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浏览/检索结果: 共6条，第1-6条 帮助 已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择发表日期升序发表日期降序提交时间升序提交时间降序题名升序题名降序作者升序作者降序 TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model 期刊论文 GENETICS IN MEDICINE, 2019, 卷号: 21, 期号: 7 作者:  Liu, Jiaqi;  Wu, Nan;  Yang, Nan;  Takeda, Kazuki;  Chen, Weisheng 收藏  |  浏览/下载：61/0  |  提交时间：2019/12/05 congenital scoliosis (CS)  16p11.2/TBX6  compound inheritance model  genotype-phenotype correlation  gene dosage   TBX6-associated congenital scoliosis as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model. 期刊论文 Genetics in medicine : official journal of the American College of Medical Genetics, 2019 作者:  Jiaqi Liu;  Nan Wu;  Nan Yang;  Kazuki Takeda;  Weisheng Chen 收藏  |  浏览/下载：45/0  |  提交时间：2019/12/13 16p11.2/TBX6  compound  inheritance  model  congenital  scoliosis  (CS)  gene  dosage  genotype-phenotype  correlation   TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease 期刊论文 2019 作者:  Chen Weisheng;  Lin Jiachen;  Wang Lianlei;  Li Xiaoxin;  Zhao Sen 收藏  |  浏览/下载：32/0  |  提交时间：2020/01/03 TBX6 gene  compound inheritance model  congenital scoliosis (CS)  gene dosage  genotype-phenotype correlation   LncRNA-SULT1C2A regulates Foxo4 in congenital scoliosis by targeting rno-miR-466c-5p through PI3K-ATK signalling 期刊论文 2019, 卷号: 23, 期号: 7, 页码: 4582-4591 作者:  Chen, Chong;  Tan, Haining;  Bi, Jiaqi;  Li, Lin;  Rong, Tianhua 收藏  |  浏览/下载：7/0  |  提交时间：2020/01/03 congenital scoliosis (CS)  Foxo4  PI3K-AKT  rno-miR-466c-5p  somitogenesis  SULT1C2A   TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model 期刊论文 2019, 卷号: 21, 期号: 7, 页码: 1548-1558 作者:  Liu, Jiaqi;  Wu, Nan;  Yang, Nan;  Takeda, Kazuki;  Chen, Weisheng 收藏  |  浏览/下载：33/0  |  提交时间：2020/01/03 congenital scoliosis (CS)  16p11.2/TBX6  compound inheritance model  genotype-phenotype correlation  gene dosage   Identification of Competing Endogenous RNA Regulatory Networks in Vitamin A Deficiency-Induced Congenital Scoliosis by Transcriptome Sequencing Analysis 期刊论文 2018, 卷号: 48, 期号: 5, 页码: 2134-2146 作者:  Chen, Chong;  Tan, Haining;  Bi, Jiaqi;  Li, Zheng;  Rong, Tianhua 收藏  |  浏览/下载：10/0  |  提交时间：2020/01/03 Congenital scoliosis (CS)  Competing endogenous RNA (ceRNA)  Sequencing  Vitamin A deficiency  Bioinformatics analysis