[Analysis of the distribution frequencies of HLA-A and HLA-B alleles in patients with immune-mediated Platelet transfusion refractoriness] [0.03%]
免疫性血小板输注无效患者HLA-A和HLA-B等位基因分布频率分析
Ying Liu,Zuonian Xie,Heqiong Liu et al.
Ying Liu et al.
Objective: To analyze the distribution frequency and characteristics of HLA-A and HLA-B loci in patients with immune-mediated Platelet transfusion refractoriness (iPTR) in order to provide data support for investigating H...
[Advances in the treatment and genetics and translational research of patients with Mantle cell lymphoma] [0.03%]
[Mantle细胞淋巴瘤治疗、遗传及转化研究进展]
Shuhua Yi,Lugui Qiu
Shuhua Yi
Mantle cell lymphoma (MCL) is a rare B-cell lymphoma characterized by both the incurable nature of indolent lymphomas and the clinical course of aggressive lymphomas. The integration of high-dose cytosine arabinoside (Ara-C) and autologous ...
[Research progress on the molecular genetic mechanism of Parkinson's disease] [0.03%]
帕金森病分子遗传机制研究进展
Wei Quan
Wei Quan
The pathogenesis of Parkinson's disease is closely related to genetic factors. This article has systematically reviewed the research progress of molecular genetic mechanism on Parkinson's disease by focusing on the role of six high-penetran...
[Genetic analysis of two cases of submicroscopic chromosomal structural variants leading to abnormal pregnancies] [0.03%]
[sub显微镜下染色体结构变异致异常妊娠家系的基因分析]
Chengxiu Xie,Xiong Zhu,Yacong Wang et al.
Chengxiu Xie et al.
Objective: To investigate the genetic mechanism for adverse pregnancies due to submicroscopic chromosomal structural variants in two cases, and to provide a precise guidance for preimplantation genetic testing. ...
[Genetic analysis and prenatal diagnosis of structural brain abnormalities associated with TUBB gene c.155A>G variant] [0.03%]
TUBB基因c.155A>G变异相关的结构性脑异常的遗传分析及产前诊断
Yifan Liu,Wei Song,Xinlian Wang et al.
Yifan Liu et al.
Objective: To explore the genotype-phenotype correlation in a Chinese family with structural brain abnormalities due to variant of the TUBB gene. Methods:...
[Analysis of a three-generation Chinese pedigree affected with Hereditary spastic paraplegia type 3A due to variant of ATL1 gene] [0.03%]
ATL1基因突变导致的遗传性痉挛性截瘫家系分析
Zhenhua Gong,Fengjuan He,Changshui Chen et al.
Zhenhua Gong et al.
Objective: To explore the genetic basis for a Chinese pedigree affected with Hereditary spastic paraplegia type 3A (SPG3A) and the genotype-phenotype correlation. ...
[Phenotypic heterogeneity and management strategies for two brothers with XIAP deficiency syndrome] [0.03%]
[XIAP缺陷综合征两兄弟的表型异质性及管理策略]
Hui Hu,Shengnan Wu,Kai Chen et al.
Hui Hu et al.
Objective: To summarize the clinical features and management of two brothers affected with X-linked inhibitor of apoptosis protein (XIAP) deficiency. Meth...
[Association of microRNA gene polymorphisms with risk, clinicopathological characteristics and therapeutical efficacy among Chinese patients with Crohn's disease] [0.03%]
微小核糖核酸基因多态性与中国克罗恩病患者发病风险、临床特点及治疗疗效的关系研究
Yanlun Zhang,Xiaoxiao Shao,Daopo Lin et al.
Yanlun Zhang et al.
Objective: To assess the association of microribonucleic acid (miRNA) gene polymorphisms with the risk and clinicopathological characteristics of Crohn's disease (CD) and the influence of miRNA gene variants on the respon...
[Molecular mechanism study of fetal nasal bone aplasia due to a frameshift variant of ARSL gene] [0.03%]
ARSL基因移码突变致胎儿鼻骨缺失的分子机制研究
Yuanzhen Zhu,Ke Wu,Dandan Wu
Yuanzhen Zhu
Objective: To analyze the clinical phenotype and pathogenic mechanism of the ARSL gene variant in a fetus with nasal bone aplasia. Methods: ...
[Prenatal phenotype and genetic analysis of two fetuses with Osteocraniostenosis due to variants of FAM111A gene] [0.03%]
FAM111A基因变异致骨颅狭小综合征两个胎儿的 prenatal表型及遗传分析
Lingyi Zhang,Zhigang Zhang,Xingguang Wang et al.
Lingyi Zhang et al.
Objective: To investigate the prenatal manifestation and genetic basis for two fetuses suspected for Osteocraniostenosis (OCS). Methods: ...