de Vries BB - Search Results

1

Submicroscopic 8pter deletion, mild mental retardation, and behavioral problems caused by a familial t(8;20)(p23;p13).

de Vries BB, Lees M, Knight SJ, Regan R, Corney D, Flint J, Barnicoat A, Winter RM. de Vries BB, et al. Am J Med Genet. 2001 Apr 1;99(4):314-9. doi: 10.1002/ajmg.1182. Am J Med Genet. 2001. PMID: 11251999

2

Intragenic probe used for diagnostics in fragile X families.

Verkerk AJ, deVries BB, Niermeijer MF, Fu YH, Nelson DL, Warren ST, Majoor-Krakauer DF, Halley DJ, Oostra BA. Verkerk AJ, et al. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):192-6. doi: 10.1002/ajmg.1320430132. Am J Med Genet. 1992. PMID: 1605192

3

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: de graaff e, de vries bb. Am J Med Genet. 1994 Jul 15;51(4):482-5. doi: 10.1002/ajmg.1320510437. Am J Med Genet. 1994. PMID: 7943024

4

Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11.

Wu YQ, Heutink P, de Vries BB, Sandkuijl LA, van den Ouweland AM, Niermeijer MF, Galjaard H, Reyniers E, Willems PJ, Halley DJ. Wu YQ, et al. Among authors: de vries bb. Hum Mol Genet. 1994 Jan;3(1):167-71. doi: 10.1093/hmg/3.1.167. Hum Mol Genet. 1994. PMID: 8162019

5

Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype.

de Vries BB, Fryns JP, Butler MG, Canziani F, Wesby-van Swaay E, van Hemel JO, Oostra BA, Halley DJ, Niermeijer MF. de Vries BB, et al. J Med Genet. 1993 Sep;30(9):761-6. doi: 10.1136/jmg.30.9.761. J Med Genet. 1993. PMID: 8411072 Free PMC article.

6

General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation.

de Vries BB, Robinson H, Stolte-Dijkstra I, Tjon Pian Gi CV, Dijkstra PF, van Doorn J, Halley DJ, Oostra BA, Turner G, Niermeijer MF. de Vries BB, et al. J Med Genet. 1995 Oct;32(10):764-9. doi: 10.1136/jmg.32.10.764. J Med Genet. 1995. PMID: 8558551 Free PMC article.

7

Inversion duplication of the short arm of chromosome 8: clinical data on seven patients and review of the literature.

de Die-Smulders CE, Engelen JJ, Schrander-Stumpel CT, Govaerts LC, de Vries B, Vles JS, Wagemans A, Schijns-Fleuren S, Gillessen-Kaesbach G, Fryns JP. de Die-Smulders CE, et al. Am J Med Genet. 1995 Nov 20;59(3):369-74. doi: 10.1002/ajmg.1320590318. Am J Med Genet. 1995. PMID: 8599364 Review.

8

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. Am J Hum Genet. 1996 May;58(5):1025-32. Am J Hum Genet. 1996. PMID: 8651263 Free PMC article.

9

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: de vries bb. 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

10

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. 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.

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