Zhongshan Daxue xuebao. Yixue kexue ban目的为了提升胎儿股骨短小（FL）的遗传学病因诊断水平，探讨全外显子组测序（WES）与染色体异常检测联合应用在产前诊断中的价值。方法选取2023年11月至2025年5月于中山大学孙逸仙纪念医院深汕中心医院产前诊断与医学遗传中心就诊的27例孕中晚期股骨短小胎儿［FL＜同孕周第5百分位数或＜-2标准差（SD）］为研究对象，采集羊水或脐血样本并行染色体核型分析（19例）、染色体微阵列分析（CMA）或低深度全基因组测序（CNV-seq）（27例），并开展家系三重全外显子组测序（Trio-WES）（27例 ...
陈曼绮 +7 more
doaj
半套式荧光定量聚合酶链反应检测肾移植前后 人巨细胞病毒感染状态
Zhongshan Daxue xuebao. Yixue kexue ban, 1999 目的: 研究肾移植受者手术前后人巨细胞病毒( HCMV)的感染率及 HCMV-DNA 含量变化。 方法: 采用半套式荧 光定量聚合酶链反应(AmpliSensor-PCR)方法定量检测术前肾移植受者61例, 术后 32例, 用四格表比较手术前、后的感染率,用 t 检验比较病毒含量。结果: 手术前、后肾移植受者 HCMV 的感染率分别为 77%和 87. 5%;HCMV-DNA 平均含量(拷贝数每 升)分别是 1. 07×107 L1和 7. 41×107 L-1, 两者之间感染率无显著差异(χ 2 =1.
doaj
Shanghai plan for early screening, diagnosis and treatment of colorectal cancer (2023 edition) [PDF]
Colorectal cancer is a common malignant tumor in China. At present, the incidence rate and the mortality rate of colorectal cancer in China are on the rise.
Colorectal Cancer Special Committee of Shanghai Anti-Cancer Association
core +1 more source
SNP基因芯片结合多重置换扩增技术检测单细胞 非整倍体的研究
Zhongshan Daxue xuebao. Yixue kexue ban, 2009 【目的】 建立并优化利用微阵列-比较基因组杂交技术检测单细胞非整倍体的实验方案65377; 【方法】 纤维母细胞系GM02732(47, XY, +18)和GM00343[46, XY, 4(del) (qter > p14)]被用于实验65377;阳性对照组为上述细胞系的基因组DNA(gDNA)(A组与B组,n = 6);实验组为单细胞模板的多重置换扩增(MDA)产物(C组与D组,n = 10);阴性对照组为空白对照的MDA产物(E组,n = 6)65377;以上样本与10 k 2 ...
doaj
Deciphering odontogenic myxoma: the role of copy number variations as diagnostic signatures. [PDF]
J Zhejiang Univ Sci BZhang A +8 more
europepmc +1 more source
[Research progress on copy number alterations in pediatric B-cell acute lymphoblastic leukemia]. [PDF]
Zhongguo Dang Dai Er Ke Za ZhiXu XY, Hu Q.
europepmc +1 more source
[Clinical observation of posttransplant lymphoproliferative disorder in a single center]. [PDF]
Zhonghua Xue Ye Xue Za ZhiQiao ZQ +12 more
europepmc +1 more source
[CAR-T cell therapy bridging to allogeneic hematopoietic stem cell transplantation for diffuse large B-cell Richter syndrome: a case report and literature review]. [PDF]
Zhonghua Xue Ye Xue Za ZhiWang Y +5 more
europepmc +1 more source
[Cardiofaciocutaneous syndrome caused by microdeletion of chromosome 19p13.3: a case report and literature review]. [PDF]
Zhongguo Dang Dai Er Ke Za ZhiLi CY +7 more
europepmc +1 more source
[Clinical characteristics, treatment, and prognosis of double-hit multiple myeloma with concurrent 1q21+ and t (4;14)]. [PDF]
Zhonghua Xue Ye Xue Za ZhiGuo Y +8 more
europepmc +1 more source