Zobrazeno 1 - 10
of 152
pro vyhledávání: '"Deciphering Disorders Involving Scoliosis"'
Autor:
XU Kexin, LI Guozhuang, LI Qing, YIN Xiangjie, FANG Kun, WU Zhihong, ZHANG Jianguo, DISCO (Deciphering Disorders Involving Scoliosis ＆ COmorbidities) Study Group, WU Nan
Publikováno v:
罕见病研究, Vol 3, Iss 3, Pp 295-303 (2024)
The Ehlers-Danlos syndromes (EDS) are a group of rare hereditary connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. The clinical and genetic hetero- geneity of EDS frequently leads to unde
Externí odkaz:
https://doaj.org/article/db6025bccc7742379bb0fdaab73a2b71
Autor:
Sen Zhao, Hengqiang Zhao, Lina Zhao, Xi Cheng, Zhifa Zheng, Mengfan Wu, Wen Wen, Shengru Wang, Zixiang Zhou, Haibo Xie, Dengfeng Ruan, Qing Li, Xinquan Liu, Chengzhu Ou, Guozhuang Li, Zhengye Zhao, Guilin Chen, Yuchen Niu, Xiangjie Yin, Yuhong Hu, Xiaochen Zhang, Deciphering disorders Involving Scoliosis and COmorbidities (DISCO) study, Pengfei Liu, Guixing Qiu, Wanlu Liu, Chengtian Zhao, Zhihong Wu, Jianguo Zhang, Nan Wu
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-9 (2024)
Abstract Congenital vertebral malformation, affecting 0.13–0.50 per 1000 live births, has an immense locus heterogeneity and complex genetic architecture. In this study, we analyze exome/genome sequencing data from 873 probands with congenital vert
Externí odkaz:
https://doaj.org/article/5d2439648d9a4a0c8a930156c25c0a91
Autor:
XU Kexin, LI Guozhuang, WU Zhihong, DISCO (Deciphering Disorders Involving Scoliosis & COmorbidities) Study Group, ZHANG Jianguo, WU Nan
Publikováno v:
罕见病研究, Vol 2, Iss 4, Pp 633-640 (2023)
Joint hypermobility (JH) refers to the ability of joints to move beyond the 'normal' limits, which can be either physiologic or pathologic. Hypermobility spectrum disorders (HSDs) are a group of joint hypermobility-related clinical conditions. HSDs p
Externí odkaz:
https://doaj.org/article/fd695b79149147a194738e68b9ba6273
Autor:
Defu Lin, Huakang Du, Sen Zhao, Bowen Liu, Hongcheng Song, Guannan Wang, Weiping Zhang, Haiyan Liang, Pei Liu, Chao Liu, Wenwen Han, Zhenwu Li, Yang Yang, Shuofan Chen, Lina Zhao, Xiaoxin Li, Zhihong Wu, DISCO (Deciphering Disorders Involving Scoliosis & COmorbidities) study group, Ning Sun, Nan Wu
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background Hypospadias is a congenital anomaly of the male urogenital system. Genetics factors play an important role in its pathogenesis. To search for potential causal genes/variants for hypospadias, we performed exome sequencing in a pedi
Externí odkaz:
https://doaj.org/article/86f7eff09721442fa00d962aad5f197e
Autor:
Lian Liu, Liying Sun, Yujun Chen, Muchuan Wang, Chenxi Yu, Yingzhao Huang, Sen Zhao, Huakang Du, Shaoke Chen, Xin Fan, Wen Tian, Zhihong Wu, Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study group, Guixing Qiu, Terry Jianguo Zhang, Nan Wu
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)
Abstract Background Skeletal deformity is characterized by an abnormal anatomical structure of bone and cartilage. In our previous studies, we have found that a substantial proportion of patients with skeletal deformity could be explained by monogeni
Externí odkaz:
https://doaj.org/article/10847cd3fdaa467197acb54b9ee82b40
Autor:
Sen Zhao, Yuanqiang Zhang, Sigrun Hallgrimsdottir, Yuzhi Zuo, Xiaoxin Li, Dominyka Batkovskyte, Sen Liu, Hillevi Lindelöf, Shengru Wang, Anna Hammarsjö, Yang Yang, Yongyu Ye, Lianlei Wang, Zihui Yan, Jiachen Lin, Chenxi Yu, Zefu Chen, Yuchen Niu, Huizi Wang, Zhi Zhao, Pengfei Liu, Guixing Qiu, Jennifer E. Posey, Zhihong Wu, James R. Lupski, Ieva Micule, Britt-Marie Anderlid, Ulrika Voss, Dennis Sulander, Ekaterina Kuchinskaya, Ann Nordgren, Ola Nilsson, Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Terry Jianguo Zhang, Giedre Grigelioniene, Nan Wu
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-11 (2022)
Abstract Pathogenic variants in MYH3 cause distal arthrogryposis type 2A and type 2B3 as well as contractures, pterygia and spondylocarpotarsal fusion syndromes types 1A and 1B. These disorders are ultra-rare and their natural course and phenotypic v
Externí odkaz:
https://doaj.org/article/0de9e51627714482a09108f93d1360a8
Akademický článek
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Autor:
Zefu Chen, Zihui Yan, Chenxi Yu, Jiaqi Liu, Yanbin Zhang, Sen Zhao, Jiachen Lin, Yuanqiang Zhang, Lianlei Wang, Mao Lin, Yingzhao Huang, Xiaoxin Li, Yuchen Niu, Shengru Wang, Zhihong Wu, DISCO (Deciphering disorders Involving Scoliosis and COmorbidities) study group, Guixing Qiu, Terry Jianguo Zhang, Nan Wu
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Abstract Background We previously reported a novel clinically distinguishable subtype of congenital scoliosis (CS), namely, TBX6-associated congenital scoliosis (TACS). We further developed the TBX6-associated CS risk score (TACScore), a multivariate
Externí odkaz:
https://doaj.org/article/0855793f02cf4a4ca530dbca6ded8948
Autor:
Xu K; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Key Laboratory of Big Data for spinal Deformities, Chinese Academy of Medical Sciences, Beijing, China., Li G; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Key Laboratory of Big Data for spinal Deformities, Chinese Academy of Medical Sciences, Beijing, China., Niu Y; Clinical Biobank, Medical Research Center, National Science and Technology Key Infrastructure on Translational Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China., Wu Z; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Key Laboratory of Big Data for spinal Deformities, Chinese Academy of Medical Sciences, Beijing, China.; Medical Research Center, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.; State Key Laboratory of Complex, Severe, and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China., Zhang TJ; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Key Laboratory of Big Data for spinal Deformities, Chinese Academy of Medical Sciences, Beijing, China.; State Key Laboratory of Complex, Severe, and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China., Zhang S; State Key Laboratory of Complex, Severe, and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.; Department of Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Science, Beijing, China., Wu N; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Key Laboratory of Big Data for spinal Deformities, Chinese Academy of Medical Sciences, Beijing, China.; State Key Laboratory of Complex, Severe, and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Nov; Vol. 194 (11), pp. e63801. Date of Electronic Publication: 2024 Jul 03.
Autor:
Nan Wu, Jiashen Shao, Zhen Zhang, Shengru Wang, Ziquan Li, Sen Zhao, Yang Yang, Lian Liu, Chenxi Yu, Sen Liu, Zhengye Zhao, You Du, Yuanqiang Zhang, Lianlei Wang, Yu Zhao, Keyi Yu, Hong Zhao, Jianxiong Shen, Guixing Qiu, Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Zhihong Wu, Terry Jianguo Zhang
Publikováno v:
BMC Musculoskeletal Disorders, Vol 22, Iss 1, Pp 1-9 (2021)
Abstract Introduction Adult non-degenerative scoliosis accounts for 90% of spinal deformities in young adults. However, perioperative complications and related risk factors of long posterior instrumentation and fusion for the treatment of adult non-d
Externí odkaz:
https://doaj.org/article/f7848b01de9e4d2a96573bdb768135f3