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Page 1
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Weng PL, Majmundar AJ, Khan K, Lim TY, Shril S, Jin G, Musgrove J, Wang M, Ahram DF, Aggarwal VS, Bier LE, Heinzen EL, Onuchic-Whitford AC, Mann N, Buerger F, Schneider R, Deutsch K, Kitzler TM, Klämbt V, Kolb A, Mao Y, Moufawad El Achkar C, Mitrotti A, Martino J, Beck BB, Altmüller J, Benz MR, Yano S, Mikati MA, Gunduz T, Cope H, Shashi V; Undiagnosed Diseases Network; Trachtman H, Bodria M, Caridi G, Pisani I, Fiaccadori E, AbuMaziad AS, Martinez-Agosto JA, Yadin O, Zuckerman J, Kim A; UCLA Clinical Genomics Center; John-Kroegel U, Tyndall AV, Parboosingh JS, Innes AM, Bierzynska A, Koziell AB, Muorah M, Saleem MA, Hoefele J, Riedhammer KM, Gharavi AG, Jobanputra V, Pierce-Hoffman E, Seaby EG, O'Donnell-Luria A, Rehm HL, Mane S, D'Agati VD, Pollak MR, Ghiggeri GM, Lifton RP, Goldstein DB, Davis EE, Hildebrandt F, Sanna-Cherchi S. Weng PL, et al. Among authors: trachtman h. Am J Hum Genet. 2021 Feb 4;108(2):357-367. doi: 10.1016/j.ajhg.2021.01.008. Epub 2021 Jan 27. Am J Hum Genet. 2021. PMID: 33508234 Free PMC article.
Hypokalemia Associated With a Claudin 10 Mutation: A Case Report.
Meyers N, Nelson-Williams C, Malaga-Dieguez L, Kaufmann H, Loring E, Knight J, Lifton RP, Trachtman H. Meyers N, et al. Among authors: trachtman h. Am J Kidney Dis. 2019 Mar;73(3):425-428. doi: 10.1053/j.ajkd.2018.08.015. Epub 2018 Oct 25. Am J Kidney Dis. 2019. PMID: 30482581 Free PMC article.
Pulmonary Manifestations of Renal Disorders in Children.
Malaga-Dieguez L, Trachtman H, Giusti R. Malaga-Dieguez L, et al. Among authors: trachtman h. Pediatr Clin North Am. 2021 Feb;68(1):209-222. doi: 10.1016/j.pcl.2020.09.008. Pediatr Clin North Am. 2021. PMID: 33228933 Review.
Clinical Features and Histology of Apolipoprotein L1-Associated Nephropathy in the FSGS Clinical Trial.
Kopp JB, Winkler CA, Zhao X, Radeva MK, Gassman JJ, D'Agati VD, Nast CC, Wei C, Reiser J, Guay-Woodford LM, Pollak MR, Hildebrandt F, Moxey-Mims M, Gipson DS, Trachtman H, Friedman AL, Kaskel FJ; FSGS-CT Study Consortium. Kopp JB, et al. Among authors: trachtman h. J Am Soc Nephrol. 2015 Jun;26(6):1443-8. doi: 10.1681/ASN.2013111242. Epub 2015 Jan 8. J Am Soc Nephrol. 2015. PMID: 25573908 Free PMC article. Clinical Trial.
Clinical trial of focal segmental glomerulosclerosis in children and young adults.
Gipson DS, Trachtman H, Kaskel FJ, Greene TH, Radeva MK, Gassman JJ, Moxey-Mims MM, Hogg RJ, Watkins SL, Fine RN, Hogan SL, Middleton JP, Vehaskari VM, Flynn PA, Powell LM, Vento SM, McMahan JL, Siegel N, D'Agati VD, Friedman AL. Gipson DS, et al. Among authors: trachtman h. Kidney Int. 2011 Oct;80(8):868-78. doi: 10.1038/ki.2011.195. Epub 2011 Jul 6. Kidney Int. 2011. PMID: 21734640 Free PMC article. Clinical Trial.
392 results