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Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.
Heath KE, Campos-Barros A, Toren A, Rozenfeld-Granot G, Carlsson LE, Savige J, Denison JC, Gregory MC, White JG, Barker DF, Greinacher A, Epstein CJ, Glucksman MJ, Martignetti JA. Heath KE, et al. Among authors: savige j. Am J Hum Genet. 2001 Nov;69(5):1033-45. doi: 10.1086/324267. Epub 2001 Oct 4. Am J Hum Genet. 2001. PMID: 11590545 Free PMC article.
Ocular manifestations of autosomal recessive Alport syndrome.
Colville D, Savige J, Morfis M, Ellis J, Kerr P, Agar J, Fasset R. Colville D, et al. Among authors: savige j. Ophthalmic Genet. 1997 Sep;18(3):119-28. doi: 10.3109/13816819709057125. Ophthalmic Genet. 1997. PMID: 9361309
Alport syndrome. A review of the ocular manifestations.
Colville DJ, Savige J. Colville DJ, et al. Among authors: savige j. Ophthalmic Genet. 1997 Dec;18(4):161-73. doi: 10.3109/13816819709041431. Ophthalmic Genet. 1997. PMID: 9457747 Review.
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome.
Gross O, Kashtan CE, Rheault MN, Flinter F, Savige J, Miner JH, Torra R, Ars E, Deltas C, Savva I, Perin L, Renieri A, Ariani F, Mari F, Baigent C, Judge P, Knebelman B, Heidet L, Lagas S, Blatt D, Ding J, Zhang Y, Gale DP, Prunotto M, Xue Y, Schachter AD, Morton LCG, Blem J, Huang M, Liu S, Vallee S, Renault D, Schifter J, Skelding J, Gear S, Friede T, Turner AN, Lennon R. Gross O, et al. Among authors: savige j. Nephrol Dial Transplant. 2017 Jun 1;32(6):916-924. doi: 10.1093/ndt/gfw095. Nephrol Dial Transplant. 2017. PMID: 27190345 Free PMC article.
Ocular abnormalities in thin basement membrane disease.
Colville D, Savige J, Branley P, Wilson D. Colville D, et al. Among authors: savige j. Br J Ophthalmol. 1997 May;81(5):373-7. doi: 10.1136/bjo.81.5.373. Br J Ophthalmol. 1997. PMID: 9227202 Free PMC article.
235 results