de Vries BB - Search Results

1

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.

van Bon BW, Koolen DA, Brueton L, McMullan D, Lichtenbelt KD, Adès LC, Peters G, Gibson K, Moloney S, Novara F, Pramparo T, Dalla Bernardina B, Zoccante L, Balottin U, Piazza F, Pecile V, Gasparini P, Guerci V, Kets M, Pfundt R, de Brouwer AP, Veltman JA, de Leeuw N, Wilson M, Antony J, Reitano S, Luciano D, Fichera M, Romano C, Brunner HG, Zuffardi O, de Vries BB. van Bon BW, et al. Among authors: de brouwer ap, de leeuw n, de vries bb. Eur J Hum Genet. 2010 Feb;18(2):163-70. doi: 10.1038/ejhg.2009.152. Epub 2009 Oct 7. Eur J Hum Genet. 2010. PMID: 19809484 Free PMC article.

2

Mental status and fragile X expression in relation to FMR-1 gene mutation.

de Vries BB, Wiegers AM, de Graaff E, Verkerk AJ, Van Hemel JO, Halley DJ, Fryns JP, Curfs LM, Niermeijer MF, Oostra BA. de Vries BB, et al. Among authors: de graaff e. Eur J Hum Genet. 1993;1(1):72-9. doi: 10.1159/000472389. Eur J Hum Genet. 1993. PMID: 8069653

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

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.

6

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.

7

Screening for the fragile X syndrome among the mentally retarded: a clinical study. The Collaborative Fragile X Study Group.

de Vries BB, Mohkamsing S, van den Ouweland AM, Mol E, Gelsema K, van Rijn M, Tibben A, Halley DJ, Duivenvoorden HJ, Oostra BA, Niermeijer MF. de Vries BB, et al. J Med Genet. 1999 Jun;36(6):467-70. J Med Genet. 1999. PMID: 10874635 Free PMC article.

8

A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome.

de Vries BB, Bitner-Glindzicz M, Knight SJ, Tyson J, MacDermont KD, Flint J, Malcolm S, Winter RM. de Vries BB, et al. Clin Genet. 2000 Dec;58(6):483-7. doi: 10.1034/j.1399-0004.2000.580610.x. Clin Genet. 2000. PMID: 11149619

9

De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia.

Kleefstra T, Yntema HG, Oudakker AR, Romein T, Sistermans E, Nillessen W, van Bokhoven H, de Vries BB, Hamel BC. Kleefstra T, et al. Among authors: de vries bb. Clin Genet. 2002 May;61(5):359-62. doi: 10.1034/j.1399-0004.2002.610507.x. Clin Genet. 2002. PMID: 12081720

10

Low frequency of MECP2 mutations in mentally retarded males.

Yntema HG, Kleefstra T, Oudakker AR, Romein T, de Vries BB, Nillesen W, Sistermans EA, Brunner HG, Hamel BC, van Bokhoven H. Yntema HG, et al. Among authors: de vries bb. Eur J Hum Genet. 2002 Aug;10(8):487-90. doi: 10.1038/sj.ejhg.5200836. Eur J Hum Genet. 2002. PMID: 12111644

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