Zobrazeno 1 - 10
of 124
pro vyhledávání: '"Shaoke, Chen"'
Autor:
Yunting Ma, Chunrong Gui, Meizhen Shi, Lilin Wei, Junfang He, Bobo Xie, Haiyang Zheng, Xiaoyun Lei, Xianda Wei, Zifeng Cheng, Xu Zhou, Shaoke Chen, Jiefeng Luo, Yan Huang, Baoheng Gui
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-14 (2024)
Abstract Background Deletion or duplication in the DMD gene is one of the most common causes of Duchenne and Becker muscular dystrophy (DMD/BMD). However, the pathogenicity of complex rearrangements involving DMD, especially segmental duplications wi
Externí odkaz:
https://doaj.org/article/53bdbb49b04c40d1bcdc0a8e3facd515
Autor:
Wei Wu, JingNan Chen, MinJia Mo, Shuting Si, Ke Huang, RuiMin Chen, Mireguli Maimaiti, ShaoKe Chen, Chunxiu Gong, Min Zhu, ChunLin Wang, Zhe Su, Yan Liang, Hui Yao, HaiYan Wei, RongXiu Zheng, HongWei Du, Yu Yang, FeiHong Luo, Pin Li, LanWei Cui, GuanPing Dong, YunXian Yu, Junfen Fu
Publikováno v:
BMC Public Health, Vol 22, Iss 1, Pp 1-6 (2022)
Abstract Background Growth chart is a valuable clinical tool to monitor the growth and nutritional status of children. A growth chart widely used in China is based on the merged data sets of national surveys in 2005. We aimed to establish an up-to-da
Externí odkaz:
https://doaj.org/article/9121e8b15e4943309702ca06f6b3aea8
Autor:
Jiajia Chen, Yan Zhong, Haiyan Wei, Shaoke Chen, Zhe Su, Lijun Liu, Liyang Liang, Ping Lu, Linqi Chen, Ruimin Chen, Shining Ni, Xinli Wang, Li Li, Yunfeng Wang, Xu Xu, Yanfeng Xiao, Hui Yao, Geli Liu, Runming Jin, Bingyan Cao, Di Wu, Chang Su, Wenjing Li, Miao Qin, Xiaoqiao Li, Xiaoping Luo, Chunxiu Gong
Publikováno v:
BMC Endocrine Disorders, Vol 22, Iss 1, Pp 1-9 (2022)
Abstract Background To evaluate the effectiveness of individualized-dose polyethylene glycol recombinant human growth hormone (PEG-rhGH) for short stature. Methods This real-world study enrolled children with short stature in 19 hospitals throughout
Externí odkaz:
https://doaj.org/article/e21f1dd43e6f4452bf5b9971278bf12c
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:
Meizhen Shi, Yuying Liang, Bobo Xie, Xianda Wei, Haiyang Zheng, Chunrong Gui, Rong Huang, Xin Fan, Chuan Li, Xiaojiao Wei, Yunting Ma, Shaoke Chen, Yujun Chen, Baoheng Gui
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Cornelia de Lange syndrome (CdLS) is an autosomal dominant or X-linked genetic disease with significant genetic heterogeneity. Variants of the NIPBL gene are responsible for CdLS in 60% of patients. Herein, we report the case of a patient with CdLS s
Externí odkaz:
https://doaj.org/article/c2ab08a0952c4ec2be91a738b5d223d3
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 4, Pp n/a-n/a (2022)
Abstract Objective Craniosynostosis is the result of the early fusion of cranial sutures. Syndromic craniosynostosis includes but not limited by Crouzon syndrome and Pfeiffer syndrome. Considerable phenotypic overlap exists among these syndromes and
Externí odkaz:
https://doaj.org/article/c2e3dd137a3c4f6e9e1efe4857a35884
Autor:
Xuyun Hu, Di Wu, Yuchuan Li, Liya Wei, Xiaoqiao Li, Miao Qin, Hongdou Li, Mengting Li, Shaoke Chen, Chunxiu Gong, Yiping Shen
Publikováno v:
BMC Medical Genomics, Vol 13, Iss 1, Pp 1-8 (2020)
Abstract Background Wolf-Hirschhorn syndrome is a well-characterized genomic disorder caused by 4p16.3 deletions. Wolf-Hirschhorn syndrome patients exhibit characteristic facial dysmorphism, growth retardation, developmental delay, intellectual disab
Externí odkaz:
https://doaj.org/article/d4c661cb04684f588cc683af2eed8a34
Autor:
Chenxi Yu, Bobo Xie, Zhengye Zhao, Sen Zhao, Lian Liu, Xi Cheng, Xiaoxin Li, Bingyan Cao, Jiashen Shao, Jiajia Chen, Hengqiang Zhao, Zihui Yan, Chang Su, Yuchen Niu, Yanning Song, Liya Wei, Yi Wang, Xiaoya Ren, Lijun Fan, Beibei Zhang, Chuan Li, Baoheng Gui, Yuanqiang Zhang, Lianlei Wang, Shaoke Chen, Jianguo Zhang, Zhihong Wu, Chunxiu Gong, Xin Fan, Nan Wu
Publikováno v:
Frontiers in Endocrinology, Vol 12 (2021)
PurposeCongenital growth hormone deficiency (GHD) is a rare and etiologically heterogeneous disease. We aim to screen disease-causing mutations of GHD in a relatively sizable cohort and discover underlying mechanisms via a candidate gene-based mutati
Externí odkaz:
https://doaj.org/article/a76e8af7593342fb889a7a0b09459c4c
Autor:
Chong Lai, Yiyan Hu, Di He, Li Liang, Feng Xiong, Geli Liu, Chunxiu Gong, Feihong Luo, Shaoke Chen, Chunlin Wang, Yimin Zhu
Publikováno v:
BMC Pediatrics, Vol 19, Iss 1, Pp 1-11 (2019)
Abstract Background The relationship between birth weight and blood pressure has not been well explored in Chinese children and adolescents. The aim of this study was to investigate the relationship between birth weight and childhood blood pressure i
Externí odkaz:
https://doaj.org/article/c18455d6b721452681067d3535baab13
Autor:
Shujie Zhang, Shaoke Chen, Haisong Qin, Haiming Yuan, Yalei Pi, Yu Yang, Hui Huang, Guimei Li, Yan Sun, Zhihua Wang, Huamei Ma, Xiaoling Fu, Ting Zhou, Jian Wang, Huifeng Zhang, Yiping Shen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Abstract Background Floating-Harbor syndrome (FHS) is a rare syndromic short stature disorder caused by truncating variants in SRCAP. Few Chinese FHS patients had been reported so far and limited knowledge regarding the benefit of growth hormone trea
Externí odkaz:
https://doaj.org/article/a258923d24bd405ab6ae09444bf97208