Deelen WH - Search Results

1

Univerricht-Lundborg disease: underdiagnosed in the Netherlands.

de Haan GJ, Halley DJ, Doelman JC, Geesink HH, Augustijn PB, Jager-Jongkind AD, Majoie M, Bader AJ, Leliefeld-Ten Doeschate LA, Deelen WH, Bertram E, Lehesjoki AE, Lindhout D. de Haan GJ, et al. Among authors: deelen wh. Epilepsia. 2004 Sep;45(9):1061-3. doi: 10.1111/j.0013-9580.2004.43703.x. Epilepsia. 2004. PMID: 15329070 Free article.

2

[From gene to disease; progressive myoclonus epilepsy of Unverricht-Lundborg and mutations in the cystatin B gene].

de Haan GJ, Halley DJ, Deelen WH, Lindhout D. de Haan GJ, et al. Among authors: deelen wh. Ned Tijdschr Geneeskd. 2002 May 4;146(18):846-8. Ned Tijdschr Geneeskd. 2002. PMID: 12038222 Dutch.

3

Conservation of CGG region in FMR1 gene in mammals.

Deelen W, Bakker C, Halley DJ, Oostra BA. Deelen W, et al. Am J Med Genet. 1994 Jul 15;51(4):513-6. doi: 10.1002/ajmg.1320510445. Am J Med Genet. 1994. PMID: 7943032

4

DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene.

van den Ouweland AM, de Vries BB, Bakker PL, Deelen WH, de Graaff E, van Hemel JO, Oostra BA, Niermeijer MF, Halley DJ. van den Ouweland AM, et al. Among authors: deelen wh. Am J Med Genet. 1994 Jul 15;51(4):482-5. doi: 10.1002/ajmg.1320510437. Am J Med Genet. 1994. PMID: 7943024

5

The mutation delta F508 on Dutch cystic fibrosis chromosomes: frequency and relation to patients age at diagnosis.

Halley DJ, Veeze HJ, Sandkuyl LA, Wesby-van Swaay E, van Damme NH, Deelen WH, Witte JE, Niermeijer MF. Halley DJ, et al. Among authors: deelen wh. Hum Genet. 1990 Sep;85(4):407-8. doi: 10.1007/BF02428281. Hum Genet. 1990. PMID: 2210750

6

Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes.

van den Ouweland AM, Deelen WH, Kunst CB, Uzielli ML, Nelson DL, Warren ST, Oostra BA, Halley DJ. van den Ouweland AM, et al. Among authors: deelen wh. Hum Mol Genet. 1994 Oct;3(10):1823-7. doi: 10.1093/hmg/3.10.1823. Hum Mol Genet. 1994. PMID: 7849707

7

Strategy for reliable prenatal detection of normal male carriers of the fragile X syndrome.

Halley D, Van Den Ouweland A, Deelen W, Verma I, Oostra B. Halley D, et al. Am J Med Genet. 1994 Jul 15;51(4):471-3. doi: 10.1002/ajmg.1320510435. Am J Med Genet. 1994. PMID: 7943022

8

Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomy.

Van Opstal D, Van den Berg C, Deelen WH, Brandenburg H, Cohen-Overbeek TE, Halley DJ, Van den Ouweland AM, In 't Veld PA, Los FJ. Van Opstal D, et al. Among authors: deelen wh. Prenat Diagn. 1998 Jan;18(1):35-44. Prenat Diagn. 1998. PMID: 9483638

9

Complete FXN deletion in a patient with Friedreich's ataxia.

van den Ouweland AM, van Minkelen R, Bolman GM, Wouters CH, Becht-Noordermeer C, Deelen WH, Deelen-Manders JM, Ippel EP, Saris J, Halley DJ. van den Ouweland AM, et al. Among authors: deelen wh. Genet Test Mol Biomarkers. 2012 Sep;16(9):1015-8. doi: 10.1089/gtmb.2012.0012. Epub 2012 Jun 12. Genet Test Mol Biomarkers. 2012. PMID: 22691228

10

Submicroscopic Xpter deletion in a boy with growth and mental retardation caused by a familial t(X;14).

de Vries BB, Eussen BH, van Diggelen OP, van Der Heide A, Deelen WH, Govaerts LC, Lindhout D, Wouters CH, Van Hemel JO. de Vries BB, et al. Among authors: deelen wh. Am J Med Genet. 1999 Nov 19;87(2):189-94. doi: 10.1002/(sici)1096-8628(19991119)87:2<189::aid-ajmg12>3.3.co;2-h. Am J Med Genet. 1999. PMID: 10533035

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