性发育异常是一种少见的先天性畸形,患者在性染色体、性腺、性激素水平及内外生殖器等方面表现异常。其分子遗传学病因复杂,临床表现多样,诊疗过程需要依靠多学科团队的综合判断。目前,随着基因检测、染色体核型分析等技术的发展,其诊断方式逐渐由传统手段向染色体与基因层面发展。并且,辅助生殖技术的发展也为相关患者实现生育愿望带来更多机会。同时,由于存在性腺位置异常、细胞异常分化等高危因素,该类患者性腺发生恶性肿瘤的概率较正常性腺组织明显升高。
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[Peak growth hormone and insulin-like growth factor 1 levels in girls with isolated premature thelarche and their predictive value for central precocious puberty]. [PDF]
Chen J +5 more
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[Causal relationship between gut microbiota and T cell subsets in the development of colorectal cancer: a Mendelian randomization analysis]. [PDF]
Yu Z +8 more
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[Forensic performance and genetic background analyses of Guizhou Chuanqing population using a self-constructed microhaplotype panel]. [PDF]
Zhang H +11 more
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[Relationship between polygenic risk scores for various psychiatric disorders and clinical and neuropsychological characteristics in children with attention-deficit/hyperactivity disorder]. [PDF]
Wu ZM +11 more
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[Undergraduate innovation training experiment: zooarchaeology by mass spectrometry for species identification of paleontological remnants]. [PDF]
Xu Y, Jiang LY, Yang SS.
europepmc +1 more source
[HOTAIR rs920778 single nucleotide polymorphism is associated with breast cancer susceptibility and HER2-targeted therapy resistance in Chinese population]. [PDF]
Zhang M, Sun F, Han Z, Gao Y, Luo Y.
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[Drug repositioning prediction based on dynamic feature learning on heterogeneous graphs]. [PDF]
Zhu H, Guo Y, Xin X, Li C, Zhou D.
europepmc +1 more source
[Identifying genetic etiology of ischemic stroke based on pleiotropy of obesity related genes: A sibling study]. [PDF]
Wang K +10 more
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