[From prenatal screening to passive diagnosis in adulthood: Phenotypic association analysis of 224 patients with Klinefelter syndrome] [0.03%]
[klinefelter综合征的临床表型特征分析（224例肾形费尔特氏症患者的临床表型关联分析：从产前筛查到成人的被动诊断）]
Huanhuan Zhang,Yong Wu,Yamei Xie et al.
Huanhuan Zhang et al.
Objective: To investigate the detection patterns, clinical phenotypic characteristics, and differences in diagnostic timeliness of Klinefelter syndrome (KS) across prenatal and postnatal stages, with an aim to provide a b...
[Application of artificial intelligence-assisted chromosome karyotyping analysis in prenatal diagnosis of chromosomal mosaicism] [0.03%]
人工智能辅助染色体核型分析在胎儿嵌合体产前诊断中的应用研究
Ling Zhao,Shiwei Sun,Qinghua Zheng et al.
Ling Zhao et al.
Objective: To explore the application value of artificial intelligence (AI)-assisted chromosomal karyotype analysis in the diagnosis of prenatal chromosomal mosaicism. ...
[Expert consensus on newborn genetic screening process, interpretation of results, and recall (2026 Edition)] [0.03%]
[新生儿遗传代谢病筛查程序、结果解读及召回专家共识（2026版）]
Genetic And Metabolic Disorders Screening Subgroup Of The Birth Defects Prevention And Control Committee Chinese Preventive Medicine Association,Rare Diseases Branch Of Shandong Medical Association,Genetic Metabolism Branch Of Shandong Provincial Rare Dis
Genetic And Metabolic Disorders Screening Subgroup Of The Birth Defects Prevention And Control Committee Chinese Preventive Medicine Association
High-throughput sequencing technology has recently been used in neonatal disease screening. To address the issues related to the screening process, interpretation of screening results, and recall of positive cases in neonatal genetic screen...
[Consensus on method selection, experimental testing, and data analysis of newborn genetic screening (2026 Edition)] [0.03%]
新生儿遗传筛查的方法选择、实验检测和数据分析共识(2026版)
Screening Group Of Neonatal Genetic Metabolic Disease Special Committee Of Birth Defects Prevention And Control Chinese Preventive Medical Association,Yun Yang,Lianshu Han
Screening Group Of Neonatal Genetic Metabolic Disease Special Committee Of Birth Defects Prevention And Control Chinese Preventive Medical Association
High-throughput sequencing is a revolutionary technology in newborn screening following tandem mass spectrometry. However, there is a lack of consensus regarding technical choices for laboratory implementation, detection procedures, and dat...
[Linking tetrahydrobiopterin depletion to ferroptosis: A novel mechanism of neurological injury in Hyperphenylalaninemia] [0.03%]
[高苯丙氨酸血症铁死亡的新机制：四氢生物蝶呤的耗竭]
Huizhong Li,Yanli Shen,Zhou Wei
Huizhong Li
Hyperphenylalaninemia (HPA) is an inherited metabolic disorder caused by deficiency of phenylalanine hydroxylase, characterized by significantly elevated phenylalanine levels. Conventional mechanisms, such as neurotransmitter deficiency and...
Zhiqiang Qin,Xiaomin Zhang
Zhiqiang Qin
MIRAGE syndrome is a rare autosomal dominant disorder caused by gain-of-function mutations of the SAMD9 gene. Its typical clinical manifestations include myelodysplasia, intrauterine growth restriction, adrenal hypoplasia, genital abnormali...
[Clinical phenotype and genetic analysis of a fetus with abnormal development due to a rare paternal t(10;14)(p11.2;p11) translocation] [0.03%]
父亲罕见t（10;14）（p11.2;p11）平衡易位致胎儿发育异常的临床表型及基因分析
Fengni Fan,Rong Qiang,Cuiyun Qin et al.
Fengni Fan et al.
Objective: To explore a case of abnormal fetal development due to a rare paternal t(10;14)(p11.2;p11) translocation. Methods: A fetus u...
[Genetic analysis of a phenotypically normal male with SRY gene-positive 46,XX/46,XY tetrameric chimerism] [0.03%]
[SRY基因阳性46,XX/46,XY四体嵌合体表型正常男性1例的基因分析]
Weiguo Zhang,Mengxue Wu,Zhi Yang et al.
Weiguo Zhang et al.
Objective: To investigate the clinical characteristics and genetic etiology of a male with a normal phenotype and SRY gene-positive 46,XX/46,XY tetrazoospermia chimerism. ...
[Clinical characteristics and genetic analysis of a patient with Kennedy disease with secondary infertility as the initial symptom] [0.03%]
Kennedy病1例报告及遗传分析：以继发不育为主要临床表现
Jie Chen,Yinshan Jin,Xuebao Zhang et al.
Jie Chen et al.
Objective: To explore the clinical features and genetic basis of a male patient with Kennedy disease(KD) presenting as secondary infertility. Methods: ...
[Identification and functional analysis of a novel variant of CHD23 gene in a Chinese pedigree affected with Non-syndromic autosomal recessive deafness 12] [0.03%]
中国一例非综合征型常染色体隐性遗传耳聋家系中CHD23基因新突变的鉴定及功能分析
Litao Qin,Zengguo Ren,Meiying Wang et al.
Litao Qin et al.
Objective: To analyze a Chinese pedigree affected with Non-syndromic autosomal recessive deafness type 12 (NFNB12), validate the function of candidate variants, and explore the underlying mechanisms. ...