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Suspected Autosomal Recessive Polycystic Kidney Disease but Cerebellar Vermis Hypoplasia, Oligophrenia Ataxia, Coloboma, and Hepatic Fibrosis (COACH) Syndrome in Retrospect, A Delayed Diagnosis Aided by Genotyping and Reverse Phenotyping: A Case Report and A Review of the Literature.
Nephron. 2024;148(4):264-272. doi: 10.1159/000527991. Epub 2023 Jan 6.
Nephron. 2024.
PMID: 36617405
Review.
Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.
Mansilla MA, Sompallae RR, Nishimura CJ, Kwitek AE, Kimble MJ, Freese ME, Campbell CA, Smith RJ, Thomas CP.
Mansilla MA, et al. Among authors: freese me.
Nephrol Dial Transplant. 2021 Jan 25;36(2):295-305. doi: 10.1093/ndt/gfz173.
Nephrol Dial Transplant. 2021.
PMID: 31738409
Free PMC article.
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Initial experience from a renal genetics clinic demonstrates a distinct role in patient management.
Thomas CP, Freese ME, Ounda A, Jetton JG, Holida M, Noureddine L, Smith RJ.
Thomas CP, et al. Among authors: freese me.
Genet Med. 2020 Jun;22(6):1025-1035. doi: 10.1038/s41436-020-0772-y. Epub 2020 Mar 17.
Genet Med. 2020.
PMID: 32203225
Free PMC article.
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Spontaneous remission of genetic, apparent primary, FSGS presenting with nephrotic syndrome challenges traditional notions of primary FSGS.
Oo SZMWH, Freese ME, Holanda DG, Thomas CP.
Oo SZMWH, et al. Among authors: freese me.
J Nephrol. 2021 Feb;34(1):255-258. doi: 10.1007/s40620-020-00837-7. Epub 2020 Aug 27.
J Nephrol. 2021.
PMID: 32852700
No abstract available.
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Correction: Initial experience from a renal genetics clinic demonstrates a distinct role in patient management.
Thomas CP, Freese ME, Ounda A, Jetton JG, Holida M, Noureddine L, Smith RJ.
Thomas CP, et al. Among authors: freese me.
Genet Med. 2021 Oct;23(10):2017-2019. doi: 10.1038/s41436-020-01000-0.
Genet Med. 2021.
PMID: 33024316
Free PMC article.
No abstract available.
Item in Clipboard
Sequential genetic testing of living-related donors for inherited renal disease to promote informed choice and enhance safety of living donation.
Thomas CP, Gupta S, Freese ME, Chouhan KK, Dantuma MI, Holanda DG, Katz DA, Darbro BW, Mansilla MA, Smith RJ.
Thomas CP, et al. Among authors: freese me.
Transpl Int. 2021 Dec;34(12):2696-2705. doi: 10.1111/tri.14133. Epub 2021 Nov 3.
Transpl Int. 2021.
PMID: 34632641
Free article.
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Genetic evaluation of living kidney donor candidates: A review and recommendations for best practices.
Thomas CP, Daloul R, Lentine KL, Gohh R, Anand PM, Rasouly HM, Sharfuddin AA, Schlondorff JS, Rodig NM, Freese ME, Garg N, Lee BK, Caliskan Y.
Thomas CP, et al. Among authors: freese me.
Am J Transplant. 2023 May;23(5):597-607. doi: 10.1016/j.ajt.2023.02.020. Epub 2023 Mar 1.
Am J Transplant. 2023.
PMID: 36868514
Free article.
Review.
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