CAUSES

作品数：1081被引量：2597H指数：20
导出分析报告
相关作者：陶建陈宝雄沈振西张宪洲石培礼更多>>
相关机构：华中师范大学山东大学重庆医科大学复旦大学更多>>
相关期刊：更多>>
相关基金：国家自然科学基金国家重点基础研究发展计划中国博士后科学基金高等学校学科创新引智计划更多>>
-
在结果中检索

检索结果分析

结果分析中...
选择条件：
  • 期刊=Chinese Medical Journalx
共 条 记 录，以下是1-10
全选清除导出
参考文献引证文献引用追踪
视图：
排序：
A novel splicing variant in the TMC1 gene causes non-syndromic hearing loss in a Chinese family
《Chinese Medical Journal》2022年第21期2631-2633,共3页Beiping Zeng Hongen Xu Yongan Tian Qianyu Lin Haifeng Feng Zhifeng Zhang Siqi Li Wenxue Tang 
Collaborative Innovation Project of Zhengzhou (Zhengzhou University)(No. 18XTZX12004)
To the Editor:Hearing loss is the most common sensory disorder in humans.There is one case of congenital deafness among every 1000 newborns,and in 50%of cases,the deafness is hereditary.Deafness exhibits high genetic ...
关键词：DEAFNESS CONGENITAL HEARING 
Over-correction of curvature causes the non-surgical curvature loss in one- and two-level anterior cervical discectomy and fusion
《Chinese Medical Journal》2022年第13期1634-1636,共3页Yingjun Guo Hao Liu Yang Meng Chen Ding Ying Hong Beiyu Wang 
funded by the Technological Innovation Research and Development Projects,Chengdu Science and Technology Bureau,Chengdu,Sichuan(No.2019-YF05-00464-SN,Liu Hao).
To the Editor:Cervical disc degenerative disease(CDDD)is a common clinical spinal disease,which has a great impact on the quality of life of middle-aged and elderly patients.[1,2]Although it is challenged by advanced ...
关键词：CERVICAL SURGICAL CURVATURE 
Causes and trend of maternal death in a local obstetric unit in Hong Kong
《Chinese Medical Journal》2022年第9期1117-1119,共3页Sau Lan Mok Tsz KinLo 
To the Editor: Hong Kong is a place with a high standard of medical and obstetrical cares. One of the major indicators of health care standard is the rate of maternal death. Over the past few decades, the maternal mor...
关键词：MORTALITY DEATH INCOME 
Alterations in the oral microbiome in HIV infection:causes,effects and potential interventions被引量：2
《Chinese Medical Journal》2021年第23期2788-2798,共11页Shuang Li Bin Su Qiu-Shui He Hao Wu Tong Zhang 
the National Natural Science Foundation of China(Nos.82072271,81772165,and 81974303);the National 13th Five-Year Grand Program on Key Infectious Disease Control(Nos.2017ZX10202101-004-001,2017ZX10202102-005-003);the NSFC-NIH Biomedical collaborative research program(No.81761128001);the Beijing Key Laboratory for HIV/AIDS Research(No.BZ0089)。
A massive depletion of CD4+T lymphocytes has been described in early and acute human immunodeficiency virus(HIV)infection,leading to an imbalance between the human microbiome and immune responses.In recent years,a gro...
关键词：HIV Oral microbiome Antiretroviral therapy PROBIOTICS INTERVENTION 
A novel start codon variant in SMCHD1 from a Chinese family causes facioscapulohumeral muscular dystrophy type 2
《Chinese Medical Journal》2021年第22期2753-2755,共3页Liang-Liang Qiu Xiao-Dan Lin Guo-Rong Xu Li-Li Wang Zhi-Xian Ye Feng Lin Hai-Zhu Chen Min-Ting Lin Nai-Qing Cai Ming Jin Liu-Qing Xu Wei Hu Ning Wang Zhi-Qiang Wang 
the National Natural Science Foundation of China(Nos.81671237,81974193).
To the Editor:Facioscapulohumeral muscular dystrophy type 2(FSHD2)is an epigenetic myopathy caused by variants in genes encoding chromatin regulators,such as SMCHD1:these variants lead to derepression of the D4Z4-enco...
关键词：DYSTROPHY MUSCULAR YOUNGER 
A novel POU domain class 3 transcription factor 4 mutation causes X-linked non-syndromic hearing loss in a Chinese family被引量：1
《Chinese Medical Journal》2019年第18期2251-2253,共3页Hong-Min Wu Hui-Qun Jie Hui Wang Ya-Qin Wu Zheng-Nong Chen Ya-Zhi Xing Ji-Ping Wang Hai-Bo Shi Shan-Kai Yin 
This work was supported by the grants &om the State Key Program of National Natural Science Foundation of China (No.81530029);the International Cooperation and Exchange of the National Natural Science Foundation of China (No.8171001156);the National Natural Science Foundation of China (No.81771007);the National Natural Science Foundation of the State Youth Fund (No.81800919).
To the Editor: POU domain class 3 transcription factor 4 or BRN-4 (POU3F4) is a causative gene of non-syndromic X-linked hearing loss (HL), which is characterized by inner ear anomalies. To date, six X-linked non-synd...
关键词：HEARING loss phosphoribosyl PYROPHOSPHATE MUSCLE protein 
Causes of Severe Visual Impairment and Blindness in Schools for the Blind被引量：2
《Chinese Medical Journal》2018年第19期2354-2356,共3页Hui-Yi Jin Jiang-Nan He Jian-Feng Zhu Shan-Shan Li Li-Na Lu Xian-Gui He Hong-Mei Xu Xun-Jie Chen Hai-Dong Zou 
This study was supported by grants from Shanghai Health and Family Planning Commission Youth Project （No. 20144Y0210） and the National Natural Science Foundation of China （No. 81400388）.
To the Editor： Reduced vision impacts not only the individual but also the family, community, and public health. It leads to a significant economic burden, including increased education cost, reduced personal income,...
A Novel Mutation of Mitochondrial T14709C Causes Myoclonic Epilepsy with Ragged Red Fibers Syndrome in a Chinese Patient被引量：2
《Chinese Medical Journal》2018年第13期1569-1574,共6页Rui Ban Jun-Hong Guo Chuan-Qiang Pu Qiang Shi Hua-Xu Liu Yu-Tong Zhang 
This work was supported by a grant of the National Natural Science Foundation of China （No. 81771358）.
Background： Myoclonic epilepsy with ragged red fibers （MERRF） syndrome is characterized by myoclonus, generalized epilepsy, cerebellar ataxia, and ragged red fibers （RRFs） in the muscle. T-to-C transition at nucl...
关键词：m.TI4709C Myoclonic Epilepsy with Ragged Red Fibers Syndrome： Novel Mutation 
A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease被引量：2
《Chinese Medical Journal》2017年第15期1779-1784,共6页Li-Xi Li Hai-Lin Dong Bao-Guo Xiao Zhi-Ying Wu 
This study was supported by the grants from the National Natural Science Foundation of China （No. 81125009）, and the research foundation for distinguished scholar of Zhejiang University （No. 188020-193810101/089）.
Background：Charcot-Marie-Tooth disease （CMT） is the most common inherited peripheral neuropathy.A great number of causative genes have been described in CMT,and among them,the heterozygous duplication of peripheral...
关键词：APOPTOSIS Charcot-Marie-Tooth Disease Endoplasmic Reticulum Missense Mutation Peripheral Myelin Protein-22 
Compound Heterozygote Mutation of C12orf65 Causes Distal Motor Neuropathy and Optic Atrophy被引量：3
《Chinese Medical Journal》2017年第2期242-244,共3页Xiao-Jing Fang Wei Zhang He Lyu Zhao-Xia Wang Wei-Wei Wang Yun Yuan 
This study was supported by a grant of the National Natural Science Foundation of China （No. 81471185）.Acknowledgments We thank the patient and her family for their participation in this study. We also thank the MyGenome Institute for their kind administrative assistance.
The C12orf65 gene is a nuclear gene that encodes a mitochondrial matrix protein contributing to mitochondrial translation. C12orf65 gene-related diseases are rare and present with large heterophenotypes. Most of the r...
关键词：C12orf65 Protein Inherited Peripheral Neuropathy Optic Atrophy 
全选清除导出
共3页<123>
检索报告 对象比较 聚类工具 使用帮助 返回顶部