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Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.
Ramond F, Dalgliesh C, Grimmel M, Wechsberg O, Vetro A, Guerrini R, FitzPatrick D, Poole RL, Lebrun M, Bayat A, Grasshoff U, Bertrand M, Witt D, Turnpenny PD, Faundes V, Santa María L, Mendoza Fuentes C, Mabe P, Hussain SA, Mullegama SV, Torti E, Oehl-Jaschkowitz B, Salmon LB, Orenstein N, Shahar NR, Hagari O, Bazak L, Hoffjan S, Prada CE, Haack T, Elliott DJ. Ramond F, et al. Among authors: grasshoff u. Genet Med. 2023 Apr;25(4):100003. doi: 10.1016/j.gim.2022.100003. Epub 2022 Dec 20. Genet Med. 2023. PMID: 36549593 Free article.
Clinical and genetic variability of oculodentodigital dysplasia.
Wiest T, Herrmann O, Stögbauer F, Grasshoff U, Enders H, Koch MJ, Grond-Ginsbach C, Schwaninger M. Wiest T, et al. Among authors: grasshoff u. Clin Genet. 2006 Jul;70(1):71-2. doi: 10.1111/j.1399-0004.2006.00631.x. Clin Genet. 2006. PMID: 16813608 No abstract available.
Mapping translocation breakpoints by next-generation sequencing.
Chen W, Kalscheuer V, Tzschach A, Menzel C, Ullmann R, Schulz MH, Erdogan F, Li N, Kijas Z, Arkesteijn G, Pajares IL, Goetz-Sothmann M, Heinrich U, Rost I, Dufke A, Grasshoff U, Glaeser B, Vingron M, Ropers HH. Chen W, et al. Among authors: grasshoff u. Genome Res. 2008 Jul;18(7):1143-9. doi: 10.1101/gr.076166.108. Epub 2008 Mar 7. Genome Res. 2008. PMID: 18326688 Free PMC article.
Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study.
McMullan DJ, Bonin M, Hehir-Kwa JY, de Vries BB, Dufke A, Rattenberry E, Steehouwer M, Moruz L, Pfundt R, de Leeuw N, Riess A, Altug-Teber O, Enders H, Singer S, Grasshoff U, Walter M, Walker JM, Lamb CV, Davison EV, Brueton L, Riess O, Veltman JA. McMullan DJ, et al. Among authors: grasshoff u. Hum Mutat. 2009 Jul;30(7):1082-92. doi: 10.1002/humu.21015. Hum Mutat. 2009. PMID: 19388127
Transgenic rat model of Huntington's disease.
von Hörsten S, Schmitt I, Nguyen HP, Holzmann C, Schmidt T, Walther T, Bader M, Pabst R, Kobbe P, Krotova J, Stiller D, Kask A, Vaarmann A, Rathke-Hartlieb S, Schulz JB, Grasshoff U, Bauer I, Vieira-Saecker AM, Paul M, Jones L, Lindenberg KS, Landwehrmeyer B, Bauer A, Li XJ, Riess O. von Hörsten S, et al. Among authors: grasshoff u. Hum Mol Genet. 2003 Mar 15;12(6):617-24. doi: 10.1093/hmg/ddg075. Hum Mol Genet. 2003. PMID: 12620967
A 15q24 microdeletion in transient myeloproliferative disease (TMD) and acute megakaryoblastic leukaemia (AMKL) implicates PML and SUMO3 in the leukaemogenesis of TMD/AMKL.
Haemmerling S, Behnisch W, Doerks T, Korbel JO, Bork P, Moog U, Hentze S, Grasshoff U, Bonin M, Rieß O, Janssen JW, Jauch A, Bartram CR, Reinhardt D, Koch KA, Bandapalli OR, Kulozik AE. Haemmerling S, et al. Among authors: grasshoff u. Br J Haematol. 2012 Apr;157(2):180-7. doi: 10.1111/j.1365-2141.2012.09028.x. Epub 2012 Feb 1. Br J Haematol. 2012. PMID: 22296450 Free article.
53 results