Bakker E - Search Results

1

First-trimester prenatal diagnosis in twin pregnancies.

Christiaens GC, Oosterwijk JC, Stigter RH, Deutz-Terlouw PP, Kneppers AL, Bakker E. Christiaens GC, et al. Among authors: bakker e. Prenat Diagn. 1994 Jan;14(1):51-5. doi: 10.1002/pd.1970140109. Prenat Diagn. 1994. PMID: 8183837

2

Point mutation screening for 16 exons of the dystrophin gene by multiplex single-strand conformation polymorphism analysis.

Kneppers AL, Deutz-Terlouw PP, den Dunnen JT, van Ommen GJ, Bakker E. Kneppers AL, et al. Among authors: bakker e. Hum Mutat. 1995;5(3):235-42. doi: 10.1002/humu.1380050308. Hum Mutat. 1995. PMID: 7599634

3

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.

4

Duchenne and Becker muscular dystrophy.

Kneppers AL, Ginjaar IB, Bakker E. Kneppers AL, et al. Among authors: bakker e. Methods Mol Med. 2004;92:311-41. doi: 10.1385/1-59259-432-8:311. Methods Mol Med. 2004. PMID: 14733319 No abstract available.

5

Inversions in the factor VIII gene: improvement of carrier detection and prenatal diagnosis in Dutch haemophilia A families.

Deutz-Terlouw PP, Losekoot M, Olmer R, Pieneman WC, de Vries-v d Weerd S, Briët E, Bakker E. Deutz-Terlouw PP, et al. Among authors: bakker e. J Med Genet. 1995 Apr;32(4):296-300. doi: 10.1136/jmg.32.4.296. J Med Genet. 1995. PMID: 7643361 Free PMC article.

6

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.

7

The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.

van Essen AJ, Kneppers AL, van der Hout AH, Scheffer H, Ginjaar IB, ten Kate LP, van Ommen GJ, Buys CH, Bakker E. van Essen AJ, et al. Among authors: bakker e. J Med Genet. 1997 Oct;34(10):805-12. doi: 10.1136/jmg.34.10.805. J Med Genet. 1997. PMID: 9350811 Free PMC article.

8

First trimester prenatal diagnosis of haemophilia A: two years' experience.

Bröcker-Vriends AH, Briët E, Kanhai HH, Bakker E, Dreesen JC, Leschot NJ, Van de Kamp JJ, Pearson PL. Bröcker-Vriends AH, et al. Among authors: bakker e. Prenat Diagn. 1988 Jul;8(6):411-21. doi: 10.1002/pd.1970080605. Prenat Diagn. 1988. PMID: 2905454

9

Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2.

Oosterwijk JC, van der Wielen MJ, van de Vosse E, Voorhoeve E, Bakker E. Oosterwijk JC, et al. Among authors: bakker e. J Med Genet. 1995 Sep;32(9):736-9. doi: 10.1136/jmg.32.9.736. J Med Genet. 1995. PMID: 8544196 Free PMC article.

10

Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family.

Ausems MG, Bakker E, Berger R, Duran M, van Diggelen OP, Keulemans JL, de Valk HW, Kneppers AL, Dorland L, Eskes PF, Beemer FA, Poll-The BT, Smeitink JA. Ausems MG, et al. Among authors: bakker e. Am J Med Genet. 1997 Jan 20;68(2):236-9. Am J Med Genet. 1997. PMID: 9028466 Free article.

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