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Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Jayasinghe K, Stark Z, Kerr PG, Gaff C, Martyn M, Whitlam J, Creighton B, Donaldson E, Hunter M, Jarmolowicz A, Johnstone L, Krzesinski E, Lunke S, Lynch E, Nicholls K, Patel C, Prawer Y, Ryan J, See EJ, Talbot A, Trainer A, Tytherleigh R, Valente G, Wallis M, Wardrop L, West KH, White SM, Wilkins E, Mallett AJ, Quinlan C. Jayasinghe K, et al. Among authors: johnstone l. Genet Med. 2021 Jan;23(1):183-191. doi: 10.1038/s41436-020-00963-4. Epub 2020 Sep 17. Genet Med. 2021. PMID: 32939031 Free PMC article.
Chyluria: When is proteinuria 'not proteinuria'?
Teo S, LePage A, Kitching AR, Johnstone L. Teo S, et al. Among authors: johnstone l. J Paediatr Child Health. 2017 Oct;53(10):1015-1017. doi: 10.1111/jpc.13655. Epub 2017 Aug 9. J Paediatr Child Health. 2017. PMID: 28791743 No abstract available.
Metabolite diagnosis of primary hyperoxaluria type 3.
Greed L, Willis F, Johnstone L, Teo S, Belostotsky R, Frishberg Y, Pitt J. Greed L, et al. Among authors: johnstone l. Pediatr Nephrol. 2018 Aug;33(8):1443-1446. doi: 10.1007/s00467-018-3967-6. Epub 2018 Apr 28. Pediatr Nephrol. 2018. PMID: 29705963
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, Bockenhauer D, El-Desoky S, Kari JA, Zenker M, Kemper MJ, Mueller D, Fathy HM, Soliman NA; SRNS Study Group; Hildebrandt F. Sadowski CE, et al. J Am Soc Nephrol. 2015 Jun;26(6):1279-89. doi: 10.1681/ASN.2014050489. Epub 2014 Oct 27. J Am Soc Nephrol. 2015. PMID: 25349199 Free PMC article.
158 results