[A multicenter retrospective study on the clinicopathological features, genetic variant profiles and prognosis of patients with previously untreated Diffuse large B-cell lymphoma] [0.03%]
中国多中心弥漫大B细胞淋巴瘤初治患者临床特征、遗传变异及预后研究回顾性分析
Yongning Jiang,Jie Zhang,Yaping Zhang et al.
Yongning Jiang et al.
Objective: To explore the impact of age on the genetic variant spectrum and prognosis of patients with previously untreated Diffuse large B-cell lymphoma (DLBCL). ...
[Audiological characterization of the GJB2 gene c.109G>A (p.V37I) hotspot variant during childhood and comparison between family members] [0.03%]
儿童GJB2基因c.109G>A热点变异的听力表型特征及家族内比较研究
Zhoushu Zheng,Jiangyang Xue,Lu Ding et al.
Zhoushu Zheng et al.
Objective: To determine the prevalence of GJB2 gene c.109G>A (p.V37I) variant among infants with congenital hearing loss and analyze the initial audiological characteristics of children harboring the variant, compare the ...
[Association of CDC42 gene polymorphisms with Pulmonary arterial pressure among patients with Congenital heart disease] [0.03%]
CDC42基因多态性与先天性心脏病患者肺动脉压的关系研究
Teng Yuan,Feng Zhu,Ren Tian et al.
Teng Yuan et al.
Objective: To assess the association of single nucleotide polymorphisms (SNP) of the cell division cycle 42 (CDC42) gene with Pulmonary artery systolic pressure (PASP) among patients with Congenital heart disease (CHD). ...
[Analysis of clinical phenotypes and genotypic characteristics in children with epilepsy] [0.03%]
儿童癫痫的临床表型及基因型特征分析
Yanli Jiang,Lulu Yan,Bin Fu et al.
Yanli Jiang et al.
Objective: To investigate the clinical phenotypes and genetic variant characteristics in children with epilepsy. Methods: A total of 91...
[Characteristics of KIR3DP1 gene haplotypes among Zhejiang Han Chinese population revealed by next- generation sequencing] [0.03%]
基于下一代测序技术的浙江汉族人群KIR3DP1基因型特点分析
Sudan Tao,Xuan You,Qimin Wu et al.
Sudan Tao et al.
Objective: The haplotypes of Killer cell immunoglobulin-like receptors (KIR) can be divided into centromeric and telomeric ones. As the terminal gene at the centromeric end, KIR3DP1 plays an important role in stabilizing ...
[Application of chromosomal microarray analysis in the prenatal diagnosis of fetuses with isolated Congenital anomalies of the kidney and urinary tract] [0.03%]
染色体微阵列分析在孤立型肾输尿管畸形胎儿产前诊断中应用价值的研究
Xiaoyu Du,Yan Miao,Jiashan Li et al.
Xiaoyu Du et al.
Objective: To explore the detection rate of copy number variations (CNVs) in fetuses with isolated Congenital anomalies of the kidney and urinary tract (CAKUT) and pregnancy outcomes in order to provide a basis for geneti...
[Analysis of pathogenic variant carriage for MYO7A, PCDH15, and CDH23 genes among newborns based on high-throughput sequencing technique] [0.03%]
基于高通量测序技术的新生儿MYO7A、PCDH15和CDH23基因致病变异携带率分析
Yahong Li,Yun Sun,Xin Wang et al.
Yahong Li et al.
Objective: To analyze the carrier rates and profiles of pathogenic and likely pathogenic variants for hearing loss-related genes MYO7A, PCDH15, and CDH23 among neonates in Nanjing city through targeted next-generation seq...
[Clinical phenotype and genetic analysis of a fetus with a novel mutation of OTX2 gene] [0.03%]
OTX2基因新型突变胎儿的临床表型和遗传分析
Ying Zhou,Yuxin Zhang,Lulu Yan et al.
Ying Zhou et al.
Objective: To investigate the clinical characteristics and genetic etiology of a fetus with bilateral ear malformation and microphthalmia. Methods: ...
[A case of mosaicism involving trisomy 21, maternal uniparental isodisomy, and normal diploid cells: Challenges and reflections in prenatal diagnosis] [0.03%]
[一例21三体、母系单亲二倍体等位基因同源染色体不分离和正常二倍体镶嵌的病例报告：产前诊断中的挑战与思考]
Chenxia Xu,Xingsheng Dong,Yi Xiong et al.
Chenxia Xu et al.
Objective: To report on a case of mosaicism involving trisomy 21, maternal uniparental isodisomy, and normal diploid cells in uncultured amniocytes, and to explore the discrepancies between conventional cytogenetic and mo...
[Genetic analysis of a child with Progressive familial intrahepatic cholestasis type II due to a homozygous variant of ABCB11 gene] [0.03%]
ABCB11基因纯合突变所致进行性家族遗传性肝内胆汁淤积症Ⅱ型家系的基因分析
Wenbo Zhu,Xiaotai Huang,Zhikao Deng et al.
Wenbo Zhu et al.
Objective: To explore the clinical manifestations and genetic etiology of a child with Progressive familial intrahepatic cholestasis (PFIC2). Methods: ...