A modified multiplex ligation-dependent probe amplification method for the detection of 22q11.2 copy number variations in patients with congenital heart disease

被引：0
|
作者：
Xiaoqing Zhang
Yuejuan Xu
Deyuan Liu
Juan Geng
Sun Chen
Zhengwen Jiang
Qihua Fu
Kun Sun
机构：
[1] Shanghai Jiao Tong University School of Medicine,Department of Laboratory Medicine, Shanghai Children’s Medical Center
[2] Shanghai Jiao Tong University School of Medicine,Department of Pediatric Cardiology, Xinhua Hospital
[3] Genesky Diagnostics (Suzhou) Inc,undefined
来源：
BMC Genomics | / 16卷
关键词：
Copy number variation; 22q11.2 deletion; Congenital heart disease; Multiplex ligation-dependent probe amplification;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 38 条
  • [1] A modified multiplex ligation-dependent probe amplification method for the detection of 22q11.2 copy number variations in patients with congenital heart disease
    Zhang, Xiaoqing
    Xu, Yuejuan
    Liu, Deyuan
    Geng, Juan
    Chen, Sun
    Jiang, Zhengwen
    Fu, Qihua
    Sun, Kun
    BMC GENOMICS, 2015, 16
  • [2] Analysis of gene copy number variations in patients with congenital heart disease using multiplex ligation-dependent probe amplification
    Mutlu, Esra Tuba
    Aykan, Hayrettin Hakan
    Karagoz, Tevfik
    ANATOLIAN JOURNAL OF CARDIOLOGY, 2018, 20 (01) : 9 - 15
  • [3] Copy number variants detection by microarray and multiplex ligation-dependent probe amplification in congenital heart diseases
    Nagy, Orsolya
    Szakszon, Katalin
    Biro, Brigitta Orsolya
    Mogyorosy, Gabor
    Nagy, Dora
    Nagy, Bailin
    Balogh, Istvan
    Ujfalusi, Aniko
    JOURNAL OF BIOTECHNOLOGY, 2019, 299 : 86 - 95
  • [4] A Pilot Study of Multiplex Ligation-Dependent Probe Amplification Evaluation of Copy Number Variations in Romanian Children with Congenital Heart Defects
    Bolundut, Alexandru Cristian
    Nazarie, Florina
    Lazea, Cecilia
    Sufana, Crina
    Miclea, Diana
    Lazar, Calin
    Mihu, Carmen Mihaela
    GENES, 2024, 15 (02)
  • [5] Screening of Congenital Heart Disease Patients Using Multiplex Ligation-Dependent Probe Amplification: Early Diagnosis of Syndromic Patients
    Sorensen, Karina Meden
    El-Segaier, Milad
    Fernlund, Eva
    Errami, Ab
    Bouvagnet, Patrice
    Nehme, Nancy
    Steensberg, Jesper
    Hjortdal, Vibeke
    Soller, Maria
    Behjati, Mohaddeseh
    Werge, Thomas
    Kirchoff, Maria
    Schouten, Jan
    Tommerup, Niels
    Andersen, Paal Skytt
    Larsen, Lars Allan
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (04) : 720 - 725
  • [6] Multiplex ligation-dependent probe amplification copy number variant analysis in patients with acquired long QT syndrome
    Williams, Victoria S.
    Cresswell, Carl J.
    Ruspi, Gerhard
    Yang, Tao
    Atak, Thomas C.
    McLoughlin, Matthew
    Ingram, Christiana D.
    Ramirez, Andrea H.
    Roden, Dan
    Armstrong, Martin
    EUROPACE, 2015, 17 (04): : 635 - 641
  • [7] Multiplex ligation-dependent probe amplification identifies copy number changes in normal and undetectable karyotype MDS patients
    Ma, Jing
    Ai, Xiaofei
    Wang, Jinhuan
    Xing, Limin
    Tian, Chen
    Yang, Hongliang
    Yu, Yong
    Zhao, Haifeng
    Wang, Xiaofang
    Zhao, Zhigang
    Wang, Yafei
    Cao, Zeng
    ANNALS OF HEMATOLOGY, 2021, 100 (09) : 2207 - 2214
  • [8] A multiplex ligation-dependent probe amplification-based next-generation sequencing approach for the detection of copy number variations in the human genome
    Yang, Yongchen
    Xia, Chaoran
    Zhou, Zaiwei
    Wei, Dongkai
    Xu, Kangping
    Jia, Jia
    Xu, Wuhen
    Zhang, Hong
    MOLECULAR MEDICINE REPORTS, 2018, 18 (06) : 5823 - 5833
  • [9] Rapid Detection of Aneuploidy and Unbalanced Chromosomal Rearrangements by Subtelomeric Multiplex Ligation-Dependent Probe Amplification in Fetuses with Congenital Heart Disease
    Wang, Jing
    Liu, Zhen
    Liu, Hongqian
    Li, Nana
    Li, Shengli
    Chen, Xinlin
    Lin, Yuan
    Wang, He
    Zhu, Jun
    Liu, Shanling
    FETAL DIAGNOSIS AND THERAPY, 2013, 34 (02) : 110 - 115
  • [10] Analysis of gene copy number alterations by multiplex ligation-dependent probe amplification in columnar cell lesions of the breast
    Verschuur-Maes, Anoek H. J.
    Moelans, Cathy B.
    de Bruin, Peter C.
    van Diest, Paul J.
    CELLULAR ONCOLOGY, 2014, 37 (02) : 147 - 154
1234