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A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58.
Lezirovitz K, Vieira-Silva GA, Batissoco AC, Levy D, Kitajima JP, Trouillet A, Ouyang E, Zebarjadi N, Sampaio-Silva J, Pedroso-Campos V, Nascimento LR, Sonoda CY, Borges VM, Vasconcelos LG, Beck RMO, Grasel SS, Jagger DJ, Grillet N, Bento RF, Mingroni-Netto RC, Oiticica J. Lezirovitz K, et al. Among authors: jagger dj. Hum Mol Genet. 2020 Jun 3;29(9):1520-1536. doi: 10.1093/hmg/ddaa075. Hum Mol Genet. 2020. PMID: 32337552 Free PMC article.
A novel hearing-loss-related mutation occurring in the GJB2 basal promoter.
Matos TD, Caria H, Simões-Teixeira H, Aasen T, Nickel R, Jagger DJ, O'Neill A, Kelsell DP, Fialho G. Matos TD, et al. Among authors: jagger dj. J Med Genet. 2007 Nov;44(11):721-5. doi: 10.1136/jmg.2007.050682. Epub 2007 Jul 27. J Med Genet. 2007. PMID: 17660464 Free PMC article.
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates.
Ross AJ, May-Simera H, Eichers ER, Kai M, Hill J, Jagger DJ, Leitch CC, Chapple JP, Munro PM, Fisher S, Tan PL, Phillips HM, Leroux MR, Henderson DJ, Murdoch JN, Copp AJ, Eliot MM, Lupski JR, Kemp DT, Dollfus H, Tada M, Katsanis N, Forge A, Beales PL. Ross AJ, et al. Among authors: jagger dj. Nat Genet. 2005 Oct;37(10):1135-40. doi: 10.1038/ng1644. Epub 2005 Sep 18. Nat Genet. 2005. PMID: 16170314
52 results