Human Genome Epidemiology Literature Finder
Records 1 - 12 (of 12 Records) |
Query Trace: SLC20A2[original query] |
---|
Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification. Gene 2013 Oct 529 (1): 159-62. Chen Wan-Jin, Yao Xiang-Ping, Zhang Qi-Jie, Ni Wang, He Jin, Li Hong-Fu, Liu Xin-Yi, Zhao Gui-Xian, Murong Shen-Xing, Wang Ning, Wu Zhi-Yi |
Mutation screening of PDGFB gene in Chinese population with primary familial brain calcification. Gene 2016 Oct . Yao Xiang-Ping, Wang Chong-, Su Hui-Zhen, Guo Xin-Xin, Lu Ying-Qian, Zhao Miao, Liu Yao-Bin, Lai Jing-Hui, Chen Hai-Ting, Wang Ning, Chen Wan-J |
Novel mutations of PDGFRB cause primary familial brain calcification in Chinese families. Journal of human genetics 2017 Mar . Wang Chong, Yao Xiang-Ping, Chen Hai-Ting, Lai Jing-Hui, Guo Xin-Xin, Su Hui-Zhen, Dong En-Lin, Zhang Qi-Jie, Wang Ning, Chen Wan-J |
Renal phosphate handling and inherited disorders of phosphate reabsorption: an update. Pediatric nephrology (Berlin, Germany) 2017 12 34 (4): 549-559. Wagner Carsten A, Rubio-Aliaga Isabel, Hernando Na |
Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing SLC20A2 and THAP1. BMJ case reports 2019 5 12 (5): . Mu Weiyi, Tochen Laura, Bertsch Caroline, Singer Harvey S, Barañano Kristin |
Identification of SLC20A2 deletions in patients with primary familial brain calcification. Clinical genetics 2019 3 96 (1): 53-60. Guo Xin-Xin, Su Hui-Zhen, Zou Xiao-Huan, Lai Lu-Lu, Lu Ying-Qian, Wang Chong, Li Yun-Lu, Hong Jing-Mei, Zhao Miao, Lin Kun-Xin, Lin Jie, Zeng Yi-Heng, Yao Xiang-Ping, Wang Ning, Chen Wan-J |
Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification. Human mutation 2019 1 40 (4): 392-403. Guo Xin-Xin, Zou Xiao-Huan, Wang Chong, Yao Xiang-Ping, Su Hui-Zhen, Lai Lu-Lu, Chen Hai-Ting, Lai Jing-Hui, Liu Yao-Bin, Chen Dong-Ping, Deng Yu-Chun, Lin Pan, Lin Hua-Song, Hong Bing-Cong, Yao Qing-Yang, Chen Xue-Jiao, Huang Dan-Qin, Fu Hong-Xia, Peng Ji-Dong, Niu Yan-Fang, Zhao Yu-Ying, Zhu Xiao-Qun, Lu Xiao-Pei, Lin Hai-Liang, Li Yong-Kun, Liu Chang-Yun, Huang Gen-Bin, Wang Ning, Chen Wan-J |
Whole?exome sequencing identifies a novel mutation of SLC20A2 (c.C1849T) as a possible cause of hereditary multiple exostoses in a Chinese family. Molecular medicine reports 2020 7 22 (3): 2469-2477. Li Yiqiang, Lin Xuemei, Zhu Mingwei, Li Jingchun, Yuan Zhe, Xu Hongw |
MYORG-related disease is associated with central pontine calcifications and atypical parkinsonism. Neurology. Genetics 2020 3 6 (2): e399. Chelban Viorica, Carecchio Miryam, Rea Gillian, Bowirrat Abdalla, Kirmani Salman, Magistrelli Luca, Efthymiou Stephanie, Schottlaender Lucia, Vandrovcova Jana, Salpietro Vincenzo, Salsano Ettore, Pareyson Davide, Chiapparini Luisa, Jan Farida, Ibrahim Shahnaz, Khan Fatima, Qarnain Zul, Groppa Stanislav, Bajaj Nin, Balint Bettina, Bhatia Kailash P, Lees Andrew, Morrison Patrick J, Wood Nicholas W, Garavaglia Barbara, Houlden Hen |
MYORG Mutation Heterozygosity Is Associated With Brain Calcification. Movement disorders : official journal of the Movement Disorder Society 2020 1 35 (4): 679-686. Chen You, Cen Zhidong, Chen Xinhui, Wang Haotian, Chen Si, Yang Dehao, Fu Feng, Wang Lebo, Liu Peng, Wu Hongwei, Zheng Xiaosheng, Xie Fei, Ouyang Zhiyuan, Zhang Yun, Zhou Yongji, Huang Xuerong, Wang Feng, Huang Guangsu, An Hongwei, Liang Yubing, Hong Weijun, Wang Anli, Huang Shuangling, Chen Wenhai, Yin Lili, Yang Yan, Huang Huayun, Zeng Ruxin, Zhao Na, Jiang Biao, Zhang Baorong, Luo Wei, |
Comment on: Bi-allelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2. European journal of human genetics : EJHG 2021 Sep . McNeill Alisda |
Genomic Diagnoses for Ectopic Intracerebral Calcifications. Neurology. Genetics 2023 8 9 (5): e200083. Changrui Xiao, Thomas Cassini, Daniel Benavides, Anusha Ebrahim, David Adams, Camilo To |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 16, 2024
- Content source: