[The value of Optical genome mapping technique for the verification of suspected chromosomal structural variations among patients undergoing assisted reproduction] [0.03%]
光学基因组学在辅助生殖患者疑似染色体结构变异中的价值探讨
Yuxin Zhang,Jiangyang Xue,Min Xie et al.
Yuxin Zhang et al.
Objective: To assess the value of Optical genome mapping (OGM) for the verification of chromosomal structural variations among patients undergoing assisting reproduction. ...
[Research advance on the clinical phenotypes and molecular genetic mechanisms of Microcephalic primordial dwarfism] [0.03%]
小头原发性侏儒症的临床表型和分子遗传机制研究进展
Linliang Hong,Ruimin Chen
Linliang Hong
Primordial dwarfism (PD) refers to a group of monogenic genetic disorders characterized by intrauterine growth restriction (IUGR) and severe, persistent postnatal growth retardation. These diseases have been associated with variants of mult...
[Research progress on the pathogenesis mechanism and therapeutic strategies of DCX mutants] [0.03%]
双纤毛动力蛋白复合物超家族突变致病机制及治疗策略研究进展
Xuyan Sun,Bei Li,Siyu Zhao et al.
Xuyan Sun et al.
The doublecortin (DCX) gene encodes DCX, a microtubule-associated protein that plays a crucial role in brain development. DCX variants can disrupt microtubule binding and stabilization, interfere with intracellular transport, and affect pos...
[Precise identification of a cryptic balanced translocation in a couple with recurrent spontaneous abortions using C-MoKa technique] [0.03%]
[利用C-MoKa技术精确识别复发性流产夫妇的隐蔽平衡易位]
Rui Fan,Yaru Liu,Tingting Ji et al.
Rui Fan et al.
Objective: Chromosome conformation-based karyotype analysis (C-MoKa) technology was used to test a couple who had experienced multiple adverse pregnancies in order to provide them with genetic counseling and reproductive ...
[Prenatal diagnosis of 22q11.2 microduplication syndrome in a three-generation family: Clinical-genetic characteristics and literature review] [0.03%]
[22q11.2微重复综合征的产前诊断——三例家系的临床特征、遗传特征及文献复习]
Yifan Liao,Yidong Wen,Xiaoqin Deng et al.
Yifan Liao et al.
Objective: To explore the genetic etiology for a pregnant woman with a history of multiple adverse pregnancies and assess the phenotype-genotype correlation of 22q11.2 microduplication syndrome in her family. ...
[Clinical and genetic analysis of a child with 46,XX male phenotype due to SOX3 gene duplication] [0.03%]
SOX3基因重复导致46,XX男性表型的临床和遗传分析
Xiou Wang,Fuying Song,Ziqin Liu et al.
Xiou Wang et al.
Objective: To summarize the clinical and genetic characteristics of a child with 46,XX Ovotesticular disorder of sex development (46,XX OTDSD) due to copy number variation of SOX3 gene. ...
[Pontocerebellar hypoplasia type 2B due to compound heterozygous variants of TSEN2 gene: A case report and literature review] [0.03%]
TSEN2复合杂合变异所致小脑皮质发育不全型 pontocerebellar hypoplasia 2B 1例报告及文献复习
Xueqin Lin,Hailan He,Saying Zhu et al.
Xueqin Lin et al.
Objective: To explore the clinical and genetic features of a child with Pontocerebellar hypoplasia type 2B (PCH2B) due to compound heterozygous variants of the TSEN2 gene. ...
[Development and validation of PhenoRAG: A visualization tool for automated human phenotype ontology term annotation based on large language models and retrieval-augmented generation technology] [0.03%]
基于大型语言模型和检索增强生成技术的自动化人类表型本体术语注释可视化工具PhenoRAG的开发与验证
Wei Zhong,Yousheng Yan,Kai Yang et al.
Wei Zhong et al.
Objective: To develop a user-friendly visualization application for the automatic annotation of Human Phenotype Ontology (HPO) terms based on large language models and retrieval-augmented generation (RAG) technology, and ...
[Prenatal ultrasound manifestations and postnatal follow-up of fetuses with 22q11.2 microdeletion syndrome] [0.03%]
22q11.2微缺失综合征胎儿的产前超声表现及产后随访分析
Xiaofei Liu,Ya&#x;nan Wang,Tizhen Yan et al.
Xiaofei Liu et al.
Objective: To explore the prenatal and postnatal phenotypes of 22q11.2 microdeletion syndrome (22q11.2DS) and enhance clinical understanding of this condition. ...
[Clinical characteristics and genetic analysis of 22 Chinese pedigrees affected with Neurofibromatosis type I] [0.03%]
[中国22例I型神经纤维瘤病家系的临床及基因分析]
Bingjie Hu,Xianhong Ding,Yang Lu et al.
Bingjie Hu et al.
Objective: To explore the genetic variants and phenotypic characteristics of patients with Neurofibromatosis type I (NF1). Methods: Twe...