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Guidelines for Genetic Testing and Management of Alport Syndrome.
Savige J, Lipska-Zietkiewicz BS, Watson E, Hertz JM, Deltas C, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Renieri A, Storey H, Flinter F. Savige J, et al. Clin J Am Soc Nephrol. 2022 Jan;17(1):143-154. doi: 10.2215/CJN.04230321. Epub 2021 Dec 20. Clin J Am Soc Nephrol. 2022. PMID: 34930753 Free PMC article.
The genetics of thin basement membrane nephropathy.
Rana K, Wang YY, Buzza M, Tonna S, Zhang KW, Lin T, Sin L, Padavarat S, Savige J. Rana K, et al. Among authors: savige j. Semin Nephrol. 2005 May;25(3):163-70. doi: 10.1016/j.semnephrol.2005.01.008. Semin Nephrol. 2005. PMID: 15880327 Review.
Gene symbol: COL4A5. Disease: Alport Syndrome.
Savige J, Tan R, Colville D, Wang Y, Parkin JD, Mathew N, Savige J. Savige J, et al. Hum Genet. 2008 Oct;124(3):301. Hum Genet. 2008. PMID: 18846626 No abstract available.
Gene symbol: COl4A5. Disease: Alport Syndrome.
Savige J, Tan R, Colville D, Wang Y, Rigby L, Oarkin JD, Mathew N, Savige J. Savige J, et al. Hum Genet. 2008 Oct;124(3):301-2. Hum Genet. 2008. PMID: 18846627 No abstract available.
233 results