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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. Among authors: renieri a. 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.
De-novo COL4A5 gene mutations in Alport's syndrome.
Massella L, Rizzoni G, De Blasis R, Barsotti P, Faraggiana T, Renieri A, Seri M, Galli L, De Marchi M. Massella L, et al. Among authors: renieri a. Nephrol Dial Transplant. 1994;9(10):1408-11. Nephrol Dial Transplant. 1994. PMID: 7816253
Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome.
Renieri A, Galli L, Grillo A, Bruttini M, Neri T, Zanelli P, Rizzoni G, Massella L, Sessa A, Meroni M, Peratoner L, Riegler P, Scolari F, Mileti M, Giani M, Cossu M, Savi M, Ballabio A, De Marchi M. Renieri A, et al. Am J Med Genet. 1995 Nov 20;59(3):380-5. doi: 10.1002/ajmg.1320590320. Am J Med Genet. 1995. PMID: 8599366
Molecular diagnosis of Alport syndrome: the experience in Siena.
Renieri A, Bruttini M, Piccini M, Bruno M, Cecconi M, Conti M, Coppo R, La Manna A, Trivelli A, De Marchi M, Ballabio A. Renieri A, et al. Contrib Nephrol. 1997;122:132-3. doi: 10.1159/000059882. Contrib Nephrol. 1997. PMID: 9399055 No abstract available.
428 results