[Clinical and genetic analysis of a Chinese pedigree affected with Dyggve-Melchior-Clausen syndrome due to a novel frameshift variant of DYM gene] [0.03%]
DYM基因新移码突变所致Dyggve-Melchior-Clausen综合征家系的临床及遗传学分析
Lele Kuang,Rui Peng,Bin Liu et al.
Lele Kuang et al.
Objective: To explore the genetic basis of a Chinese pedigree affected with Dyggve-Melchior-Clausen syndrome. Methods: Whole exome sequ...
[Application of CNV-seq and chromosomal karyotyping in the prenatal diagnosis for carriers of balanced translocations] [0.03%]
CNV-seq和核型分析在平衡易位携带者产前诊断中应用价值的研究
Suzhen Qu,Panlai Shi,Tianyuan Zhang et al.
Suzhen Qu et al.
Objective: To assess the value of copy number variation sequencing (CNV-seq) and karyotyping in the prenatal diagnosis for carriers of balanced translocations. ...
Xing Wang,Xiaohong Sun,Shengju Hao et al.
Xing Wang et al.
Objective: To carry out genetic analysis for 21 patients with methylmalonic acidemia (MMA) and provide genetic counseling for their families. Methods: ...
[Analysis of clinical phenotypes and ATP7B gene variants in 75 children patients with Wilson' s disease] [0.03%]
75例威尔逊病患儿临床表型及ATP7B基因变异分析
Pan Liu,Fengyu Che,Chang Shu et al.
Pan Liu et al.
Objective: To analyze the clinical phenotypes and ATP7B gene variants among children patients with Wilson' s disease from Northwestern China. Methods: ...
Linwei Yin,Jing Guan,Qiuju Wang
Linwei Yin
As a male-specific chromosome, the structure of Y chromosome is complex and lacks of recombination, with numerous repeating, amplifying and palindromic sequences. The research of Y chromosome is difficult and slow since there are few protei...
[Advance in research on pathogenetic genes for amyotrophic lateral sclerosis] [0.03%]
肌萎缩性侧索硬化症致病基因研究进展
Huihui Zhao,Qi Niu
Huihui Zhao
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease which is associated with genetic and environmental factors, though the pathogenesis is still unclear and there is also a lack of effective treatment. With the rapid ad...
[Analysis of loss of heterozygosity at HLA loci in a patient with leukemia] [0.03%]
白血病患者HLA位点杂合性丢失分析
Wei Wang,Fang Wang,Lina Dong et al.
Wei Wang et al.
Objective: To detect loss of heterozygosity (LOH) at human leukocyte antigen (HLA) loci in a Chinese patient with leukemia after haploidentical hematopoietic stem cell transplantation. ...
[Prenatal diagnosis and genetic counselling for a pedigree carrying a large fragment deletion of 13q] [0.03%]
13q大片段缺失家系的产前诊断及遗传咨询
Qinghua Wu,Xin Chen,Saisai Yang et al.
Qinghua Wu et al.
Objective: To carry out prenatal diagnosis for a fetus with normal ultrasonographic finding at 20 weeks' gestation but a copy number variant(CNV) of 13q indicated by non-invasive prenatal test (NIPT). ...
[Identification of a novel germline BRCA2 variant in a male with breast cancer] [0.03%]
中国人BRCA2基因新的 germline变异导致男性乳腺癌病例报告
Feng Zhang,Ke Wu
Feng Zhang
Objective: To explore the genetic basis for a male with breast cancer and a sister who had deceased of the disease. Methods: Medical an...
[A child with diffuse mesangial sclerosis caused by a missense mutation of TRPC6 gene] [0.03%]
TRPC6基因错义突变所致弥漫性系膜硬化症一例
Ke Xu,Meina Yin,Huijie Xiao et al.
Ke Xu et al.
Objective: To explore the genetic etiology and clinical outcome of a child with steroid-resistant nephrotic syndrome and diffuse mesangial sclerosis. Meth...