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中国医学科学院 北... [23]
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期刊论文 [35]
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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:64/0
  |  
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
收藏
  |  
浏览/下载:48/0
  |  
提交时间:2019/12/13
16p11.2/TBX6
compound
inheritance
model
congenital
scoliosis
(CS)
gene
dosage
genotype-phenotype
correlation
A Recurrent Rare SOX9 Variant (M469V) is Associated with Congenital Vertebral Malformations
期刊论文
2019
作者:
Wu Nan
;
Wang Lianlei
;
Hu Jianhua
;
Zhao Sen
;
Liu Bowen
收藏
  |  
浏览/下载:12/0
  |  
提交时间:2020/01/03
Acampomelic campomelic dysplasia
Campomelic dysplasia
Congenital scoliosis
Congenital vertebral malformations
Exome sequencing
SOX9 gene
Predictors for blood loss in pediatric patients younger than 10years old undergoing primary posterior hemivertebra resection: a retrospective study
期刊论文
2019, 卷号: 20, 期号: 1, 页码: 297
作者:
Ma, Lulu
;
Zhang, Jianguo
;
Shen, Jianxiong
;
Zhao, Yu
;
Li, Shugang
收藏
  |  
浏览/下载:2/0
  |  
提交时间:2020/01/03
Congenital scoliosis
Hemivertebra resection
Blood loss
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:34/0
  |  
提交时间:2020/01/03
congenital scoliosis (CS)
16p11.2/TBX6
compound inheritance model
genotype-phenotype correlation
gene dosage
MicroRNA signature of air pollution exposure-induced congenital defects
期刊论文
2019, 卷号: 234, 期号: 10, 页码: 17896-17904
作者:
Li, Zheng
;
Ma, Jianqing
;
Bi, Jiaqi
;
Guo, Haiwei
;
Chan, Matthew T., V
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2020/01/03
air pollution
congenital defects
congenital scoliosis
microRNAs
The efficacy of posterior hemivertebra resection with lumbosacral fixation and fusion in the treatment of congenital scoliosis: A more than 2-year follow-up study
期刊论文
Clin Neurol Neurosurg, 2018, 卷号: Vol.164, 页码: 154-159
作者:
Qiunan Lyu
;
Bowen Hu
;
Chunguang Zhou
;
Limin Liu
;
Yueming Song
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2019/02/25
Hemivertebra resection
Lumbosacral fixation
Congenital scoliosis
Instrument failures
Posterior approach
Lumbosacral fusion
POSTERIOR HEMIVERTEBRA RESECTION IN COMBINATION WITH SCREW ROD INTERNAL FIXATION IN THE TREATMENT OF PEDIATRIC CONGENITAL SCOLIOSIS
期刊论文
JOURNAL OF BIOLOGICAL REGULATORS AND HOMEOSTATIC AGENTS, 2018, 卷号: 32, 期号: 2, 页码: 345-349
作者:
Tian, Y. L.
;
Geng, J.
;
Wang, F.
;
Zheng, Y. P.
收藏
  |  
浏览/下载:5/0
  |  
提交时间:2019/12/11
congenital scoliosis
posterior hemivertebra resection
screw rod
internal fixation
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