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Page 1
Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.
van der Klift HM, Tops CM, Bik EC, Boogaard MW, Borgstein AM, Hansson KB, Ausems MG, Gomez Garcia E, Green A, Hes FJ, Izatt L, van Hest LP, Alonso AM, Vriends AH, Wagner A, van Zelst-Stams WA, Vasen HF, Morreau H, Devilee P, Wijnen JT. van der Klift HM, et al. Among authors: hansson kb. Hum Mutat. 2010 May;31(5):578-87. doi: 10.1002/humu.21229. Hum Mutat. 2010. PMID: 20186688
Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.
van den Boogaard ML, Lemmers RJLF, Balog J, Wohlgemuth M, Auranen M, Mitsuhashi S, van der Vliet PJ, Straasheijm KR, van den Akker RFP, Kriek M, Laurense-Bik MEY, Raz V, van Ostaijen-Ten Dam MM, Hansson KBM, van der Kooi EL, Kiuru-Enari S, Udd B, van Tol MJD, Nishino I, Tawil R, Tapscott SJ, van Engelen BGM, van der Maarel SM. van den Boogaard ML, et al. Among authors: hansson kbm. Am J Hum Genet. 2016 May 5;98(5):1020-1029. doi: 10.1016/j.ajhg.2016.03.013. Am J Hum Genet. 2016. PMID: 27153398 Free PMC article.
The clinical spectrum of complete FBN1 allele deletions.
Hilhorst-Hofstee Y, Hamel BC, Verheij JB, Rijlaarsdam ME, Mancini GM, Cobben JM, Giroth C, Ruivenkamp CA, Hansson KB, Timmermans J, Moll HA, Breuning MH, Pals G. Hilhorst-Hofstee Y, et al. Among authors: hansson kb. Eur J Hum Genet. 2011 Mar;19(3):247-52. doi: 10.1038/ejhg.2010.174. Epub 2010 Nov 10. Eur J Hum Genet. 2011. PMID: 21063442 Free PMC article.
Genomic imbalances in mental retardation.
Kriek M, White SJ, Bouma MC, Dauwerse HG, Hansson KB, Nijhuis JV, Bakker B, van Ommen GJ, den Dunnen JT, Breuning MH. Kriek M, et al. Among authors: hansson kb. J Med Genet. 2004 Apr;41(4):249-55. doi: 10.1136/jmg.2003.014308. J Med Genet. 2004. PMID: 15060096 Free PMC article.
Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD.
de Greef JC, Wohlgemuth M, Chan OA, Hansson KB, Smeets D, Frants RR, Weemaes CM, Padberg GW, van der Maarel SM. de Greef JC, et al. Among authors: hansson kb. Neurology. 2007 Sep 4;69(10):1018-26. doi: 10.1212/01.wnl.0000271391.44352.fe. Neurology. 2007. PMID: 17785671
54 results