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Heterozygous variants in USP25 cause genetic generalized epilepsy.
Fan CX, Liu XR, Mei DQ, Li BM, Li WB, Xie HC, Wang J, Shen NX, Ye ZL, You QL, Li LY, Qu XC, Chen LZ, Liang JJ, Zhang MR, He N, Li J, Gao JY, Deng WY, Liu WZ, Wang WT, Liao WP, Chen Q, Shi YW. Fan CX, et al. Among authors: chen lz. Brain. 2024 Oct 3;147(10):3442-3457. doi: 10.1093/brain/awae191. Brain. 2024. PMID: 38875478
Reply: UNC13B and focal epilepsy.
Qiao JD, Li X, Li J, Guo QH, Tang XQ, Chen LZ, Su T, Yi YH, Wang J, Liao WP. Qiao JD, et al. Among authors: chen lz. Brain. 2022 Apr 29;145(3):e13-e16. doi: 10.1093/brain/awab486. Brain. 2022. PMID: 35380625 No abstract available.
Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system.
Rao J, Liu X, Mao J, Tang X, Shen Q, Li G, Sun L, Bi Y, Wang X, Qian Y, Wu B, Wang H, Zhou W, Ma D, Zheng B, Shen Y, Chen Z, Luan J, Wang X, Wang M, Dang X, Wang Y, Wu Y, Hou L, Sun S, Li Q, Liu X, Bai H, Yang Y, Shao X, Li Y, Zheng S, Han M, Liu C, Cao G, Zhao L, Qiu S, Dong Y, Zhu Y, Wang F, Zhang D, Li Y, Zhao L, Yang C, Luo X, Chen L, Jiang X, Zhang A, Xu H; for “Internet Plus” Nephrology Alliance of National Center for Children's Care. Rao J, et al. Clin Genet. 2019 Nov;96(5):402-410. doi: 10.1111/cge.13606. Epub 2019 Jul 25. Clin Genet. 2019. PMID: 31328266
Integrating Population Variants and Protein Structural Analysis to Improve Clinical Genetic Diagnosis and Treatment in Nephrogenic Diabetes Insipidus.
Liao P, Xiang T, Li H, Fang Y, Fang X, Zhang Z, Cao Q, Zhai Y, Chen J, Xu L, Liu J, Tang X, Liu X, Wang X, Luan J, Shen Q, Chen L, Jiang X, Ma D, Xu H, Rao J. Liao P, et al. Front Pediatr. 2021 Apr 29;9:566524. doi: 10.3389/fped.2021.566524. eCollection 2021. Front Pediatr. 2021. PMID: 33996673 Free PMC article.
Genetic Variations and Clinical Features of NPHS1-Related Nephrotic Syndrome in Chinese Children: A Multicenter, Retrospective Study.
Rong L, Chen L, Rao J, Shen Q, Li G, Liu J, Mao J, Feng C, Wang X, Wang S, Kuang X, Huang W, Ma Q, Liu X, Ling C, Fu R, Gao X, Ding G, Yang H, Han M, Huang Z, Li Q, Zhang Q, Lin Y, Jiang X, Xu H. Rong L, et al. Front Med (Lausanne). 2021 Nov 11;8:771227. doi: 10.3389/fmed.2021.771227. eCollection 2021. Front Med (Lausanne). 2021. PMID: 34859019 Free PMC article.
Risk factors for renal outcomes in children with antineutrophil cytoplasmic antibody-associated vasculitis: a nationwide retrospective study in China.
Tan LW, Wan JL, Zhu CH, Xu H, Xia ZK, Chen LZ, Wu XC, Wang F, Liu XR, Zhao CG, Li XZ, Mao JH, Wang XW, Huang WY, Li YH, Zhang JJ, Feng SP, Yang J, Liu JJ, Gao CL, Rong LP, Shuai LJ, Xu K, Zhang HJ, Li Q, Zhang AH, Wang M. Tan LW, et al. Among authors: chen lz. World J Pediatr. 2024 May;20(5):506-516. doi: 10.1007/s12519-023-00753-3. Epub 2023 Oct 19. World J Pediatr. 2024. PMID: 37853276 Free PMC article.
Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort.
Yang X, Li Y, Fang Y, Shi H, Xiang T, Liu J, Liu J, Tang X, Fang X, Chen J, Zhai Y, Shen Q, Bi Y, Qian Y, Wu B, Wang H, Zhou W, Ma D, Bai H, Mao J, Chen L, Wang X, Gao X, Zhang R, Zhuang J, Zhang A, Jiang X, Xu H, Rao J. Yang X, et al. BMC Med Genomics. 2021 Oct 25;14(1):250. doi: 10.1186/s12920-021-01102-x. BMC Med Genomics. 2021. PMID: 34696790 Free PMC article.
461 results