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Genetic spectrum of CAKUT and risk factors for kidney failure: a pediatric multicenter cohort study.
Liu JL, Wang XW, Liu CH, Gao DMX, Jiang XY, Mao JH, Zhu GH, Zhang AH, Wang M, Dang XQ, Zhuang JQ, Li YF, Bai HT, Zhang RF, Shen T, Bi YL, Sun YB, Wang X, Wu BB, Chen J, Rao J, Tang XS, Shen Q, Xu H; Chinese Children Genetic Kidney Disease Database (CCGKDD), “Internet Plus” Nephrology Alliance of the National Center for Children's Care Department of Nephrology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China. Liu JL, et al. Among authors: liu ch. Nephrol Dial Transplant. 2022 Dec 22;38(9):1981-91. doi: 10.1093/ndt/gfac338. Online ahead of print. Nephrol Dial Transplant. 2022. PMID: 36549658 Free PMC article.
COQ8B nephropathy: Early detection and optimal treatment.
Song X, Fang X, Tang X, Cao Q, Zhai Y, Chen J, Liu J, Zhang Z, Xiang T, Qian Y, Wu B, Wang H, Zhou W, Liu C, Shen Q, Xu H, Rao J. Song X, et al. Mol Genet Genomic Med. 2020 Aug;8(8):e1360. doi: 10.1002/mgg3.1360. Epub 2020 Jun 16. Mol Genet Genomic Med. 2020. PMID: 32543055 Free PMC article.
Early diagnosis of WT1 nephropathy and follow up in a Chinese multicenter cohort.
Sun S, Xu L, Bi Y, Wang J, Zhang Z, Tang X, Cao Q, Zhai Y, Chen J, Fang X, Liu J, Fang Y, Xiang T, Qian Y, Wu B, Wang H, Zhou W, Shen J, Dong K, Liu X, Zheng B, Zhang A, Wang X, Wu Y, Ma D, Shen Q, Rao J, Xu H. Sun S, et al. Eur J Med Genet. 2020 Nov;63(11):104047. doi: 10.1016/j.ejmg.2020.104047. Epub 2020 Sep 4. Eur J Med Genet. 2020. PMID: 32891756 Free article.
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy.
Tang X, Liu C, Liu X, Chen J, Fan X, Liu J, Ma D, Cao G, Chen Z, Xu D, Zhu Y, Jiang X, Cheng L, Wu Y, Hou L, Li Y, Shao X, Zheng S, Zhang A, Zheng B, Jian S, Rong Z, Su Q, Gao X, Rao J, Shen Q, Xu H; Chinese Children Genetic Kidney Disease Database (CCGKDD); “Internet Plus” Nephrology Alliance of the National Center for Children’s Care. Tang X, et al. J Med Genet. 2022 Feb;59(2):147-154. doi: 10.1136/jmedgenet-2020-107184. Epub 2020 Dec 15. J Med Genet. 2022. PMID: 33323469
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.
1,979 results