[Clinical and genetic characteristics of congenital adrenal hyperplasia: a retrospective analysis]. [PDF]
Wang CJ +8 more
europepmc +1 more source
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。
郭艳雪 +3 more
doaj
[Transcriptomic characteristics of cervical endplate cartilage in cervical spondylosis and effects of acupotomy on the FGF18/Akt axis with cervical spondylosis]. [PDF]
Liu F +9 more
europepmc +1 more source
[Diagnostic utility of multiparametric flow cytometric immunophenotyping in myelodysplastic neoplasms]. [PDF]
Xiao XY, Shen YN.
europepmc +1 more source
[Resistance to thyroid hormone syndrome with developmental disorders in two children]. [PDF]
Liao LY, Li XF, Zhang XX.
europepmc +1 more source
[Donor leukemia relapse and conversion type after allogeneic hematopoietic stem cell transplantation: a case report]. [PDF]
Li RJ, Xiong M, Wang G, Cui Z, Zhu JL.
europepmc +1 more source
[Shihu Mixture alleviates diabetic cardiomyopathy in rats by Sirt3-mediated upregulation of myocardial mitochondrial mitophagy pathway]. [PDF]
Lin X, He Y, Shi H, Liu J, Hu H.
europepmc +1 more source
[A case report of primary hypomagnesemia with secondary hypocalcemia caused by <i>TRPM6</i> gene variants]. [PDF]
Zhou MY, Tang XJ, Lin SX, Chen CF.
europepmc +1 more source
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。
doaj +2 more sources

