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Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
Savige J, Storey H, Watson E, Hertz JM, Deltas C, Renieri A, 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, Lipska-Ziętkiewicz BS. Savige J, et al. Eur J Hum Genet. 2024 Jan;32(1):132. doi: 10.1038/s41431-023-01288-x. Eur J Hum Genet. 2024. PMID: 36721056 Free PMC article. No abstract available.
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.
Alport Syndrome in Women and Girls.
Savige J, Colville D, Rheault M, Gear S, Lennon R, Lagas S, Finlay M, Flinter F. Savige J, et al. Clin J Am Soc Nephrol. 2016 Sep 7;11(9):1713-1720. doi: 10.2215/CJN.00580116. Epub 2016 Jun 10. Clin J Am Soc Nephrol. 2016. PMID: 27287265 Free PMC article.
Expert consensus guidelines for the genetic diagnosis of Alport syndrome.
Savige J, Ariani F, Mari F, Bruttini M, Renieri A, Gross O, Deltas C, Flinter F, Ding J, Gale DP, Nagel M, Yau M, Shagam L, Torra R, Ars E, Hoefele J, Garosi G, Storey H. Savige J, et al. Pediatr Nephrol. 2019 Jul;34(7):1175-1189. doi: 10.1007/s00467-018-3985-4. Epub 2018 Jul 9. Pediatr Nephrol. 2019. PMID: 29987460 Free article. Review.
233 results