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科研机构
中国医学科学院 北... [13]
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期刊论文 [13]
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2019 [2]
2018 [4]
2017 [2]
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专题:中国医学科学院 北京协和医学院
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Genetic polymorphisms of PAX1 are functionally associated with different PUMC types of adolescent idiopathic scoliosis in a northern Chinese Han population
期刊论文
2019, 卷号: 688, 页码: 215-220
作者:
Liu, Gang
;
Liu, Sen
;
Li, Xiaoxin
;
Chen, Jia
;
Chen, Weisheng
收藏
  |  
浏览/下载:4/0
  |  
提交时间:2020/01/03
Adolescent idiopathic scoliosis (AIS)
PAX1
Northern Han Chinese
Single nucleotide polymorphism (SNP)
PUMC classification system
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:36/0
  |  
提交时间:2020/01/03
congenital scoliosis (CS)
16p11.2/TBX6
compound inheritance model
genotype-phenotype correlation
gene dosage
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease
期刊论文
2018, 卷号: 137, 期号: 6-7, 页码: 553-567
作者:
Liu, Jiaqi
;
Zhou, Yangzhong
;
Liu, Sen
;
Song, Xiaofei
;
Yang, Xin-Zhuang
收藏
  |  
浏览/下载:9/0
  |  
提交时间:2020/01/03
Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review
期刊论文
2018, 卷号: 46, 期号: 6, 页码: 2445-2457
作者:
Liu, Zhenlei
;
Liu, Jiaqi
;
Liu, Gang
;
Cao, Wenjian
;
Liu, Sen
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2020/01/03
Congenital insensitivity to pain with anhidrosis
genetics
intellectual disability
neurotrophic tyrosine receptor kinase 1
north Han Chinese
in silico analysis
Genetic polymorphisms of GPR126 are functionally associated with PUMC classifications of adolescent idiopathic scoliosis in a Northern Han population
期刊论文
2018, 卷号: 22, 期号: 3, 页码: 1964-1971
作者:
Liu, Gang
;
Liu, Sen
;
Lin, Mao
;
Li, Xiaoxin
;
Chen, Weisheng
收藏
  |  
浏览/下载:10/0
  |  
提交时间:2020/01/03
adolescent idiopathic scoliosis
GPR126/ADGRG6
single nucleotide polymorphism
PUMC classification
Comparative analysis of serum proteome in congenital scoliosis patients with TBX6 haploinsufficiency - a first report pointing to lipid metabolism
期刊论文
2018, 卷号: 22, 期号: 1, 页码: 533-545
作者:
Zhu, Qiankun
;
Wu, Nan
;
Liu, Gang
;
Zhou, Yangzhong
;
Liu, Sen
收藏
  |  
浏览/下载:12/0
  |  
提交时间:2020/01/03
congenital scoliosis
TBX6
proteomics
isobaric tagged relative and absolute quantification
lipid metabolism
Molecular therapeutic strategies for FGFR3 gene-related skeletal dysplasia
期刊论文
2017, 卷号: 95, 期号: 12, 页码: 1303-1313
作者:
Chen, Jia
;
Liu, Jiaqi
;
Zhou, Yangzhong
;
Liu, Sen
;
Liu, Gang
收藏
  |  
浏览/下载:6/0
  |  
提交时间:2020/01/03
Fibroblast growth factor receptor 3 (FGFR3)
Skeletal dysplasia
Signal transduction
Molecular therapy
Genetic Polymorphism of LBX1 Is Associated With Adolescent Idiopathic Scoliosis in Northern Chinese Han Population
期刊论文
2017, 卷号: 42, 期号: 15, 页码: 1125-1129
作者:
Liu Sen
;
Wu Nan
;
Zuo Yuzhi
;
Zhou Yangzhong
;
Liu Jiaqi
收藏
  |  
浏览/下载:32/0
  |  
提交时间:2020/01/04
adolescent idiopathic scoliosis
LBX1
single nucleotide polymorphism
Association between ADAMTS-4 gene polymorphism and lumbar disc degeneration in Chinese Han population
期刊论文
2016, 卷号: 34, 期号: 5, 页码: 860-864
作者:
Liu, Sen
;
Wu, Nan
;
Liu, Jiaqi
;
Liu, Hao
;
Su, Xinlin
收藏
  |  
浏览/下载:26/0
  |  
提交时间:2020/01/04
lumbar disc degeneration (LDD)
a disintegrin and metalloprotease with thrombospondin motifs-4 (ADAMTS-4)
single nucleotide polymorphism (SNP)
Progress and perspective of TBX6 gene in congenital vertebral malformations
期刊论文
2016, 卷号: 7, 期号: 35, 页码: 57430-57441
作者:
Chen, Weisheng
;
Liu, Jiaqi
;
Yuan, Dongtang
;
Zuo, Yuzhi
;
Liu, Zhenlei
收藏
  |  
浏览/下载:3/0
  |  
提交时间:2020/01/04
congenital vertebral malformation
TBX6
congenital scoliosis
somitogenesis
vertebrate segmentation
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