Prenatal exome sequencing identifies compound heterozygous GLB1-mutations in a fetus with ultrasound abnormalities

被引:0
|
作者
Beck-Woedl, S. [1 ]
Grundmann-Hauser, K. [1 ]
Buchert-Lo, R. [1 ]
Dufke, A. [1 ]
Sturm, M. [1 ]
Riess, O. [1 ]
Hoopmann, M. [1 ]
Haack, T. [1 ]
Stampfer, M. [1 ]
机构
[1] Dept Gynecol, Tubingen, Germany
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
P06.15C
引用
收藏
页码:173 / 173
页数:1
相关论文
共 50 条
  • [41] Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma
    Krauthammer, Michael
    Kong, Yong
    Ha, Byung Hak
    Evans, Perry
    Bacchiocchi, Antonella
    McCusker, James P.
    Cheng, Elaine
    Davis, Matthew J.
    Goh, Gerald
    Choi, Murim
    Ariyan, Stephan
    Narayan, Deepak
    Dutton-Regester, Ken
    Capatana, Ana
    Holman, Edna C.
    Bosenberg, Marcus
    Sznol, Mario
    Kluger, Harriet M.
    Brash, Douglas E.
    Stern, David F.
    Materin, Miguel A.
    Lo, Roger S.
    Mane, Shrikant
    Ma, Shuangge
    Kidd, Kenneth K.
    Hayward, Nicholas K.
    Lifton, Richard P.
    Schlessinger, Joseph
    Boggon, Titus J.
    Halaban, Ruth
    NATURE GENETICS, 2012, 44 (09) : 1006 - +
  • [42] Whole exome sequencing identifies causative compound heterozygous variants in PRF1 in late-onset familial hemophagocytic lymphohistiocytosis
    Sham, Marina
    Zhu, Rongbo
    Pasternak, Yehonatan
    LYMPHOSIGN JOURNAL-THE JOURNAL OF INHERITED IMMUNE DISORDERS, 2022, 9 (04): : 85 - 91
  • [43] Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma
    Michael Krauthammer
    Yong Kong
    Byung Hak Ha
    Perry Evans
    Antonella Bacchiocchi
    Jamie P McCusker
    Elaine Cheng
    Matthew J Davis
    Gerald Goh
    Murim Choi
    Stephan Ariyan
    Deepak Narayan
    Ken Dutton-Regester
    Ana Capatana
    Edna C Holman
    Marcus Bosenberg
    Mario Sznol
    Harriet M Kluger
    Douglas E Brash
    David F Stern
    Miguel A Materin
    Roger S Lo
    Shrikant Mane
    Shuangge Ma
    Kenneth K Kidd
    Nicholas K Hayward
    Richard P Lifton
    Joseph Schlessinger
    Titus J Boggon
    Ruth Halaban
    Nature Genetics, 2012, 44 : 1006 - 1014
  • [44] Whole Exome Sequencing Identifies De Novo Heterozygous CAV1 Mutations Associated with a Novel Neonatal Onset Lipodystrophy Syndrome
    Garg, Abhimanyu
    Kircher, Martin
    del Campo, Miguel
    Amato, R. Stephen
    Agarwal, Anil K.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (08) : 1796 - 1806
  • [45] Exome sequencing identifies novel compound heterozygous IFNA4 and IFNA10 mutations as a cause of impaired function in Crohn’s disease patients
    Chuan-Xing Xiao
    Jing-Jing Xiao
    Hong-Zhi Xu
    Huan-Huan Wang
    Xu Chen
    Yuan-Sheng Liu
    Ping Li
    Ying Shi
    Yong-Zhan Nie
    Shao Li
    Kai-Chun Wu
    Zhan-Ju Liu
    Jian-Lin Ren
    Bayasi Guleng
    Scientific Reports, 5
  • [46] Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination
    Shimojima, Keiko
    Shimada, Shino
    Tamasaki, Akiko
    Akaboshi, Shinjiro
    Komoike, Yuta
    Saito, Akira
    Furukawa, Toru
    Yamamoto, Toshiyuki
    BRAIN & DEVELOPMENT, 2014, 36 (04): : 315 - 321
  • [47] Achromatopsia Showing Compound Heterozygous Mutations in ATF6 by Whole Exome Sequencing: A Rare Case Report
    Wang, He
    Liu, Zeyuan
    Zhang, Yu
    Tao, Dan
    Li, Li
    JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS, 2023, 60 (05) : E65 - E69
  • [48] Exome sequencing identifies novel compound heterozygous IFNA4 and IFNA10 mutations as a cause of impaired function in Crohn's disease patients
    Xiao, Chuan-Xing
    Xiao, Jing-Jing
    Xu, Hong-Zhi
    Wang, Huan-Huan
    Chen, Xu
    Liu, Yuan-Sheng
    Li, Ping
    Shi, Ying
    Nie, Yong-Zhan
    Li, Shao
    Wu, Kai-Chun
    Liu, Zhan-Ju
    Ren, Jian-Lin
    Guleng, Bayasi
    SCIENTIFIC REPORTS, 2015, 5
  • [49] Case Report: Whole Exome Sequencing Identifies Compound Heterozygous Variants in TSFM Gene Causing Juvenile Hypertrophic Cardiomyopathy
    Yang, Jamie O.
    Shaybekyan, Hapet
    Zhao, Yan
    Kang, Xuedong
    Fishbein, Gregory A.
    Khanlou, Negar
    Alejos, Juan C.
    Halnon, Nancy
    Satou, Gary
    Biniwale, Reshma
    Lee, Hane
    Van Arsdell, Glen
    Nelson, Stanley F.
    Touma, Marlin
    FRONTIERS IN CARDIOVASCULAR MEDICINE, 2022, 8
  • [50] Rare Compound Heterozygous Frameshift Mutations in &ITALMS1&IT Gene Identified Through Exome Sequencing in a Taiwanese Patient With Alstrom Syndrome
    Tsai, Meng-Che
    Yu, Hui-Wen
    Liu, Tsunglin
    Chou, Yen-Yin
    Chiou, Yuan-Yow
    Chen, Peng-Chieh
    FRONTIERS IN GENETICS, 2018, 9