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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.
Liu, Jiaqi; Wu, Nan; Yang, Nan; Takeda, Kazuki; Chen, Weisheng; Li, Weiyu; Du, Renqian; Liu, Sen; Zhou, Yangzhong; Zhang, Ling; Liu, Zhenlei; Zuo, Yuzhi; Zhao, Sen; Blank, Robert; Pehlivan, Davut; Dong, Shuangshuang; Zhang, Jianguo; Shen, Jianxiong; Si, Nuo; Wang, Yipeng; Liu, Gang; Li, Shugang; Zhao, Yanxue; Zhao, Hong; Chen, Yixin; Zhao, Yu; Song, Xiaofei; Hu, Jianhua; Lin, Mao; Tian, Ye; Yuan, Bo; Yu, Keyi; Niu, Yuchen; Yu, Bin; Li, Xiaoxin; Chen, Jia; Yan, Zihui; Zhu, Qiankun; Meng, Xiaolu; Chen, Xiaoli; Su, Jianzhong; Zhao, Xiuli; Wang, Xiaoyue; Ming, Yue; Li, Xiao; Raggio, Cathleen L; Zhang, Baozhong; Weng, Xisheng; Zhang, Shuyang; Zhang, Xue.
Afiliação
  • Liu J; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Wu N; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
  • Yang N; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China. dr.wunan@pumch.cn.
  • Takeda K; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China. dr.wunan@pumch.cn.
  • Chen W; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China. dr.wunan@pumch.cn.
  • Li W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. dr.wunan@pumch.cn.
  • Liu S; Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Metabolism and Integrative Biology, Fudan University, Shanghai, China.
  • Zhou Y; NHC Key Laboratory of Reproduction Regulation, Shanghai Institute of Planned Parenthood Research, Fudan University, Shanghai, China.
  • Zhang L; Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, China.
  • Liu Z; Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN, Tokyo, Japan.
  • Zuo Y; Department of Orthopedic Surgery, Keio University School of Medicine, Tokyo, Japan.
  • Zhao S; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Blank R; Graduate School of Peking Union Medical College, Beijing, China.
  • Pehlivan D; Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Metabolism and Integrative Biology, Fudan University, Shanghai, China.
  • Dong S; NHC Key Laboratory of Reproduction Regulation, Shanghai Institute of Planned Parenthood Research, Fudan University, Shanghai, China.
  • Zhang J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Shen J; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Si N; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
  • Wang Y; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China.
  • Liu G; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
  • Li S; Department of Internal Medicine, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Zhao Y; Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Metabolism and Integrative Biology, Fudan University, Shanghai, China.
  • Zhao H; NHC Key Laboratory of Reproduction Regulation, Shanghai Institute of Planned Parenthood Research, Fudan University, Shanghai, China.
  • Chen Y; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
  • Zhao Y; Department of Neurosurgery, Xuanwu Hospital, Capital Medical University, Beijing, China.
  • Song X; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Hu J; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
  • Lin M; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China.
  • Tian Y; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Yuan B; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
  • Yu K; Department of Medicine, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Niu Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Yu B; Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Metabolism and Integrative Biology, Fudan University, Shanghai, China.
  • Li X; NHC Key Laboratory of Reproduction Regulation, Shanghai Institute of Planned Parenthood Research, Fudan University, Shanghai, China.
  • Chen J; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Yan Z; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
  • Zhu Q; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China.
  • Meng X; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Chen X; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
  • Su J; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China.
  • Zhao X; The McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Wang X; The State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Ming Y; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Li X; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Raggio CL; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
  • Zhang B; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China.
  • Weng X; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Zhang S; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
  • Zhang X; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.
Genet Med ; 21(7): 1548-1558, 2019 07.
Article em En | MEDLINE | ID: mdl-30636772
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Escoliose / Dosagem de Genes / Proteínas com Domínio T / Padrões de Herança Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Escoliose / Dosagem de Genes / Proteínas com Domínio T / Padrões de Herança Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article