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Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients.
Schroeder C, Faust U, Krauße L, Liebmann A, Abele M, Demidov G, Schütz L, Kelemen O, Pohle A, Gauß S, Sturm M, Roggia C, Streiter M, Buchert R, Armenau-Ebinger S, Nann D, Beschorner R, Handgretinger R, Ebinger M, Lang P, Holzer U, Skokowa J, Ossowski S, Haack TB, Mau-Holzmann UA, Dufke A, Riess O, Brecht IB. Schroeder C, et al. Among authors: dufke a. Eur J Hum Genet. 2023 Oct;31(10):1139-1146. doi: 10.1038/s41431-023-01423-8. Epub 2023 Jul 28. Eur J Hum Genet. 2023. PMID: 37507557 Free PMC article.
Three unusual but cytogenetically similar cases with up to five different cell lines involving structural and numerical abnormalities of chromosome 18.
Carreira IM, Mascarenhas A, Matoso E, Couceiro AB, Ramos L, Dufke A, Mazauric M, Stressig R, Kosyakova N, Melo JB, Liehr T. Carreira IM, et al. Among authors: dufke a. J Histochem Cytochem. 2007 Nov;55(11):1123-8. doi: 10.1369/jhc.7A7244.2007. Epub 2007 Jun 26. J Histochem Cytochem. 2007. PMID: 17595336 Free PMC article.
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: dufke a. 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.
Multiple sclerosis in association with Williams-Beuren syndrome.
Papageorgiou E, Wacker A, Nägele T, Bonin M, Dufke A. Papageorgiou E, et al. Among authors: dufke a. J Paediatr Child Health. 2010 Oct;46(10):612-4. doi: 10.1111/j.1440-1754.2010.01863.x. J Paediatr Child Health. 2010. PMID: 20958825 No abstract available.
Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: detailed molecular cytogenetic characterization and review of the literature.
Manvelyan M, Riegel M, Santos M, Fuster C, Pellestor F, Mazaurik ML, Schulze B, Polityko A, Tittelbach H, Reising-Ackermann G, Belitz B, Hehr U, Kelbova C, Volleth M, Gödde E, Anderson J, Küpferling P, Köhler S, Duba HC, Dufke A, Aktas D, Martin T, Schreyer I, Ewers E, Reich D, Mrasek K, Weise A, Liehr T. Manvelyan M, et al. Among authors: dufke a. Int J Mol Med. 2008 Jun;21(6):705-14. Int J Mol Med. 2008. PMID: 18506363 Free article.
78 results