Pathogenic/likely pathogenic copy number variations and regions of homozygosity in fetal central nervous system malformations

被引：0
|
作者：
Yunxiao Zhi
Ling Liu
Shihong Cui
Ying Li
Xiaolin Chen
Jia Che
Xiao Han
Lanlan Zhao
机构：
[1] Department of the Third Hospital of Zhengzhou University,
来源：
Archives of Gynecology and Obstetrics | 2023年 / 308卷
关键词：
P/LP CNVs; ROH; Fetus; Central nervous system; SNP array; Abnormality;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：1723 / 1735
页数：12
相关论文
共 50 条
  • [41] Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization
    Fan, Yao-Shan
    Jayakar, Parul
    Zhu, Hongbo
    Barbouth, Deborah
    Sacharow, Stephanie
    Morales, Ana
    Carver, Virginia
    Benke, Paul
    Mundy, Peter
    Elsas, Louis J.
    HUMAN MUTATION, 2007, 28 (11) : 1124 - 1132
  • [42] Central nervous system infections caused by pathogenic free-living amoebae: An Indian perspective
    Raju, R.
    Khurana, S.
    Mahadevan, A.
    John, D., V
    TROPICAL BIOMEDICINE, 2022, 39 (02) : 265 - 280
  • [43] Multiple sclerosis: A protective or a pathogenic role for heat shock protein 60 in the central nervous system?
    Raine, CS
    Wu, E
    Ivanyi, J
    Katz, D
    Brosnan, CF
    LABORATORY INVESTIGATION, 1996, 75 (01) : 109 - 123
  • [44] Central nervous system as a target of novel coronavirus infections: Potential routes of entry and pathogenic mechanisms
    Sapana Sharma
    Harsha Jagadeesh
    Ambrish Saxena
    Harshini Chakravarthy
    Vasudharani Devanathan
    Journal of Biosciences, 2021, 46
  • [45] Central nervous system as a target of novel coronavirus infections: Potential routes of entry and pathogenic mechanisms
    Sharma, Sapana
    Jagadeesh, Harsha
    Saxena, Ambrish
    Chakravarthy, Harshini
    Devanathan, Vasudharani
    JOURNAL OF BIOSCIENCES, 2021, 46 (04)
  • [46] Comparison of noninvasive prenatal screening for defined pathogenic microdeletion/microduplication syndromes and nonsyndromic copy number variations: a large multicenter study
    Yang, Li
    Bu, Guosen
    Ma, Yuyu
    Zhao, Jing
    Rezak, Jiamilla
    La, Xiaolin
    JOURNAL OF COMPARATIVE EFFECTIVENESS RESEARCH, 2022, 11 (17) : 1277 - 1291
  • [47] CONGENITAL MALFORMATIONS WITH SEVERE DAMAGE TO THE CENTRAL NERVOUS SYSTEM DUE TO EARLY FETAL VIRUS INFECTION
    LANDE, L
    JOURNAL OF PEDIATRICS, 1950, 36 (05): : 625 - 634
  • [48] Cxcl10+ monocytes define a pathogenic subset in the central nervous system during autoimmune neuroinflammation
    Amir Giladi
    Lisa Katharina Wagner
    Hanjie Li
    Dorothea Dörr
    Chiara Medaglia
    Franziska Paul
    Anat Shemer
    Steffen Jung
    Simon Yona
    Matthias Mack
    Achim Leutz
    Ido Amit
    Alexander Mildner
    Nature Immunology, 2020, 21 : 525 - 534
  • [49] Family of three with truncating pathogenic variant in NFIA leading to central nervous system and urinary tract defects
    Lequang, Timothy
    Aliu, Ermal
    GENETICS IN MEDICINE, 2022, 24 (03) : S104 - S104
  • [50] Cxcl10+ monocytes define a pathogenic subset in the central nervous system during autoimmune neuroinflammation
    Giladi, Amir
    Wagner, Lisa Katharina
    Li, Hanjie
    Doerr, Dorothea
    Medaglia, Chiara
    Paul, Franziska
    Shemer, Anat
    Jung, Steffen
    Yona, Simon
    Mack, Matthias
    Leutz, Achim
    Amit, Ido
    Mildner, Alexander
    NATURE IMMUNOLOGY, 2020, 21 (05) : 525 - +
12345