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Page 1
A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.
van der Hout AH, van den Ouweland AM, van der Luijt RB, Gille HJ, Bodmer D, Brüggenwirth H, Mulder IM, van der Vlies P, Elfferich P, Huisman MT, ten Berge AM, Kromosoeto J, Jansen RP, van Zon PH, Vriesman T, Arts N, Lange MB, Oosterwijk JC, Meijers-Heijboer H, Ausems MG, Hoogerbrugge N, Verhoef S, Halley DJ, Vos YJ, Hogervorst F, Ligtenberg M, Hofstra RM. van der Hout AH, et al. Among authors: van zon ph, van den ouweland am, van der vlies p, van der luijt rb. Hum Mutat. 2006 Jul;27(7):654-66. doi: 10.1002/humu.20340. Hum Mutat. 2006. PMID: 16683254
Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis.
van der Luijt RB, Khan PM, Vasen HF, Tops CM, van Leeuwen-Cornelisse IS, Wijnen JT, van der Klift HM, Plug RJ, Griffioen G, Fodde R. van der Luijt RB, et al. Among authors: van der klift hm, van leeuwen cornelisse is. Hum Mutat. 1997;9(1):7-16. doi: 10.1002/(SICI)1098-1004(1997)9:1<7::AID-HUMU2>3.0.CO;2-8. Hum Mutat. 1997. PMID: 8990002
Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification.
Hes FJ, van der Luijt RB, Janssen AL, Zewald RA, de Jong GJ, Lenders JW, Links TP, Luyten GP, Sijmons RH, Eussen HJ, Halley DJ, Lips CJ, Pearson PL, van den Ouweland AM, Majoor-Krakauer DF. Hes FJ, et al. Among authors: van den ouweland am, van der luijt rb. Clin Genet. 2007 Aug;72(2):122-9. doi: 10.1111/j.1399-0004.2007.00827.x. Clin Genet. 2007. PMID: 17661816
No evidence that GATA3 rs570613 SNP modifies breast cancer risk.
Johnatty SE, Couch FJ, Fredericksen Z, Tarrell R, Spurdle AB, Beesley J, Chen X; kConFab Investigators; AOCS Group; Swedish BRCA1 and BRCA2 Study Collaborators; Gschwantler-Kaulich D, Singer CF, Fuerhauser C, Fink-Retter A, Domchek SM, Nathanson KL, Pankratz VS, Lindor NM, Godwin AK, Caligo MA, Hopper J, Southey MC, Giles GG, Justenhoven C, Brauch H, Hamann U, Ko YD, Heikkinen T, Aaltonen K, Aittomäki K, Blomqvist C, Nevanlinna H, Hall P, Czene K, Liu J, Peock S, Cook M, Platte R, Gareth Evans D, Lalloo F, Eeles R, Pichert G, Eccles D, Davidson R, Cole T, Cook J, Douglas F, Chu C, Hodgson S, Paterson J, Hogervorst FB, Rookus MA, Seynaeve C, Wijnen J, Vreeswijk M, Ligtenberg M, van der Luijt RB, van Os TA, Gille HJ, Blok MJ; HEBON; Issacs C, Humphreys MK, McGuffog L, Healey S, Sinilnikova O, Antoniou AC, Easton DF, Chenevix-Trench G; Breast Cancer Association Consortium and Consortium of Investigators of Modifiers of BRCA1/2. Johnatty SE, et al. Among authors: van os ta, van der luijt rb. Breast Cancer Res Treat. 2009 Sep;117(2):371-9. doi: 10.1007/s10549-008-0257-1. Epub 2008 Dec 11. Breast Cancer Res Treat. 2009. PMID: 19082709 Free PMC article.
A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history.
Gómez García EB, Oosterwijk JC, Timmermans M, van Asperen CJ, Hogervorst FB, Hoogerbrugge N, Oldenburg R, Verhoef S, Dommering CJ, Ausems MG, van Os TA, van der Hout AH, Ligtenberg M, van den Ouweland A, van der Luijt RB, Wijnen JT, Gille JJ, Lindsey PJ, Devilee P, Blok MJ, Vreeswijk MP. Gómez García EB, et al. Among authors: van asperen cj, van der hout ah, van os ta, van den ouweland a, van der luijt rb. Breast Cancer Res. 2009;11(1):R8. doi: 10.1186/bcr2223. Epub 2009 Feb 6. Breast Cancer Res. 2009. PMID: 19200354 Free PMC article.
A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example.
Mohammadi L, Vreeswijk MP, Oldenburg R, van den Ouweland A, Oosterwijk JC, van der Hout AH, Hoogerbrugge N, Ligtenberg M, Ausems MG, van der Luijt RB, Dommering CJ, Gille JJ, Verhoef S, Hogervorst FB, van Os TA, Gómez García E, Blok MJ, Wijnen JT, Helmer Q, Devilee P, van Asperen CJ, van Houwelingen HC. Mohammadi L, et al. Among authors: van asperen cj, van der hout ah, van houwelingen hc, van os ta, van den ouweland a, van der luijt rb. BMC Cancer. 2009 Jun 29;9:211. doi: 10.1186/1471-2407-9-211. BMC Cancer. 2009. PMID: 19563646 Free PMC article.
132 results