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Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome.
Winter J, Lehmann T, Suckow V, Kijas Z, Kulozik A, Kalscheuer V, Hamel B, Devriendt K, Opitz J, Lenzner S, Ropers HH, Schweiger S. Winter J, et al. Hum Genet. 2003 Mar;112(3):249-54. doi: 10.1007/s00439-002-0901-5. Epub 2003 Jan 24. Hum Genet. 2003. PMID: 12545276
Deregulated Splicing Is a Major Mechanism of RNA-Induced Toxicity in Huntington's Disease.
Schilling J, Broemer M, Atanassov I, Duernberger Y, Vorberg I, Dieterich C, Dagane A, Dittmar G, Wanker E, van Roon-Mom W, Winter J, Krauß S. Schilling J, et al. Among authors: winter j. J Mol Biol. 2019 Apr 19;431(9):1869-1877. doi: 10.1016/j.jmb.2019.01.034. Epub 2019 Jan 31. J Mol Biol. 2019. PMID: 30711541 Free article. Review.
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.
So J, Suckow V, Kijas Z, Kalscheuer V, Moser B, Winter J, Baars M, Firth H, Lunt P, Hamel B, Meinecke P, Moraine C, Odent S, Schinzel A, van der Smagt JJ, Devriendt K, Albrecht B, Gillessen-Kaesbach G, van der Burgt I, Petrij F, Faivre L, McGaughran J, McKenzie F, Opitz JM, Cox T, Schweiger S. So J, et al. Among authors: winter j. Am J Med Genet A. 2005 Jan 1;132A(1):1-7. doi: 10.1002/ajmg.a.30407. Am J Med Genet A. 2005. PMID: 15558842
2,600 results