[Application of genomic copy number variation detection technology in prenatal diagnosis of 7617 pregnant women with serological screening abnormalities during the second trimester of pregnancy] [0.03%]
孕妇血清筛查阳性标本中染色体拷贝数变异检测技术的应用价值（7617例孕中期唐氏筛查异常孕妇）
Jia Huang,Dong Wu,Yue Gao et al.
Jia Huang et al.
Objective: To analyze the genomic variation characteristics of fetal with abnormal serological screening, and to further explore the value of copy number variation (CNV) detection technology in prenatal diagnosis of fetal...
[Expert consensus on the scientific management of serum prenatal screening] [0.03%]
《血清学产前筛查科学管理专家共识》
The Medical Genetics Committee Of The Chinese Eugenics Science Association,Jianying Li,Mingcong She et al.
The Medical Genetics Committee Of The Chinese Eugenics Science Association et al.
Serum prenatal screening in the second trimester is currently the prenatal screening method with the highest population coverage rate, and large-scale serum prenatal screening has become a trend. The Medical Genetics Committee of the Chines...
[Expert consensus on the application of prenatal exome sequencing for fetal structural anomalies] [0.03%]
产前外显子组测序在胎儿结构畸形中应用的专家共识
Application Collaboration Group Of Whole Exome Sequencing In Prenatal Diagnosis,Guiyu Lou,Qiaofang Hou et al.
Application Collaboration Group Of Whole Exome Sequencing In Prenatal Diagnosis et al.
Prospective research have shown that whole exome sequencing (WES) may be considered when a diagnosis cannot be obtained using routine prenatal methods, e.g., chromosomal karyotyping and copy number variation sequencing, for fetuses with sig...
[Advance in the diagnosis and treatment of hereditary thrombotic thrombocytopenic purpura] [0.03%]
遗传性血栓性血小板减少性紫癜的诊断及治疗进展
Wanying Liu,Yi Xiao
Wanying Liu
Congenital thrombotic thrombocytopenic purpura, also known as Upshaw-Schulman syndrome, is a rare autosomal recessive genetic disorder. The main pathogenesis is homozygous or compound heterozygous variants of von Willebrand factor lyase (AD...
[Advance in research on genetic polymorphisms associated with athletic ability] [0.03%]
运动能力相关基因多态性研究进展
Bonan Dong,Tingting Zhang,Qiuyan Li et al.
Bonan Dong et al.
Genetic factors play a key role in human athletic ability, and endurance quality and explosive power quality are the important components of athletic ability. In this review, we aimed to reveal the biological genetic mechanism of human athl...
[Pathogenic genes and corresponding ciliary defects associated with primary ciliary dyskinesia] [0.03%]
与原发性纤毛运动障碍相关致病基因及相应的纤毛结构缺陷
Lina Wang,Baoping Xu,Liwei Gao
Lina Wang
Primary ciliary dyskinesia (PCD) is a recessive genetic disorder of motile cilia with substantial genetic and phenotypic heterogeneity. Clinical features of PCD vary from one patient to another, and no single test has the sensitivity and sp...
[Analysis of ADNP gene variant in a child with Helsmoortel-van der Aa syndrome] [0.03%]
ADNP基因变异在Helsmoortel-van der Aa综合征患儿中的分析
Jian Ma,Haixia Ma,Kaihui Zhang et al.
Jian Ma et al.
Objective: To explore the genetic basis for a child manifesting with intellectual disability, language delay and autism spectrum disorder. Methods: ...
[Genetic analysis and prenatal diagnosis of a fetus with Xq25 microduplication] [0.03%]
Xq25微重复胎儿的基因分析及产前诊断
Xiangyi Jing,Min Pan,Ru Li et al.
Xiangyi Jing et al.
Objective: To explore the genetic basis for a fetus with structural brain abnormalities. Methods: The karyotypes of the fetus and its p...
[Analysis of IQSEC2 gene variant in a child with X-linked mental retardation] [0.03%]
IQSEC2基因变异所致X-连锁智力障碍1例分析
Jianbo Zhao,Xinying Yang,Jiuwei Li et al.
Jianbo Zhao et al.
Objective: To analyze the clinical phenotype and genetic variants of a child with X-linked mental retardation caused by IQSEC2 gene mutation, and provide reference for the diagnosis of the disease. ...
[Diagnosis of a child with mitochondrial myopathy and cerebellar atrophy with ataxia due to compound heterozygous variants of MSTO1 gene] [0.03%]
MSTO1复合杂合突变导致的线粒体肌病伴小脑萎缩共济障碍的儿童诊断病例报告
Yang Tian,Zhen Shi,Chi Hou et al.
Yang Tian et al.
Objective: To explore the genetic basis for a child with myopathy and cerebellar atrophy with ataxia. Methods: Clinical examinations an...