Phenotypic and genotypic characterization of 1q21. 1 copy number variants: A report of 34 new individuals and literature review

A Bourgois, V Bizaoui, C Colson… - American Journal of …, 2024 - Wiley Online Library
Abstract Recurrent 1q21. 1 copy number variants (CNVs) have been associated with a wide
spectrum of clinical features, ranging from normal phenotype to moderate intellectual …

Prenatal phenotypes and pregnancy outcomes of fetuses with 16p11. 2 microdeletion/microduplication

F Yue, M Hao, D Jiang, R Liu, H Zhang - BMC Pregnancy and Childbirth, 2024 - Springer
Abstract Background Chromosomal 16p11. 2 deletions and duplications are genomic
disorders which are characterized by neurobehavioral abnormalities, obesity, congenital …

Choroid plexus cysts: single nucleotide polymorphism array analysis of associated genetic anomalies and resulting obstetrical outcomes

M Cai, H Huang, L Su, X Wu, X Xie, L Xu… - Risk Management and …, 2021 - Taylor & Francis
Objective Choroid plexus cysts (CPC) are pseudocysts in the fetal choroid plexus and can
be detected during ultrasound examination. However, the etiology of fetuses with CPC is still …

Prenatal diagnosis and pregnancy outcomes in fetuses with ventriculomegaly

F Yue, X Yang, N Liu, R Liu, H Zhang - Frontiers in Medicine, 2024 - frontiersin.org
Objective Genetic etiology plays a critical role in fetal ventriculomegaly (VM). However, the
studies on chromosomal copy number variants (CNVs) in fetal VM are limited. This study …

[PDF][PDF] Retrospective analysis of genetic etiology and obstetric outcome of fetal cystic hygroma: A single-center study

M Cai, N Guo, N Lin, H Huang, L Xu - Medicine, 2022 - journals.lww.com
Background: Cystic hygroma (CH) is a relatively common observation in prenatal
ultrasounds; however, there are few studies about copy number variations (CNVs) of fetuses …

Prenatal phenotypes and pregnancy outcomes of fetuses with recurrent 1q21. 1 microdeletions and microduplications

F Yue, X Yang, Y Jiang, S Li, R Liu, H Zhang - Frontiers in Medicine, 2023 - frontiersin.org
Objective Chromosomal 1q21. 1 deletions and duplications are genomic disorders that are
usually diagnosed postnatally. However, the genotype–phenotype correlations of 1q21. 1 …

Pleiotropy of copy number variation in human genome

AA Kashevarova, GV Drozdov, DA Fedotov… - Russian Journal of …, 2022 - Springer
A brief history of the development of ideas about pleiotropy, its types, and the overall
prevalence of pleiotropic loci in the human genome, as well as pleiotropic variants and …

Genetic and ultrasonographic analyses of fetuses with 1q21. 1q21. 2 microdeletion/microduplication: a retrospective study

N Guo, H Xue, B Liang, H Huang, M Cai, L Xu - BMC Medical Genomics, 2023 - Springer
Abstract Background 1q21. 1q21. 2 microdeletions/microduplications are rare and
incompletely penetrant genetic mutations, and only a few reports regarding their prenatal …

[HTML][HTML] Prenatal detection of distal 18p deletion by chromosomal microarray analysis: Three case reports and literature review

T Xu, F Yue, J He, H Zhang, R Liu - Medicine, 2024 - journals.lww.com
Background: Chromosome 18p deletion syndrome is caused by total or partial deletion of
the short arm of chromosome 18 and associated with cognitive impairment, growth …

[PDF][PDF] 急性ST 段抬高型心肌梗死介入手术时间窗与血清FGF-21 水平的相关性

石磊, 郎雪梅, 蔡平军, 刘恋, 刘代利 - Age (years), 2022 - biomed.cnjournals.com
摘要目的: 探究急性ST 段抬高型心肌梗死介入手术时间窗与血清FGF-21 水平的相关性. 方法:
选取2019 年3 月-2021 年5 月在我院接受PPCI 手术并住院治疗且符合STEMI 诊断标准的73 …