de Vries BB - Search Results

1

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.

van Bon BW, Koolen DA, Borgatti R, Magee A, Garcia-Minaur S, Rooms L, Reardon W, Zollino M, Bonaglia MC, De Gregori M, Novara F, Grasso R, Ciccone R, van Duyvenvoorde HA, Aalbers AM, Guerrini R, Fazzi E, Nillesen WM, McCullough S, Kant SG, Marcelis CL, Pfundt R, de Leeuw N, Smeets D, Sistermans EA, Wit JM, Hamel BC, Brunner HG, Kooy F, Zuffardi O, de Vries BB. van Bon BW, et al. Among authors: de gregori m, de leeuw n, de vries bb. J Med Genet. 2008 Jun;45(6):346-54. doi: 10.1136/jmg.2007.055830. Epub 2008 Jan 4. J Med Genet. 2008. PMID: 18178631

2

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

3

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

4

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.

5

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.

6

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.

7

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

8

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.

9

Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique.

Willemsen R, Smits A, Mohkamsing S, van Beerendonk H, de Haan A, de Vries B, van den Ouweland A, Sistermans E, Galjaard H, Oostra BA. Willemsen R, et al. Hum Genet. 1997 Mar;99(3):308-11. doi: 10.1007/s004390050363. Hum Genet. 1997. PMID: 9050914 Free article.

10

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: de vries bb. 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.

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