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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. 2021 Aug;29(8):1186-1197. doi: 10.1038/s41431-021-00858-1. Epub 2021 Apr 15. Eur J Hum Genet. 2021. PMID: 33854215 Free PMC article.
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.
Stem cell therapy for Alport syndrome: the hope beyond the hype.
Gross O, Borza DB, Anders HJ, Licht C, Weber M, Segerer S, Torra R, Gubler MC, Heidet L, Harvey S, Cosgrove D, Lees G, Kashtan C, Gregory M, Savige J, Ding J, Thorner P, Abrahamson DR, Antignac C, Tryggvason K, Hudson B, Miner JH. Gross O, et al. Among authors: savige j. Nephrol Dial Transplant. 2009 Mar;24(3):731-4. doi: 10.1093/ndt/gfn722. Epub 2008 Dec 25. Nephrol Dial Transplant. 2009. PMID: 19110486 Free PMC article. No abstract available.
Retinal basement membrane abnormalities and the retinopathy of Alport syndrome.
Savige J, Liu J, DeBuc DC, Handa JT, Hageman GS, Wang YY, Parkin JD, Vote B, Fassett R, Sarks S, Colville D. Savige J, et al. Invest Ophthalmol Vis Sci. 2010 Mar;51(3):1621-7. doi: 10.1167/iovs.08-3323. Epub 2009 Oct 22. Invest Ophthalmol Vis Sci. 2010. PMID: 19850830 Free PMC article.
233 results