili
    Yu, Aili
    Chen, Lingji
    Guo, Qun
    Zhang, Lin
    Lin, Na
    Chen, Xuemei
    Xu, Liangpu
    Huang, Hailong
    SCIENTIFIC REPORTS, 2024, 14 (01):
  • [26] UTILIZING WHOLE EXOME SEQUENCING TO IDENTIFY GENETIC CAUSES OF INHERITED PLATELET DEFECTS
    Nance, Danielle
    Rondina, Matthew
    DiPaula, Jorge
    AMERICAN JOURNAL OF HEMATOLOGY, 2014, 89 (06) : E90 - E91
  • [27] Whole exome sequencing to identify genetic markers for trastuzumab-induced cardiotoxicity
    Udagawa, Chihiro
    Nakamura, Hiromi
    Ohnishi, Hiroshi
    Tamura, Kenji
    Shimoi, Tatsunori
    Yoshida, Masayuki
    Yoshida, Teruhiko
    Totoki, Yasushi
    Shibata, Tatsuhiro
    Zembutsu, Hitoshi
    CANCER SCIENCE, 2018, 109 (02) : 446 - 452
  • [28] Whole exome sequencing to identify genetic markers for Herceptin-induced cardiotoxicity
    Udagawa, Chihiro
    Nakamura, Hiromi
    Ohnishi, Hiroshi
    Tamura, Kenji
    Shimoi, Tatsunori
    Yoshida, Masayuki
    Yoshida, Teruhiko
    Totokil, Yasushi
    Shibata, Tatsuhiro
    Zembutsu, Hitoshi
    CANCER SCIENCE, 2018, 109 : 900 - 900
  • [29] Whole exome sequencing to identify genetic markers for trastuzumab-induced cardiotoxicity
    Udagawa, Chihiro
    Nakamura, Hiromi
    Tamura, Kenji
    Shimoi, Tatsunori
    Yoshida, Masayuki
    Yoshida, Teruhiko
    Okamura, Hiroshi
    Totoki, Yasushi
    Shibata, Tatsuhiro
    Zembutsu, Hitoshi
    CANCER SCIENCE, 2018, 109 : 597 - 597
  • [30] Whole exome sequencing to identify genetic markers for trastuzumab-induced cardiotoxicity
    Udagawa, Chihiro
    Nakamura, Hiromi
    Ohnishi, Hiroshi
    Tamura, Kenji
    Shimoi, Tatsunori
    Yoshida, Masayuki
    Yoshida, Teruhiko
    Okamura, Hiroshi
    Totoki, Yasushi
    Shibata, Tatsuhiro
    Zembutsu, Hitoshi
    CANCER RESEARCH, 2018, 78 (13)
12345