van den Ouweland AM - Search Results

1

Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group.

de Vries BB, van den Ouweland AM, Mohkamsing S, Duivenvoorden HJ, Mol E, Gelsema K, van Rijn M, Halley DJ, Sandkuijl LA, Oostra BA, Tibben A, Niermeijer MF. de Vries BB, et al. Among authors: van rijn m, van den ouweland am. Am J Hum Genet. 1997 Sep;61(3):660-7. doi: 10.1086/515496. Am J Hum Genet. 1997. PMID: 9326332 Free PMC article.

2

Validation of linkage-based DNA-diagnosis of fragile X gene carriers with the CGG repeat probe.

van Oost BA, Smits AP, Dreesen JC, van den Ouweland AM, Oostra BA. van Oost BA, et al. Among authors: van den ouweland am. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):320-7. doi: 10.1002/ajmg.1320430149. Am J Med Genet. 1992. PMID: 1605205

3

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. Hum Mol Genet. 1994 Oct;3(10):1823-7. doi: 10.1093/hmg/3.10.1823. Hum Mol Genet. 1994. PMID: 7849707

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: van hemel jo. Am J Med Genet. 1994 Jul 15;51(4):482-5. doi: 10.1002/ajmg.1320510437. Am J Med Genet. 1994. PMID: 7943024

5

Mental status of females with an FMR1 gene full mutation.

de Vries BB, Wiegers AM, Smits AP, Mohkamsing S, Duivenvoorden HJ, Fryns JP, Curfs LM, Halley DJ, Oostra BA, van den Ouweland AM, Niermeijer MF. de Vries BB, et al. Among authors: van den ouweland am. Am J Hum Genet. 1996 May;58(5):1025-32. Am J Hum Genet. 1996. PMID: 8651263 Free PMC article.

6

The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cells.

de Graaff E, de Vries BB, Willemsen R, van Hemel JO, Mohkamsing S, Oostra BA, van den Ouweland AM. de Graaff E, et al. Among authors: van den ouweland am, van hemel jo. Am J Med Genet. 1996 Aug 9;64(2):302-8. doi: 10.1002/(SICI)1096-8628(19960809)64:2<302::AID-AJMG14>3.0.CO;2-J. Am J Med Genet. 1996. PMID: 8844070

7

Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family.

de Vries BB, Jansen CC, Duits AA, Verheij C, Willemsen R, van Hemel JO, van den Ouweland AM, Niermeijer MF, Oostra BA, Halley DJ. de Vries BB, et al. Among authors: van den ouweland am, van hemel jo. J Med Genet. 1996 Dec;33(12):1007-10. doi: 10.1136/jmg.33.12.1007. J Med Genet. 1996. PMID: 9004132 Free PMC article. Review.

8

DNA testing for fragile X syndrome: implications for parents and family.

van Rijn MA, de Vries BB, Tibben A, van den Ouweland AM, Halley DJ, Niermeijer MF. van Rijn MA, et al. Among authors: van den ouweland am. J Med Genet. 1997 Nov;34(11):907-11. doi: 10.1136/jmg.34.11.907. J Med Genet. 1997. PMID: 9391884 Free PMC article.

9

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: van den ouweland am. 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.

10

Screening with the FMR1 protein test among mentally retarded males.

de Vries BB, Mohkamsing S, van den Ouweland AM, Halley DJ, Niermeijer MF, Oostra BA, Willemsen R. de Vries BB, et al. Among authors: van den ouweland am. Hum Genet. 1998 Oct;103(4):520-2. doi: 10.1007/s004390050860. Hum Genet. 1998. PMID: 9856500

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