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
  • [31] The central and peripheral nervous system manifestations of COVID-19: pathogenic mechanisms
    Du Pasquier, R.
    EUROPEAN JOURNAL OF NEUROLOGY, 2021, 28 : 49 - 49
  • [32] Demyelinating and thrombotic disease of the central nervous system: common pathogenic and triggering factors
    Koudriavtseva, Tatiana
    Renna, Rosaria
    Plantone, Domenico
    Mainero, Caterina
    FRONTIERS IN NEUROLOGY, 2015, 6
  • [33] AMNIOTIC-FLUID COMPOSITION IN MALFORMATIONS OF FETAL CENTRAL NERVOUS-SYSTEM
    EMERY, AEH
    BROCK, DJH
    BURT, D
    ECCLESTON, D
    JOURNAL OF OBSTETRICS & GYNAECOLOGY OF THE BRITISH COMMONWEALTH, 1974, 81 (07): : 512 - 516
  • [34] Novel Pathogenic Mutations and Copy Number Variations in the VPS13A Gene in Patients With Chorea-Acanthocytosis
    Tomiyasu, Akiyuki
    Nakamura, Masayuki
    Ichiba, Mio
    Ueno, Shuichi
    Saiki, Shinji
    Morimoto, Mizuki
    Kobal, Jan
    Kageyama, Yasufumi
    Inui, Toshio
    Wakabayashi, Koichi
    Yamada, Tatsuo
    Kanemori, Yuji
    Jung, Hans H.
    Tanaka, Haruhiko
    Orimo, Satoshi
    Afawi, Zaid
    Blatt, Ilan
    Aasly, Jan
    Ujike, Hiroshi
    Babovic-Vuksanovic, Dusica
    Josephs, Keith A.
    Tohge, Rie
    Rodrigues, Guilherme Riccioppo
    Dupre, Nicolas
    Yamada, Hidetaka
    Yokochi, Fusako
    Kotschet, Katya
    Takei, Takanobu
    Rudzinska, Monika
    Szczudlik, Andrzej
    Penco, Silvana
    Fujiwara, Masaki
    Tojo, Kana
    Sano, Akira
    AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2011, 156B (05) : 620 - 631
  • [35] Copy Number Variation, Purified Eicosapentaenoic Acid, and Central Nervous System Disorders
    Manku, Mehar S.
    JOURNAL OF NUTRIGENETICS AND NUTRIGENOMICS, 2009, 2 (4-5) : 192 - 192
  • [36] Genotype-phenotype correlations of pathogenic copy number variations on X chromosome detected by comparative genomic hybridization
    Yalcintepe, Sinem
    Atli, Engin
    Atli, Emine Ikbal
    Demir, Selma
    Ozen, Yasemin
    Mail, Cisem
    Gurkan, Hakan
    HUMAN GENE, 2022, 33
  • [37] The Relationship Between Fetal Central Nervous System Malformations and Modified Myocardial Performance Index
    Kucukbas, Gokce Naz
    Bagci, Mustafa
    Sahin, Hanim Guler
    CUREUS JOURNAL OF MEDICAL SCIENCE, 2023, 15 (10)
  • [38] Fetal magnetic resonance imaging in midline malformations of the central nervous system and review of the literature
    Dill, P.
    Poretti, A.
    Boltshauser, E.
    Huisman, T. A. G. M.
    JOURNAL OF NEURORADIOLOGY, 2009, 36 (03) : 138 - 146
  • [39] Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis
    Elisa Caramaschi
    Ilaria Stanghellini
    Pamela Magini
    Maria Grazia Giuffrida
    Silvia Scullin
    Tiziana Giuva
    Patrizia Bergonzini
    Azzurra Guerra
    Paolo Paolucci
    Antonio Percesepe
    Italian Journal of Pediatrics, 40
  • [40] Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis
    Caramaschi, Elisa
    Stanghellini, Ilaria
    Magini, Pamela
    Giuffrida, Maria Grazia
    Scullin, Silvia
    Giuva, Tiziana
    Bergonzini, Patrizia
    Guerra, Azzurra
    Paolucci, Paolo
    Percesepe, Antonio
    ITALIAN JOURNAL OF PEDIATRICS, 2014, 40
12345