Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Xiuzhi Ren"'
Publikováno v:
Journal of Orthopaedic Surgery and Research, Vol 18, Iss 1, Pp 1-8 (2023)
Abstract Objective To investigate the patient-related factors that affect the revision rate for the tibia in patients with osteogenesis imperfecta treated with the Peter-Williams nail, and to explore the relationship between the risk factors and comp
Externí odkaz:
https://doaj.org/article/fdff4d37f1114fe2ba26d186bb2d0ce5
Autor:
Hongjiang Yang, Bo Li, Cong Xing, Shijie Gao, Wenbiao Zhu, Yang Xiong, Xiuzhi Ren, Guangzhi Ning
Publikováno v:
BMC Musculoskeletal Disorders, Vol 24, Iss 1, Pp 1-9 (2023)
Abstract Background Osteogenesis imperfecta (OI) is a hereditary genetic disorder characterized by bone fragility and extremity deformities. The surgical management for long-bone fractures and deformities in OI remains a challenge. We aimed to compar
Externí odkaz:
https://doaj.org/article/f8ec0ebe4a284413aa10282b08a4ef43
Autor:
Yixuan Cao, Yi You, Qiong Wang, Xiuzhi Ren, Shan Li, Lulu Li, Weibo Xia, Xin Guan, Tao Yang, Shiro Ikegawa, Zheng Wang, Xiuli Zhao
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-11 (2022)
Abstract Background Hypophosphatemic rickets (HR) is a rare genetic disorder associated with renal phosphate wasting and characterized by bone defects. Inactivating mutations in the phosphate regulating endopeptidase homolog X‑linked gene (PHEX) ac
Externí odkaz:
https://doaj.org/article/a67dc664922741228f6662d46e5d4fb4
Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta
Autor:
Shan Li, Yixuan Cao, Han Wang, Lulu Li, Xiuzhi Ren, Huan Mi, Yanzhou Wang, Yun Guan, Feiyue Zhao, Bin Mao, Tao Yang, Yi You, Xin Guan, Yujiao Yang, Xue Zhang, Xiuli Zhao
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Osteogenesis imperfecta (OI) is a rare heritable skeletal disorder which is mainly caused by defected type I collagen. Autosomal recessive OI (AR-OI) is caused by mutations of genes that are responsible for type I collagen modification and folding, a
Externí odkaz:
https://doaj.org/article/d3682e35ac7446f7aaa3bc4f382dd13e
Autor:
Lulu Li, Yixuan Cao, Feiyue Zhao, Bin Mao, Xiuzhi Ren, Yanzhou Wang, Yun Guan, Yi You, Shan Li, Tao Yang, Xiuli Zhao
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Osteogenesis Imperfecta (OI) is a rare inherited bone dysplasia, which is mainly caused by mutations in genes encoding type I collagen including COL1A1 and COL1A2. It has been well established to identify the classical variants as well as consensus s
Externí odkaz:
https://doaj.org/article/1c150d65762a4cf283e82c2cf413d861
Autor:
Shuang Li, Xiuzhi Ren, Yun Guan, Feiyue Zhao, Yixuan Cao, Xingzhu Geng, Yanzhou Wang, Nan Wu, Lingqian Wu, Xiuli Zhao
Publikováno v:
PAIN; Sep2024, Vol. 165 Issue 9, p1926-1943, 18p
Autor:
Yixuan Cao, Lulu Li, Xiuzhi Ren, Bin Mao, Yujiao Yang, Huan Mi, Yun Guan, Shan Li, Siji Zhou, Xin Guan, Tao Yang, Xiuli Zhao
Publikováno v:
Journal of Bone and Mineral Research. 38:719-732
Incidence and prevalence of 121 rare diseases in China: Current status and challenges: 2022 revision
Publikováno v:
Intractable Rare Dis Res
The current study updated data on the incidence and prevalence of 121 rare diseases listed in China's First List of Rare Diseases to provide rationales and references for the development and promotion of rare-disease-related policies. The National He
Publikováno v:
Intractable Rare Dis Res
This review categorizes and summarizes the rare pediatric diseases that have been included in the First List of Rare Diseases that was jointly published by the National Health Commission and four other government departments in China in 2018. In tota
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9388f76bb638f509fa56dff0ec42e3be
https://europepmc.org/articles/PMC8630464/
https://europepmc.org/articles/PMC8630464/
Autor:
Tianke Zhang, Li Yang, Xiaoli Chang, Guang Li, Yi Wang, Huaiyu Zhou, Keqiu Li, Mingyan Ju, Xiuzhi Ren, Xue Bai, Yunshou Lin, Shizhen Guan
Publikováno v:
Journal of Bone and Mineral Metabolism. 38:188-197
High-resolution melting (HRM) analysis has been shown to be a time-saving method for the screening of genetic variants. To increase the precision of the diagnosis of osteogenesis imperfecta (OI), we used HRM to explore COL1A1/COL1A2 mutations in 87 C