De Vries BB - Search Results

1

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.

Jongmans MC, Admiraal RJ, van der Donk KP, Vissers LE, Baas AF, Kapusta L, van Hagen JM, Donnai D, de Ravel TJ, Veltman JA, Geurts van Kessel A, De Vries BB, Brunner HG, Hoefsloot LH, van Ravenswaaij CM. Jongmans MC, et al. Among authors: de ravel tj, de vries bb. J Med Genet. 2006 Apr;43(4):306-14. doi: 10.1136/jmg.2005.036061. Epub 2005 Sep 9. J Med Genet. 2006. PMID: 16155193 Free PMC article.

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

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

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.

8

Renal oncocytoma with t(5;12;11), der(1)1;8) and add(19): "true" oncocytoma or chromophobe adenoma?

Dijkhuizen T, van den Berg E, Störkel S, de Vries B, van der Veen AY, Wilbrink M, Geurts van Kessel A, de Jong B. Dijkhuizen T, et al. Int J Cancer. 1997 Nov 14;73(4):521-4. doi: 10.1002/(sici)1097-0215(19971114)73:4<521::aid-ijc11>3.0.co;2-c. Int J Cancer. 1997. PMID: 9389566

9

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.

10

The fragile X syndrome.

de Vries BB, Halley DJ, Oostra BA, Niermeijer MF. de Vries BB, et al. J Med Genet. 1998 Jul;35(7):579-89. doi: 10.1136/jmg.35.7.579. J Med Genet. 1998. PMID: 9678703 Free PMC article. Review.

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