[Analysis of CHD7 gene variants in 22 patients with idiopathic hypogonadotropic hypogonadism] [0.03%]
CHD7基因变异在22例特发性低促性腺激素性性腺功能减退症患者中的分析
Yidan Xie,Ruizhi Zheng,Binbin Han et al.
Yidan Xie et al.
Objective: To explore clinical evaluation and genetic analysis of patients with idiopathic hypogonadotropic hypogonadism (IHH). Methods: ...
[Factors affecting phenotypes in the patients with MMACHC gene c.609G>A homozygous variant cblC type methylmalonic acidemia combined with homocysteinuria] [0.03%]
MMACHC基因c.609G>A纯合突变型cblC型甲基丙二酸血症合并同型胱氨酸尿症表型影响因素分析
Ruxuan He,Ruo Mo,Yao Zhang et al.
Ruxuan He et al.
Objective: To investigate the factors affecting phenotypes in the patients of methylmalonic acidemia combined with homocysteinemia cblC type with MMACHC c.609G>A homologous variant. ...
[Research progress of cross-disease miRNA molecular markers in schizophrenia, bipolar disorder and depression] [0.03%]
精神分裂症、双相情感障碍和抑郁交叉疾病miRNA分子标记物研究进展
Yanni Ma,Chengcheng Zhang
Yanni Ma
Micro non-coding RNA (microRNA, miRNA) is a small non-coding RNA involved in gene expression regulation that plays an important role in the onset and development of mental illness. Evidence suggests that several miRNAs are dysregulated in p...
Jinhui Xie,Shuangyu Li,Mengli Xue et al.
Jinhui Xie et al.
Objective: To explore the molecular reasons of weak expression of B antigen on the red cell. Methods: Serological test for blood group ...
[Prenatal utility of parental source verification on the interpretation of copy number variation identified by chromosomal microarray analysis] [0.03%]
[产前检测中父母样本核实在染色体微阵列分析检测拷贝数变异解释中的应用价值]
Yang Yang,Hao Wang
Yang Yang
Objective: To investigate the parental-origin verification of fetal CNVs in the setting of prenatal diagnosis. Methods: 182 families we...
[Genetic and clinical analysis of a novel GLB1 gene variant in a Chinese patient with GM1-gangliosidosis] [0.03%]
GLB1基因新变异在中国GM1神经节苷脂贮积病患者中的遗传及临床分析
Shuangxi Cheng,Qingming Wang,Aixin Chen et al.
Shuangxi Cheng et al.
Objective: To explore the genotype-phenotype correlation of a case with GM1-gangliosidosis caused by compound heterogenic variants in GLB1. Methods: ...
[A rare case of dicentric ring chromosome and derivative ring chromosome Chimera] [0.03%]
[dicentric环状染色体和衍生环状染色体嵌合体一例报告]
Junzhen Zhu,Xiaoping Yu,Xiaofeng Qi et al.
Junzhen Zhu et al.
Objective: Utilize high-resolution chromosome analysis and microarray detection to determine the genetic etiology of infertility of a 32-year old female patient. ...
[Clinical and genetic analysis of a child with mental retardation autosomal dominant 7] [0.03%]
ADRD7所致智能障碍患儿的临床和遗传分析
Zhihong Zhuo,Yao Wang,Tianjiao Fu et al.
Zhihong Zhuo et al.
Objective: To analyze the clinical and genetic characteristics of a child with clinical manifestations of hypoplasia, epilepsy and abnormal face. Methods:...
[Identification of c.196C>T nonsense RUNX2 variant in a Chinese patient with cleidocranial dysplasia] [0.03%]
RUNX2基因c.196C>T终止突变与颅骨发育不全症患者的致病相关性研究
Bingna Zhou,Wenbin Zheng,Jing Hu et al.
Bingna Zhou et al.
Objective: To detect the genetic variant of a child with cleidocranial dysplasia (CCD) and to find out the causation of the illness. Methods: ...
[A novel splicing acceptor variant of the FBN2 gene contributes to a case of congenital contractural arachnodactyly] [0.03%]
[FBN2基因新的剪接接受位点突变导致马方样指距管风琴症1例]
Xiaolan Tan,Xiangyou Leng,Dachang Tao et al.
Xiaolan Tan et al.
Objective: To identify the pathogenic variants from a patient with suspected congenital contractural arachnodactyly, and to explore the possible molecular genetic pathogenesis, so as to provide evidence for clinical diagn...