Bakker E - Search Results

1

Risk estimation for healthy women from breast cancer families: new insights and new strategies.

van Asperen CJ, Jonker MA, Jacobi CE, van Diemen-Homan JE, Bakker E, Breuning MH, van Houwelingen JC, de Bock GH. van Asperen CJ, et al. Among authors: bakker e. Cancer Epidemiol Biomarkers Prev. 2004 Jan;13(1):87-93. doi: 10.1158/1055-9965.epi-03-0090. Cancer Epidemiol Biomarkers Prev. 2004. PMID: 14744738

2

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

3

Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy.

Helderman-van den Enden AT, de Jong R, den Dunnen JT, Houwing-Duistermaat JJ, Kneppers AL, Ginjaar HB, Breuning MH, Bakker E. Helderman-van den Enden AT, et al. Among authors: bakker e. Clin Genet. 2009 May;75(5):465-72. doi: 10.1111/j.1399-0004.2009.01173.x. Clin Genet. 2009. PMID: 19475718

4

Sex ratio of the mutation frequencies in haemophilia A: coagulation assays and RFLP analysis.

Bröcker-Vriends AH, Rosendaal FR, van Houwelingen JC, Bakker E, van Ommen GJ, van de Kamp JJ, Briët E. Bröcker-Vriends AH, et al. Among authors: bakker e. J Med Genet. 1991 Oct;28(10):672-80. doi: 10.1136/jmg.28.10.672. J Med Genet. 1991. PMID: 1682494 Free PMC article.

5

[From gene to disease; basic concepts].

Breuning MH, Bakker E. Breuning MH, et al. Among authors: bakker e. Ned Tijdschr Geneeskd. 2000 Sep 2;144(36):1725-8. Ned Tijdschr Geneeskd. 2000. PMID: 10992896 Review. Dutch.

6

Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations.

Vink GR, White SJ, Gabelic S, Hogendoorn PC, Breuning MH, Bakker E. Vink GR, et al. Among authors: bakker e. Eur J Hum Genet. 2005 Apr;13(4):470-4. doi: 10.1038/sj.ejhg.5201343. Eur J Hum Genet. 2005. PMID: 15586175

7

Unclassified variants in disease-causing genes: nonuniformity of genetic testing and counselling, a proposal for guidelines.

Vink GR, van Asperen CJ, Devilee P, Breuning MH, Bakker E. Vink GR, et al. Among authors: bakker e. Eur J Hum Genet. 2005 May;13(5):525-7. doi: 10.1038/sj.ejhg.5201379. Eur J Hum Genet. 2005. PMID: 15741995 No abstract available.

8

Two step procedure for early diagnosis of polycystic kidney disease with polymorphic DNA markers on both sides of the gene.

Breuning MH, Snijdewint FG, Dauwerse JG, Saris JJ, Bakker E, Pearson PL, vanOmmen GJ. Breuning MH, et al. Among authors: bakker e. J Med Genet. 1990 Oct;27(10):614-7. doi: 10.1136/jmg.27.10.614. J Med Genet. 1990. PMID: 1978861 Free PMC article.

9

Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group.

Oberstein SA, Ferrari MD, Bakker E, van Gestel J, Kneppers AL, Frants RR, Breuning MH, Haan J. Oberstein SA, et al. Among authors: bakker e. Neurology. 1999 Jun 10;52(9):1913-5. doi: 10.1212/wnl.52.9.1913. Neurology. 1999. PMID: 10371548

10

[From gene to disease; marenostrine and familial Mediterranean fever].

Breuning MH, Bakker E. Breuning MH, et al. Among authors: bakker e. Ned Tijdschr Geneeskd. 2000 Sep 2;144(36):1728-30. Ned Tijdschr Geneeskd. 2000. PMID: 10992897 Review. Dutch.

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