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期刊论文 [59]
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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:63/0
  |  
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:46/0
  |  
提交时间:2019/12/13
16p11.2/TBX6
compound
inheritance
model
congenital
scoliosis
(CS)
gene
dosage
genotype-phenotype
correlation
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, 2019
作者:
Jiaqi Liu
;
Nan Wu
;
Deciphering Disorders Involving Scoliosis and COmorbidities study, Nan Yang
;
Kazuki Takeda
;
Weisheng Chen
收藏
  |  
浏览/下载:39/0
  |  
提交时间:2019/12/13
Cardiopulmonary Function in Patients with Congenital Scoliosis An Observational Study
期刊论文
2019, 卷号: 101, 期号: 12, 页码: 1109-1118
作者:
Lin, Youxi
;
Shen, Jianxiong
;
Chen, Lixia
;
Yuan, Wangshu
;
Cong, Hui
收藏
  |  
浏览/下载:12/0
  |  
提交时间:2020/01/03
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
Impact of Thoracic Cage Dimension and Geometry on Cardiopulmonary Function in Patients With Congenital Scoliosis: A Prospective Study
期刊论文
2019, 卷号: 44, 期号: 20, 页码: 1441-1448
作者:
Lin Youxi
;
Tan Haining
;
Rong Tianhua
;
Chen Chong
;
Shen Jianxiong
收藏
  |  
浏览/下载:9/0
  |  
提交时间:2020/01/03
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:33/0
  |  
提交时间:2020/01/03
congenital scoliosis (CS)
16p11.2/TBX6
compound inheritance model
genotype-phenotype correlation
gene dosage
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