Bakker E - Search Results

1

Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome are caused by a deletion in the same region on chromosome 4p 16.3.

Kant SG, Van Haeringen A, Bakker E, Stec I, Donnai D, Mollevanger P, Beverstock GC, Lindeman-Kusse MC, Van Ommen GJ. Kant SG, et al. Among authors: bakker e. J Med Genet. 1997 Jul;34(7):569-72. doi: 10.1136/jmg.34.7.569. J Med Genet. 1997. PMID: 9222965 Free PMC article.

2

A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first.

Gijsbers AC, Lew JY, Bosch CA, Schuurs-Hoeijmakers JH, van Haeringen A, den Hollander NS, Kant SG, Bijlsma EK, Breuning MH, Bakker E, Ruivenkamp CA. Gijsbers AC, et al. Among authors: bakker e. Eur J Hum Genet. 2009 Nov;17(11):1394-402. doi: 10.1038/ejhg.2009.74. Epub 2009 May 13. Eur J Hum Genet. 2009. PMID: 19436329 Free PMC article.

3

Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.

Gijsbers AC, Bosch CA, Dauwerse JG, Giromus O, Hansson K, Hilhorst-Hofstee Y, Kriek M, van Haeringen A, Bijlsma EK, Bakker E, Breuning MH, Ruivenkamp CA. Gijsbers AC, et al. Among authors: bakker e. Eur J Med Genet. 2010 Sep-Oct;53(5):227-33. doi: 10.1016/j.ejmg.2010.06.003. Epub 2010 Jun 11. Eur J Med Genet. 2010. PMID: 20542150

4

Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation.

Gijsbers AC, Dauwerse JG, Bosch CA, Boon EM, van den Ende W, Kant SG, Hansson KM, Breuning MH, Bakker E, Ruivenkamp CA. Gijsbers AC, et al. Among authors: bakker e. Eur J Med Genet. 2011 Jul-Aug;54(4):e409-12. doi: 10.1016/j.ejmg.2011.05.002. Epub 2011 May 23. Eur J Med Genet. 2011. PMID: 21664500

5

Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion.

Knijnenburg J, van Haeringen A, Hansson KB, Lankester A, Smit MJ, Belfroid RD, Bakker E, Rosenberg C, Tanke HJ, Szuhai K. Knijnenburg J, et al. Among authors: bakker e. Eur J Hum Genet. 2007 May;15(5):548-55. doi: 10.1038/sj.ejhg.5201807. Epub 2007 Mar 7. Eur J Hum Genet. 2007. PMID: 17342151

6

Presymptomatic, prenatal, and exclusion testing for Huntington disease using seven closely linked DNA markers.

Skraastad MI, Verwest A, Bakker E, Vegter-van der Vlis M, van Leeuwen-Cornelisse I, Roos RA, Pearson PL, van Ommen GJ. Skraastad MI, et al. Among authors: bakker e. Am J Med Genet. 1991 May 1;39(2):217-22. doi: 10.1002/ajmg.1320390221. Am J Med Genet. 1991. PMID: 1829584

7

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.

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

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations.

Bakker E, Veenema H, Den Dunnen JT, van Broeckhoven C, Grootscholten PM, Bonten EJ, van Ommen GJ, Pearson PL. Bakker E, et al. J Med Genet. 1989 Sep;26(9):553-9. doi: 10.1136/jmg.26.9.553. J Med Genet. 1989. PMID: 2810338 Free PMC article.

10

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.

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