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The genetics of the alternative pathway of complement in the pathogenesis of HELLP syndrome.
Crovetto F, Borsa N, Acaia B, Nishimura C, Frees K, Smith RJ, Peyvandi F, Palla R, Cugno M, Tedeschi S, Castorina P, Somigliana E, Ardissino G, Fedele L. Crovetto F, et al. Among authors: frees k. J Matern Fetal Neonatal Med. 2012 Nov;25(11):2322-5. doi: 10.3109/14767058.2012.694923. Epub 2012 Jun 7. J Matern Fetal Neonatal Med. 2012. PMID: 22594569
Causes of alternative pathway dysregulation in dense deposit disease.
Zhang Y, Meyer NC, Wang K, Nishimura C, Frees K, Jones M, Katz LM, Sethi S, Smith RJ. Zhang Y, et al. Among authors: frees k. Clin J Am Soc Nephrol. 2012 Feb;7(2):265-74. doi: 10.2215/CJN.07900811. Epub 2012 Jan 5. Clin J Am Soc Nephrol. 2012. PMID: 22223606 Free PMC article.
Allelic variants of complement genes associated with dense deposit disease.
Abrera-Abeleda MA, Nishimura C, Frees K, Jones M, Maga T, Katz LM, Zhang Y, Smith RJ. Abrera-Abeleda MA, et al. Among authors: frees k. J Am Soc Nephrol. 2011 Aug;22(8):1551-9. doi: 10.1681/ASN.2010080795. Epub 2011 Jul 22. J Am Soc Nephrol. 2011. PMID: 21784901 Free PMC article.
High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies.
Bu F, Borsa NG, Jones MB, Takanami E, Nishimura C, Hauer JJ, Azaiez H, Black-Ziegelbein EA, Meyer NC, Kolbe DL, Li Y, Frees K, Schnieders MJ, Thomas C, Nester C, Smith RJ. Bu F, et al. Among authors: frees k. J Am Soc Nephrol. 2016 Apr;27(4):1245-53. doi: 10.1681/ASN.2015040385. Epub 2015 Aug 17. J Am Soc Nephrol. 2016. PMID: 26283675 Free PMC article.
Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss.
Stiff HA, Sloan-Heggen CM, Ko A, Pfeifer WL, Kolbe DL, Nishimura CJ, Frees KL, Booth KT, Wang D, Weaver AE, Azaiez H, Kamholz J, Smith RJH, Drack AV. Stiff HA, et al. Among authors: frees kl. Ophthalmic Genet. 2020 Apr;41(2):151-158. doi: 10.1080/13816810.2020.1747088. Epub 2020 Apr 13. Ophthalmic Genet. 2020. PMID: 32281467 Free PMC article.
Exonic mutations and exon skipping: Lessons learned from DFNA5.
Booth KT, Azaiez H, Kahrizi K, Wang D, Zhang Y, Frees K, Nishimura C, Najmabadi H, Smith RJ. Booth KT, et al. Among authors: frees k. Hum Mutat. 2018 Mar;39(3):433-440. doi: 10.1002/humu.23384. Epub 2018 Jan 11. Hum Mutat. 2018. PMID: 29266521 Free PMC article.
De novo variants are a common cause of genetic hearing loss.
Klimara MJ, Nishimura C, Wang D, Kolbe DL, Schaefer AM, Walls WD, Frees KL, Smith RJH, Azaiez H. Klimara MJ, et al. Among authors: frees kl. Genet Med. 2022 Dec;24(12):2555-2567. doi: 10.1016/j.gim.2022.08.028. Epub 2022 Oct 4. Genet Med. 2022. PMID: 36194208 Free PMC article.
Copy number variants are a common cause of non-syndromic hearing loss.
Shearer AE, Kolbe DL, Azaiez H, Sloan CM, Frees KL, Weaver AE, Clark ET, Nishimura CJ, Black-Ziegelbein EA, Smith RJ. Shearer AE, et al. Genome Med. 2014 May 22;6(5):37. doi: 10.1186/gm554. eCollection 2014. Genome Med. 2014. PMID: 24963352 Free PMC article.
37 results