Bakker E - Search Results

1

Extending the p16-Leiden tumour spectrum by respiratory tract tumours.

Oldenburg RA, de Vos tot Nederveen Cappel WH, van Puijenbroek M, van den Ouweland A, Bakker E, Griffioen G, Devilee P, Cornelisse CJ, Meijers-Heijboer H, Vasen HF, Morreau H. Oldenburg RA, et al. Among authors: bakker e. J Med Genet. 2004 Mar;41(3):e31. doi: 10.1136/jmg.2003.012336. J Med Genet. 2004. PMID: 14985402 Free PMC article. No abstract available.

2

First experiences with genetic counselling based on predictive DNA diagnosis in hereditary glomus tumours (paragangliomas).

Oosterwijk JC, Jansen JC, van Schothorst EM, Oosterhof AW, Devilee P, Bakker E, Zoeteweij MW, van der Mey AG. Oosterwijk JC, et al. Among authors: bakker e. J Med Genet. 1996 May;33(5):379-83. doi: 10.1136/jmg.33.5.379. J Med Genet. 1996. PMID: 8733047 Free PMC article.

3

BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients.

Petrij-Bosch A, Peelen T, van Vliet M, van Eijk R, Olmer R, Drüsedau M, Hogervorst FB, Hageman S, Arts PJ, Ligtenberg MJ, Meijers-Heijboer H, Klijn JG, Vasen HF, Cornelisse CJ, van 't Veer LJ, Bakker E, van Ommen GJ, Devilee P. Petrij-Bosch A, et al. Among authors: bakker e. Nat Genet. 1997 Nov;17(3):341-5. doi: 10.1038/ng1197-341. Nat Genet. 1997. PMID: 9354803 Free article.

4

Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus.

Losekoot M, Hoogendoorn E, Olmer R, Jansen CC, Oosterwijk JC, van den Ouweland AM, Halley DJ, Warren ST, Willemsen R, Oostra BA, Bakker E. Losekoot M, et al. Among authors: bakker e. J Med Genet. 1997 Nov;34(11):924-6. doi: 10.1136/jmg.34.11.924. J Med Genet. 1997. PMID: 9391887 Free PMC article.

5

EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas.

Bovée JV, Cleton-Jansen AM, Wuyts W, Caethoven G, Taminiau AH, Bakker E, Van Hul W, Cornelisse CJ, Hogendoorn PC. Bovée JV, et al. Among authors: bakker e. Am J Hum Genet. 1999 Sep;65(3):689-98. doi: 10.1086/302532. Am J Hum Genet. 1999. PMID: 10441575 Free PMC article.

6

Somatic APC mosaicism: an underestimated cause of polyposis coli.

Hes FJ, Nielsen M, Bik EC, Konvalinka D, Wijnen JT, Bakker E, Vasen HF, Breuning MH, Tops CM. Hes FJ, et al. Among authors: bakker e. Gut. 2008 Jan;57(1):71-6. doi: 10.1136/gut.2006.117796. Epub 2007 Jun 29. Gut. 2008. PMID: 17604324

7

Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs.

Vreeswijk MP, Kraan JN, van der Klift HM, Vink GR, Cornelisse CJ, Wijnen JT, Bakker E, van Asperen CJ, Devilee P. Vreeswijk MP, et al. Among authors: bakker e. Hum Mutat. 2009 Jan;30(1):107-14. doi: 10.1002/humu.20811. Hum Mutat. 2009. PMID: 18693280

8

Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review.

Nielsen M, Bik E, Hes FJ, Breuning MH, Vasen HF, Bakker E, Tops CM, Weiss MM. Nielsen M, et al. Among authors: bakker e. Eur J Hum Genet. 2007 Oct;15(10):1034-42. doi: 10.1038/sj.ejhg.5201871. Epub 2007 Jun 13. Eur J Hum Genet. 2007. PMID: 17568392 Review.

9

Dynamic mutation in Dutch Huntington's disease patients: increased paternal repeat instability extending to within the normal size range.

De Rooij KE, De Koning Gans PA, Skraastad MI, Belfroid RD, Vegter-Van Der Vlis M, Roos RA, Bakker E, Van Ommen GJ, Den Dunnen JT, Losekoot M. De Rooij KE, et al. Among authors: bakker e. J Med Genet. 1993 Dec;30(12):996-1002. doi: 10.1136/jmg.30.12.996. J Med Genet. 1993. PMID: 8133511 Free PMC article.

10

Immunohistochemical studies show truncated dystrophins in the myotubes of three fetuses at risk for Duchenne muscular dystrophy.

Ginjaar IB, Bakker E, van Paassen MM, den Dunnen JT, Wessels A, Zubrzycka-Gaarn EE, Moorman AF, van Ommen GJ. Ginjaar IB, et al. Among authors: bakker e. J Med Genet. 1991 Aug;28(8):505-10. doi: 10.1136/jmg.28.8.505. J Med Genet. 1991. PMID: 1920366 Free PMC article.

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