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Page 1
Guidelines for cytogenetic investigations in tumours.
Hastings RJ, Bown N, Tibiletti MG, Debiec-Rychter M, Vanni R, Espinet B, van Roy N, Roberts P, van den Berg-de-Ruiter E, Bernheim A, Schoumans J, Chatters S, Zemanova Z, Stevens-Kroef M, Simons A, Heim S, Salido M, Ylstra B, Betts DR; Tumour Best Practice meeting; Eurogentest. Hastings RJ, et al. Among authors: ylstra b. Eur J Hum Genet. 2016 Jan;24(1):6-13. doi: 10.1038/ejhg.2015.35. Epub 2015 Mar 25. Eur J Hum Genet. 2016. PMID: 25804401 Free PMC article. No abstract available.
Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3).
van Kuilenburg AB, Meijer J, Mul AN, Hennekam RC, Hoovers JM, de Die-Smulders CE, Weber P, Mori AC, Bierau J, Fowler B, Macke K, Sass JO, Meinsma R, Hennermann JB, Miny P, Zoetekouw L, Vijzelaar R, Nicolai J, Ylstra B, Rubio-Gozalbo ME. van Kuilenburg AB, et al. Among authors: ylstra b. Hum Genet. 2009 Jun;125(5-6):581-90. doi: 10.1007/s00439-009-0653-6. Epub 2009 Mar 19. Hum Genet. 2009. PMID: 19296131 Free article.
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, van Spaendonk RM, Shen Y, Wu BL, Yu T, Yu Y, Chiang C, Gusella JF, Lindgren AM, Morton CC, van Binsbergen E, Bulk S, van Rossem E, Vanakker O, Armstrong R, Park SM, Greenhalgh L, Maye U, Neill NJ, Abbott KM, Sell S, Ladda R, Farber DM, Bader PI, Cushing T, Drautz JM, Konczal L, Nash P, de Los Reyes E, Carter MT, Hopkins E, Marshall CR, Osborne LR, Gripp KW, Thrush DL, Hashimoto S, Gastier-Foster JM, Astbury C, Ylstra B, Meijers-Heijboer H, Posthuma D, Menten B, Mortier G, Scherer SW, Eichler EE, Girirajan S, Katsanis N, Groffen AJ, Sistermans EA. Beunders G, et al. Among authors: ylstra b. Am J Hum Genet. 2013 Feb 7;92(2):210-20. doi: 10.1016/j.ajhg.2012.12.011. Epub 2013 Jan 17. Am J Hum Genet. 2013. PMID: 23332918 Free PMC article.
Performance of amplicon-based next generation DNA sequencing for diagnostic gene mutation profiling in oncopathology.
Sie D, Snijders PJ, Meijer GA, Doeleman MW, van Moorsel MI, van Essen HF, Eijk PP, Grünberg K, van Grieken NC, Thunnissen E, Verheul HM, Smit EF, Ylstra B, Heideman DA. Sie D, et al. Among authors: ylstra b. Cell Oncol (Dordr). 2014 Oct;37(5):353-61. doi: 10.1007/s13402-014-0196-2. Epub 2014 Sep 11. Cell Oncol (Dordr). 2014. PMID: 25209392
Human and mouse oligonucleotide-based array CGH.
van den Ijssel P, Tijssen M, Chin SF, Eijk P, Carvalho B, Hopmans E, Holstege H, Bangarusamy DK, Jonkers J, Meijer GA, Caldas C, Ylstra B. van den Ijssel P, et al. Among authors: ylstra b. Nucleic Acids Res. 2005 Dec 16;33(22):e192. doi: 10.1093/nar/gni191. Nucleic Acids Res. 2005. PMID: 16361265 Free PMC article.
252 results